CleftGeneDB-Search

Gene: BMP4

Basic information

Tag	Content
Uniprot ID	P12644; Q9UM80;
Entrez ID	652
Genbank protein ID	AAH20546.1; BAA06410.1; AAC72278.1; AAA51835.1;
Genbank nucleotide ID	NM_001347916.1; NM_130851.3; NM_130850.4; NM_001202.5; NM_001347914.1;
Ensembl protein ID	ENSP00000454134; ENSP00000394165; ENSP00000245451; ENSP00000453485;
Ensembl nucleotide ID	ENSG00000125378
Gene name	Bone morphogenetic protein 4
Gene symbol	BMP4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	18771417; 19839778; 23227324; 22182590; 23237431; 19249007; 26424979; 22514733; 19914800;
Functional description	Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).
Sequence	MIPGNRMLMV VLLCQVLLGG ASHASLIPET GKKKVAEIQG HAGGRRSGQS HELLRDFEAT 60 LLQMFGLRRR PQPSKSAVIP DYMRDLYRLQ SGEEEEEQIH STGLEYPERP ASRANTVRSF 120 HHEEHLENIP GTSENSAFRF LFNLSSIPEN EVISSAELRL FREQVDQGPD WERGFHRINI 180 YEVMKPPAEV VPGHLITRLL DTRLVHHNVT RWETFDVSPA VLRWTREKQP NYGLAIEVTH 240 LHQTRTHQGQ HVRISRSLPQ GSGNWAQLRP LLVTFGHDGR GHALTRRRRA KRSPKHHSQR 300 ARKKNKNCRR HSLYVDFSDV GWNDWIVAPP GYQAFYCHGD CPFPLADHLN STNHAIVQTL 360 VNSVNSSIPK ACCVPTELSA ISMLYLDEYD KVVLKNYQEM VVEGCGCR 408

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BMP4	407216	Q2KJH1			Bos taurus	Prediction	More>>
1:1 ortholog	BMP4	490695	F1PDL1			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BMP4	100860789	A0A2Z4FRB3			Capra hircus	Prediction	More>>
1:1 ortholog	BMP4	100034048	F6QG82			Equus caballus	Prediction	More>>
1:1 ortholog	BMP4	652	P12644	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Bmp4	12159	P21275	CPO,CLO	E11.5, E12.5, E13.5, E14.5, E15.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	BMP4	100113425	A7LJT9			Sus scrofa	Prediction	More>>
1:1 ortholog	BMP4	100009569	G1T0L5			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bmp4	25296	Q6AYU9			Rattus norvegicus	Prediction	More>>
1:1 ortholog	bmp4		F1QAD6			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
BMP4	rs17563; c.538T>C	Polymerase chain reaction-restriction fragment length polymorphism	26424979
BMP4	rs17563 C allele	PCR-RFLP	23227324
BMP4	rs17563	Real-time polymerase chain reaction using the Taqman assay method	23237431
BMP4	rs10130587	Genotyping	22514733
BMP4	rs2738265	Genotyping	22514733
BMP4	rs2761887	Genotyping	22514733
BMP4	rs762642	Genotyping	22514733
BMP4	c.-5514G > A	PCR	22182590
BMP4	c.-5365C > T	PCR	22182590
BMP4	c.-5049C > T	PCR	22182590
BMP4	rs2855530	PCR	22182590
BMP4	rs17563	Genotyping	19914800
BMP4	rs762642	TDT	19839778
BMP4	rs2855532	TDT	19839778
BMP4	rs1957860	TDT	19839778
BMP4	c.538T>C	PCR; RFLP	18771417
BMP4	rs17563	GWAS	3221112
BMP4	rs762642T>G	Direct sequencing; PCR	29860186
BMP4	rs17563T>C	Direct sequencing; PCR	29860186
BMP4	rs10130587C>G	Direct sequencing; PCR	29860186
BMP4	rs35107139T>G	Direct sequencing; PCR	29860186
BMP4	c.455T>C; p.V152A	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs760019960	p.Ile2Phe	missense variant	-	NC_000014.9:g.53952219T>A	ExAC,gnomAD
rs774777993	p.Pro3Leu	missense variant	-	NC_000014.9:g.53952215G>A	ExAC,TOPMed,gnomAD
COSM4051324	p.Pro3His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952215G>T	NCI-TCGA Cosmic
rs771302149	p.Asn5Ser	missense variant	-	NC_000014.9:g.53952209T>C	ExAC,TOPMed,gnomAD
rs377379589	p.Arg6Gln	missense variant	-	NC_000014.9:g.53952206C>T	ESP,ExAC,TOPMed,gnomAD
rs780741859	p.Met7Ile	missense variant	-	NC_000014.9:g.53952202C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu8Met	missense variant	-	NC_000014.9:g.53952201G>T	NCI-TCGA
COSM416664	p.Met9Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952196C>A	NCI-TCGA Cosmic
rs746551997	p.Met9Thr	missense variant	-	NC_000014.9:g.53952197A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu13PhePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.53952184_53952185insA	NCI-TCGA
rs779603940	p.Cys14Tyr	missense variant	-	NC_000014.9:g.53952182C>T	ExAC,TOPMed,gnomAD
rs1276201527	p.Gln15His	missense variant	-	NC_000014.9:g.53952178T>G	TOPMed
rs1236268255	p.Gln15Glu	missense variant	-	NC_000014.9:g.53952180G>C	TOPMed
RCV000681618	p.Gly20Ser	missense variant	Tooth agenesis	NC_000014.9:g.53952165C>T	ClinVar
rs757138929	p.Ala21Glu	missense variant	-	NC_000014.9:g.53952161G>T	ExAC,TOPMed,gnomAD
rs757138929	p.Ala21Gly	missense variant	-	NC_000014.9:g.53952161G>C	ExAC,TOPMed,gnomAD
rs757138929	p.Ala21Val	missense variant	-	NC_000014.9:g.53952161G>A	ExAC,TOPMed,gnomAD
rs1377054583	p.Ala21Ser	missense variant	-	NC_000014.9:g.53952162C>A	TOPMed,gnomAD
rs1377054583	p.Ala21Thr	missense variant	-	NC_000014.9:g.53952162C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser22Arg	missense variant	-	NC_000014.9:g.53952157G>T	NCI-TCGA
COSM4051323	p.Ser22Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952158C>T	NCI-TCGA Cosmic
rs756334837	p.Ser25Arg	missense variant	-	NC_000014.9:g.53952148A>C	ExAC,gnomAD
rs1161431139	p.Ser25Asn	missense variant	-	NC_000014.9:g.53952149C>T	TOPMed,gnomAD
rs1486737404	p.Ile27Met	missense variant	-	NC_000014.9:g.53952142T>C	TOPMed,gnomAD
rs1180347739	p.Ile27Leu	missense variant	-	NC_000014.9:g.53952144T>G	gnomAD
rs767626507	p.Glu29Asp	missense variant	-	NC_000014.9:g.53952136C>G	ExAC,gnomAD
rs1258691934	p.Glu29Gln	missense variant	-	NC_000014.9:g.53952138C>G	gnomAD
rs759558138	p.Thr30Ala	missense variant	-	NC_000014.9:g.53952135T>C	ExAC,TOPMed,gnomAD
rs565895316	p.Thr30Met	missense variant	-	NC_000014.9:g.53952134G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs928764774	p.Gly31Glu	missense variant	-	NC_000014.9:g.53952131C>T	TOPMed
rs1311306185	p.Lys32Gln	missense variant	-	NC_000014.9:g.53952129T>G	gnomAD
rs774938531	p.Ala36Thr	missense variant	-	NC_000014.9:g.53952117C>T	ExAC
rs774938531	p.Ala36Ser	missense variant	-	NC_000014.9:g.53952117C>A	ExAC
rs150187403	p.Glu37Asp	missense variant	-	NC_000014.9:g.53952112C>G	ESP,ExAC,TOPMed,gnomAD
rs779024090	p.Glu37Gly	missense variant	-	NC_000014.9:g.53952113T>C	ExAC,gnomAD
rs777606324	p.Gly40Asp	missense variant	-	NC_000014.9:g.53952104C>T	ExAC,gnomAD
rs749083527	p.Gly40Ser	missense variant	-	NC_000014.9:g.53952105C>T	ExAC,TOPMed,gnomAD
rs756353828	p.His41Gln	missense variant	-	NC_000014.9:g.53952100G>C	ExAC,TOPMed,gnomAD
rs140920120	p.Ala42Ser	missense variant	-	NC_000014.9:g.53952099C>A	ESP,ExAC,TOPMed,gnomAD
rs140920120	p.Ala42Pro	missense variant	-	NC_000014.9:g.53952099C>G	ESP,ExAC,TOPMed,gnomAD
rs1476321924	p.Gly43Glu	missense variant	-	NC_000014.9:g.53952095C>T	gnomAD
rs1418818779	p.Arg46His	missense variant	-	NC_000014.9:g.53952086C>T	gnomAD
rs950786038	p.His51Gln	missense variant	-	NC_000014.9:g.53952070A>C	gnomAD
rs1264231997	p.Leu53Pro	missense variant	-	NC_000014.9:g.53952065A>G	gnomAD
rs1250647011	p.Leu53Phe	missense variant	-	NC_000014.9:g.53952066G>A	TOPMed
rs767590018	p.Arg55Trp	missense variant	-	NC_000014.9:g.53952060G>A	ExAC,gnomAD
rs755084602	p.Arg55Gln	missense variant	-	NC_000014.9:g.53952059C>T	ExAC,TOPMed,gnomAD
rs755084602	p.Arg55Leu	missense variant	-	NC_000014.9:g.53952059C>A	ExAC,TOPMed,gnomAD
rs547716844	p.Asp56Glu	missense variant	-	NC_000014.9:g.53952055G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763439953	p.Phe57Leu	missense variant	-	NC_000014.9:g.53952052G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu58Lys	missense variant	-	NC_000014.9:g.53952051C>T	NCI-TCGA
rs765639993	p.Glu58Gly	missense variant	-	NC_000014.9:g.53952050T>C	ExAC,gnomAD
rs773516930	p.Glu58Gln	missense variant	-	NC_000014.9:g.53952051C>G	ExAC,TOPMed,gnomAD
rs1297365466	p.Ala59Val	missense variant	-	NC_000014.9:g.53952047G>A	gnomAD
rs1382742836	p.Thr60Ser	missense variant	-	NC_000014.9:g.53952045T>A	gnomAD
rs1429432757	p.Gln63His	missense variant	-	NC_000014.9:g.53952034C>G	TOPMed
rs1048864355	p.Met64Val	missense variant	-	NC_000014.9:g.53952033T>C	TOPMed
NCI-TCGA novel	p.Phe65Cys	missense variant	-	NC_000014.9:g.53952029A>C	NCI-TCGA
RCV000722884	p.Gly66Glu	missense variant	-	NC_000014.9:g.53952026C>T	ClinVar
rs1389867082	p.Arg68His	missense variant	-	NC_000014.9:g.53952020C>T	TOPMed,gnomAD
COSM4051320	p.Arg68Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952021G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg69Cys	missense variant	-	NC_000014.9:g.53952018G>A	NCI-TCGA
rs1166450278	p.Arg69His	missense variant	-	NC_000014.9:g.53952017C>T	TOPMed
rs775230487	p.Arg70His	missense variant	-	NC_000014.9:g.53952014C>T	ExAC,gnomAD
rs1394669206	p.Arg70Cys	missense variant	-	NC_000014.9:g.53952015G>A	TOPMed
NCI-TCGA novel	p.Arg70Pro	missense variant	-	NC_000014.9:g.53952014C>G	NCI-TCGA
rs771808387	p.Pro71Gln	missense variant	-	NC_000014.9:g.53952011G>T	ExAC,gnomAD
rs771808387	p.Pro71Arg	missense variant	-	NC_000014.9:g.53952011G>C	ExAC,gnomAD
rs771047931	p.Gln72Arg	missense variant	-	NC_000014.9:g.53952008T>C	ExAC,TOPMed,gnomAD
RCV000355940	p.Gln72Arg	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53952008T>C	ClinVar
RCV000439978	p.Gln72Arg	missense variant	-	NC_000014.9:g.53952008T>C	ClinVar
RCV000301329	p.Gln72Arg	missense variant	Orofacial cleft	NC_000014.9:g.53952008T>C	ClinVar
RCV000393894	p.Gln72Arg	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53952008T>C	ClinVar
RCV000341050	p.Gln72Arg	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53952008T>C	ClinVar
rs1006741808	p.Ser74Gly	missense variant	-	NC_000014.9:g.53952003T>C	TOPMed,gnomAD
COSM956291	p.Ser74Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952002C>T	NCI-TCGA Cosmic
RCV000400269	p.Lys75Arg	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53951999T>C	ClinVar
rs777501416	p.Lys75Arg	missense variant	-	NC_000014.9:g.53951999T>C	ExAC,TOPMed,gnomAD
RCV000438985	p.Lys75Arg	missense variant	-	NC_000014.9:g.53951999T>C	ClinVar
RCV000286084	p.Lys75Arg	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53951999T>C	ClinVar
RCV000344659	p.Lys75Arg	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53951999T>C	ClinVar
RCV000289710	p.Lys75Arg	missense variant	Orofacial cleft	NC_000014.9:g.53951999T>C	ClinVar
rs1382538211	p.Ser76Thr	missense variant	-	NC_000014.9:g.53951996C>G	TOPMed
rs114957446	p.Ser76Arg	missense variant	-	NC_000014.9:g.53951995A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1469412041	p.Ala77Val	missense variant	-	NC_000014.9:g.53951993G>A	gnomAD
NCI-TCGA novel	p.Ala77Thr	missense variant	-	NC_000014.9:g.53951994C>T	NCI-TCGA
rs1011657927	p.Pro80Leu	missense variant	-	NC_000014.9:g.53951984G>A	-
rs1337000514	p.Tyr82His	missense variant	-	NC_000014.9:g.53951979A>G	TOPMed,gnomAD
rs377676306	p.Leu86Ile	missense variant	-	NC_000014.9:g.53951967G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr87His	missense variant	-	NC_000014.9:g.53951964A>G	NCI-TCGA
rs751697119	p.Tyr87Phe	missense variant	-	NC_000014.9:g.53951963T>A	ExAC,gnomAD
rs1301153846	p.Arg88Trp	missense variant	-	NC_000014.9:g.53951961G>A	TOPMed,gnomAD
rs200488679	p.Leu89Phe	missense variant	-	NC_000014.9:g.53951958G>A	1000Genomes
RCV000019277	p.Ser91Cys	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	ClinVar
rs121912767	p.Ser91Cys	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt,dbSNP
VAR_043531	p.Ser91Cys	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt
rs121912767	p.Ser91Cys	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53951951G>C	ESP,ExAC,TOPMed,gnomAD
rs121912765	p.Glu93Gly	missense variant	-	NC_000014.9:g.53951945T>C	ExAC,TOPMed,gnomAD
rs121912765	p.Glu93Gly	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt,dbSNP
VAR_043532	p.Glu93Gly	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt
RCV000019275	p.Glu93Gly	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951945T>C	ClinVar
NCI-TCGA novel	p.Glu94Gly	missense variant	-	NC_000014.9:g.53951942T>C	NCI-TCGA
rs1398877232	p.Glu95Lys	missense variant	-	NC_000014.9:g.53951940C>T	gnomAD
rs1168891139	p.Glu96Lys	missense variant	-	NC_000014.9:g.53951937C>T	gnomAD
rs1426072881	p.Glu97Asp	missense variant	-	NC_000014.9:g.53951932C>G	TOPMed
rs1376487986	p.Gln98Arg	missense variant	-	NC_000014.9:g.53951930T>C	gnomAD
rs1417794324	p.Ile99Phe	missense variant	-	NC_000014.9:g.53951928T>A	TOPMed
rs1417794324	p.Ile99Val	missense variant	-	NC_000014.9:g.53951928T>C	TOPMed
NCI-TCGA novel	p.Ser101Ile	missense variant	-	NC_000014.9:g.53951921C>A	NCI-TCGA
NCI-TCGA novel	p.Ser101Arg	missense variant	-	NC_000014.9:g.53951922T>G	NCI-TCGA
rs1196073983	p.Ser101Arg	missense variant	-	NC_000014.9:g.53951920G>T	gnomAD
RCV000290196	p.Thr102Ala	missense variant	-	NC_000014.9:g.53951919T>C	ClinVar
rs202159001	p.Thr102Ala	missense variant	-	NC_000014.9:g.53951919T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs371239780	p.Thr102Ile	missense variant	-	NC_000014.9:g.53951918G>A	ESP,ExAC,TOPMed,gnomAD
rs1177418822	p.Gly103Ser	missense variant	-	NC_000014.9:g.53951916C>T	gnomAD
NCI-TCGA novel	p.Leu104Phe	missense variant	-	NC_000014.9:g.53951913G>A	NCI-TCGA
rs1322581101	p.Glu105Lys	missense variant	-	NC_000014.9:g.53951910C>T	gnomAD
COSM4830112	p.Glu105Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53951910C>G	NCI-TCGA Cosmic
rs1456141352	p.Tyr106His	missense variant	-	NC_000014.9:g.53951907A>G	gnomAD
rs1344050675	p.Tyr106Cys	missense variant	-	NC_000014.9:g.53951906T>C	gnomAD
rs1454041222	p.Glu108Gln	missense variant	-	NC_000014.9:g.53951901C>G	TOPMed
rs773235106	p.Arg109Leu	missense variant	-	NC_000014.9:g.53951897C>A	ExAC,TOPMed,gnomAD
rs773235106	p.Arg109His	missense variant	-	NC_000014.9:g.53951897C>T	ExAC,TOPMed,gnomAD
rs773235106	p.Arg109Pro	missense variant	-	NC_000014.9:g.53951897C>G	ExAC,TOPMed,gnomAD
rs1288064472	p.Arg109Cys	missense variant	-	NC_000014.9:g.53951898G>A	TOPMed
rs991708313	p.Pro110Leu	missense variant	-	NC_000014.9:g.53951894G>A	TOPMed,gnomAD
rs549252141	p.Arg113Pro	missense variant	-	NC_000014.9:g.53951885C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs549252141	p.Arg113Gln	missense variant	-	NC_000014.9:g.53951885C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747238009	p.Ala114Ser	missense variant	-	NC_000014.9:g.53951883C>A	ExAC,gnomAD
rs750427266	p.Thr116Ser	missense variant	-	NC_000014.9:g.53951876G>C	ExAC,gnomAD
rs750427266	p.Thr116Ser	missense variant	-	NC_000014.9:g.53951876G>C	UniProt,dbSNP
VAR_043533	p.Thr116Ser	missense variant	-	NC_000014.9:g.53951876G>C	UniProt
rs750427266	p.Thr116Ile	missense variant	-	NC_000014.9:g.53951876G>A	ExAC,gnomAD
rs758526357	p.Thr116Ala	missense variant	-	NC_000014.9:g.53951877T>C	ExAC,gnomAD
rs527591537	p.Val117Leu	missense variant	-	NC_000014.9:g.53951874C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527591537	p.Val117Met	missense variant	-	NC_000014.9:g.53951874C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000644619	p.His121Tyr	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951862G>A	ClinVar
rs376960358	p.His121Arg	missense variant	-	NC_000014.9:g.53951861T>C	ESP,ExAC,TOPMed,gnomAD
rs754308298	p.His121Tyr	missense variant	-	NC_000014.9:g.53951862G>A	ExAC,gnomAD
RCV000022458	p.His121Arg	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951861T>C	ClinVar
rs1185134822	p.His122Arg	missense variant	-	NC_000014.9:g.53951858T>C	TOPMed
rs766091993	p.Glu123Lys	missense variant	-	NC_000014.9:g.53951856C>T	ExAC,TOPMed,gnomAD
rs976229577	p.Glu124Lys	missense variant	-	NC_000014.9:g.53951853C>T	TOPMed,gnomAD
rs781409191	p.His125Tyr	missense variant	-	NC_000014.9:g.53950886G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu126Val	missense variant	-	NC_000014.9:g.53950883G>C	NCI-TCGA
RCV000481644	p.Glu127Ter	frameshift	-	NC_000014.9:g.53950869_53950881del	ClinVar
rs1274761010	p.Asn128Ser	missense variant	-	NC_000014.9:g.53950876T>C	TOPMed,gnomAD
rs1439264646	p.Pro130Leu	missense variant	-	NC_000014.9:g.53950870G>A	gnomAD
rs1257520804	p.Pro130Ala	missense variant	-	NC_000014.9:g.53950871G>C	TOPMed
rs199935719	p.Thr132Ala	missense variant	-	NC_000014.9:g.53950865T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199935719	p.Thr132Ser	missense variant	-	NC_000014.9:g.53950865T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1009117343	p.Ser133Asn	missense variant	-	NC_000014.9:g.53950861C>T	TOPMed
rs750057569	p.Asn135Asp	missense variant	-	NC_000014.9:g.53950856T>C	ExAC,TOPMed,gnomAD
COSM433139	p.Asn135Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950855T>A	NCI-TCGA Cosmic
rs764897002	p.Ser136Thr	missense variant	-	NC_000014.9:g.53950853A>T	ExAC,gnomAD
rs756790824	p.Ala137Pro	missense variant	-	NC_000014.9:g.53950850C>G	ExAC,gnomAD
rs773804981	p.Arg139His	missense variant	-	NC_000014.9:g.53950843C>T	ExAC,TOPMed,gnomAD
rs753312749	p.Arg139Cys	missense variant	-	NC_000014.9:g.53950844G>A	ExAC,gnomAD
rs1235554786	p.Phe140Ile	missense variant	-	NC_000014.9:g.53950841A>T	TOPMed,gnomAD
COSM956290	p.Leu141Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950838G>T	NCI-TCGA Cosmic
rs1050432864	p.Ser145Thr	missense variant	-	NC_000014.9:g.53950825C>G	gnomAD
rs1050432864	p.Ser145Asn	missense variant	-	NC_000014.9:g.53950825C>T	gnomAD
rs760592277	p.Pro148Ser	missense variant	-	NC_000014.9:g.53950817G>A	ExAC,gnomAD
rs767216159	p.Asn150Lys	missense variant	-	NC_000014.9:g.53950809G>C	UniProt,dbSNP
VAR_043534	p.Asn150Lys	missense variant	-	NC_000014.9:g.53950809G>C	UniProt
rs767216159	p.Asn150Lys	missense variant	-	NC_000014.9:g.53950809G>C	ExAC,TOPMed,gnomAD
RCV000782227	p.Asn150Lys	missense variant	-	NC_000014.9:g.53950809G>C	ClinVar
COSM1579836	p.Glu151Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950808C>T	NCI-TCGA Cosmic
rs1207131563	p.Val152Met	missense variant	-	NC_000014.9:g.53950805C>T	gnomAD
rs17563	p.Val152Ala	missense variant	-	NC_000014.9:g.53950804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000178157	p.Val152Ala	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
RCV000835434	p.Val152Ala	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
rs935421961	p.Ser154Phe	missense variant	-	NC_000014.9:g.53950798G>A	TOPMed,gnomAD
COSM4849715	p.Ser155Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950795G>C	NCI-TCGA Cosmic
COSM698354	p.Ser155Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950796A>C	NCI-TCGA Cosmic
rs1305060001	p.Ala156Gly	missense variant	-	NC_000014.9:g.53950792G>C	gnomAD
rs1440968616	p.Glu157Gly	missense variant	-	NC_000014.9:g.53950789T>C	gnomAD
rs774455359	p.Arg159Trp	missense variant	-	NC_000014.9:g.53950784G>A	ExAC,TOPMed,gnomAD
rs777406477	p.Arg159Gln	missense variant	-	NC_000014.9:g.53950783C>T	ExAC,gnomAD
rs749431429	p.Phe161Leu	missense variant	-	NC_000014.9:g.53950778A>G	ExAC,TOPMed,gnomAD
rs770493925	p.Arg162Gln	missense variant	-	NC_000014.9:g.53950774C>T	ExAC,TOPMed,gnomAD
rs773416502	p.Arg162Trp	missense variant	-	NC_000014.9:g.53950775G>A	ExAC,TOPMed,gnomAD
rs1174412151	p.Gln164Arg	missense variant	-	NC_000014.9:g.53950768T>C	gnomAD
NCI-TCGA novel	p.Gln164His	missense variant	-	NC_000014.9:g.53950767C>A	NCI-TCGA
NCI-TCGA novel	p.Asp166Tyr	missense variant	-	NC_000014.9:g.53950763C>A	NCI-TCGA
rs372637689	p.Asp166Asn	missense variant	-	NC_000014.9:g.53950763C>T	ESP,ExAC,TOPMed,gnomAD
rs373924774	p.Gly168Arg	missense variant	-	NC_000014.9:g.53950757C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly168Asp	missense variant	-	NC_000014.9:g.53950756C>T	NCI-TCGA
VAR_058316	p.Gly168Ala	Missense	-	-	UniProt
rs1179170589	p.Asp170Val	missense variant	-	NC_000014.9:g.53950750T>A	gnomAD
rs747360940	p.Asp170Glu	missense variant	-	NC_000014.9:g.53950749A>T	ExAC,gnomAD
RCV000485349	p.Trp171Ter	nonsense	-	NC_000014.9:g.53950747C>T	ClinVar
rs1064796998	p.Trp171Ter	stop gained	-	NC_000014.9:g.53950747C>T	-
rs200123542	p.Glu172Lys	missense variant	-	NC_000014.9:g.53950745C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1209155526	p.Arg173Ser	missense variant	-	NC_000014.9:g.53950740C>A	gnomAD
rs1486964955	p.Gly174Ser	missense variant	-	NC_000014.9:g.53950739C>T	gnomAD
rs1252264079	p.Gly174Asp	missense variant	-	NC_000014.9:g.53950738C>T	TOPMed
rs1281665131	p.His176Arg	missense variant	-	NC_000014.9:g.53950732T>C	gnomAD
rs1233416192	p.His176Gln	missense variant	-	NC_000014.9:g.53950731G>T	gnomAD
rs201411996	p.Arg177His	missense variant	-	NC_000014.9:g.53950729C>T	ExAC,TOPMed,gnomAD
rs1315829748	p.Arg177Cys	missense variant	-	NC_000014.9:g.53950730G>A	gnomAD
rs1177781582	p.Asn179Ser	missense variant	-	NC_000014.9:g.53950723T>C	TOPMed
rs1225147273	p.Ile180Val	missense variant	-	NC_000014.9:g.53950721T>C	gnomAD
rs917187711	p.Val183Ile	missense variant	-	NC_000014.9:g.53950712C>T	TOPMed,gnomAD
rs777260120	p.Met184Val	missense variant	-	NC_000014.9:g.53950709T>C	ExAC,gnomAD
rs1377262305	p.Met184Thr	missense variant	-	NC_000014.9:g.53950708A>G	gnomAD
NCI-TCGA novel	p.Lys185Glu	missense variant	-	NC_000014.9:g.53950706T>C	NCI-TCGA
rs1452882837	p.Pro186Ser	missense variant	-	NC_000014.9:g.53950703G>A	gnomAD
rs755552169	p.Pro187Leu	missense variant	-	NC_000014.9:g.53950699G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala188Ser	missense variant	-	NC_000014.9:g.53950697C>A	NCI-TCGA
rs752585643	p.Ala188Val	missense variant	-	NC_000014.9:g.53950696G>A	ExAC,gnomAD
rs752585643	p.Ala188Gly	missense variant	-	NC_000014.9:g.53950696G>C	ExAC,gnomAD
rs767438166	p.Glu189Val	missense variant	-	NC_000014.9:g.53950693T>A	ExAC,gnomAD
rs759277724	p.Val190Met	missense variant	-	NC_000014.9:g.53950691C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val190Ala	missense variant	-	NC_000014.9:g.53950690A>G	NCI-TCGA
rs1436341659	p.Val191Leu	missense variant	-	NC_000014.9:g.53950688C>A	TOPMed
NCI-TCGA novel	p.Pro192Leu	missense variant	-	NC_000014.9:g.53950684G>A	NCI-TCGA
rs1174239631	p.Pro192Ser	missense variant	-	NC_000014.9:g.53950685G>A	TOPMed
rs147822607	p.Gly193Glu	missense variant	-	NC_000014.9:g.53950681C>T	ESP,ExAC,gnomAD
rs147822607	p.Gly193Val	missense variant	-	NC_000014.9:g.53950681C>A	ESP,ExAC,gnomAD
rs1258588645	p.His194Tyr	missense variant	-	NC_000014.9:g.53950679G>A	gnomAD
NCI-TCGA novel	p.Ile196Met	missense variant	-	NC_000014.9:g.53950671G>C	NCI-TCGA
rs766768360	p.Thr197Ile	missense variant	-	NC_000014.9:g.53950669G>A	ExAC,TOPMed,gnomAD
rs387906597	p.Arg198Gly	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>C	ExAC,gnomAD
RCV000022455	p.Arg198Ter	nonsense	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950667G>A	ClinVar
RCV000022456	p.Arg198Ter	nonsense	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950667G>A	ClinVar
rs773506129	p.Arg198Gln	missense variant	-	NC_000014.9:g.53950666C>T	ExAC,TOPMed,gnomAD
rs387906597	p.Arg198Ter	stop gained	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>A	ExAC,gnomAD
rs1217271620	p.Asp201Ala	missense variant	-	NC_000014.9:g.53950657T>G	gnomAD
rs770008356	p.Thr202Met	missense variant	-	NC_000014.9:g.53950654G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg203Thr	missense variant	-	NC_000014.9:g.53950651C>G	NCI-TCGA
RCV000681619	p.Val205Ala	missense variant	Tooth agenesis	NC_000014.9:g.53950645A>G	ClinVar
rs1357135828	p.His207Asp	missense variant	-	NC_000014.9:g.53950640G>C	gnomAD
rs1357135828	p.His207Asn	missense variant	-	NC_000014.9:g.53950640G>T	gnomAD
rs769176364	p.His207Gln	missense variant	-	NC_000014.9:g.53950638G>T	ExAC,gnomAD
rs556725634	p.Asn208Ser	missense variant	-	NC_000014.9:g.53950636T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747381784	p.Asn208His	missense variant	-	NC_000014.9:g.53950637T>G	ExAC,gnomAD
rs777345984	p.Arg211Gln	missense variant	-	NC_000014.9:g.53950627C>T	ExAC,TOPMed,gnomAD
rs748940819	p.Arg211Trp	missense variant	-	NC_000014.9:g.53950628G>A	ExAC,TOPMed,gnomAD
rs1369424398	p.Phe215Leu	missense variant	-	NC_000014.9:g.53950616A>G	TOPMed,gnomAD
rs752209771	p.Ala220Val	missense variant	-	NC_000014.9:g.53950600G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu222Phe	missense variant	-	NC_000014.9:g.53950595G>A	NCI-TCGA
rs373023560	p.Arg223Cys	missense variant	-	NC_000014.9:g.53950592G>A	ESP,ExAC,TOPMed,gnomAD
rs373023560	p.Arg223Gly	missense variant	-	NC_000014.9:g.53950592G>C	ESP,ExAC,TOPMed,gnomAD
rs766285160	p.Arg223His	missense variant	-	NC_000014.9:g.53950591C>T	ExAC,TOPMed,gnomAD
rs369481900	p.Trp224Cys	missense variant	-	NC_000014.9:g.53950587C>A	ESP,ExAC,gnomAD
rs1464966808	p.Thr225Ile	missense variant	-	NC_000014.9:g.53950585G>A	gnomAD
rs144556455	p.Thr225Ala	missense variant	-	NC_000014.9:g.53950586T>C	ESP,ExAC,TOPMed,gnomAD
rs144556455	p.Thr225Ala	missense variant	-	NC_000014.9:g.53950586T>C	UniProt,dbSNP
VAR_043535	p.Thr225Ala	missense variant	-	NC_000014.9:g.53950586T>C	UniProt
rs144556455	p.Thr225Ser	missense variant	-	NC_000014.9:g.53950586T>A	ESP,ExAC,TOPMed,gnomAD
rs140590144	p.Arg226Gly	missense variant	-	NC_000014.9:g.53950583G>C	ESP,ExAC,TOPMed,gnomAD
rs140590144	p.Arg226Trp	missense variant	-	NC_000014.9:g.53950583G>A	UniProt,dbSNP
VAR_043536	p.Arg226Trp	missense variant	-	NC_000014.9:g.53950583G>A	UniProt
rs538330477	p.Arg226Gln	missense variant	-	NC_000014.9:g.53950582C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs140590144	p.Arg226Trp	missense variant	-	NC_000014.9:g.53950583G>A	ESP,ExAC,TOPMed,gnomAD
RCV000594335	p.Arg226Trp	missense variant	-	NC_000014.9:g.53950583G>A	ClinVar
COSM4893282	p.Glu227Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950580C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys228Glu	missense variant	-	NC_000014.9:g.53950577T>C	NCI-TCGA
rs1355254921	p.Lys228Arg	missense variant	-	NC_000014.9:g.53950576T>C	TOPMed
rs775908956	p.Pro230Arg	missense variant	-	NC_000014.9:g.53950570G>C	ExAC,gnomAD
rs1019914230	p.Tyr232Asp	missense variant	-	NC_000014.9:g.53950565A>C	TOPMed
rs1329613424	p.Leu234Val	missense variant	-	NC_000014.9:g.53950559G>C	TOPMed
rs746179366	p.Ile236Leu	missense variant	-	NC_000014.9:g.53950553T>G	ExAC,TOPMed,gnomAD
rs1297626764	p.Glu237Lys	missense variant	-	NC_000014.9:g.53950550C>T	TOPMed,gnomAD
rs1292637209	p.Val238Met	missense variant	-	NC_000014.9:g.53950547C>T	gnomAD
NCI-TCGA novel	p.Leu241Ile	missense variant	-	NC_000014.9:g.53950538G>T	NCI-TCGA
rs1216902223	p.Leu241Phe	missense variant	-	NC_000014.9:g.53950538G>A	TOPMed
rs567804941	p.Thr244Asn	missense variant	-	NC_000014.9:g.53950528G>T	1000Genomes,ExAC,gnomAD
rs567804941	p.Thr244Ile	missense variant	-	NC_000014.9:g.53950528G>A	1000Genomes,ExAC,gnomAD
rs769454152	p.Arg245Trp	missense variant	-	NC_000014.9:g.53950526G>A	ExAC,TOPMed,gnomAD
rs149883007	p.Arg245Gln	missense variant	-	NC_000014.9:g.53950525C>T	ESP,ExAC,TOPMed,gnomAD
rs1217451740	p.His247Asp	missense variant	-	NC_000014.9:g.53950520G>C	TOPMed
NCI-TCGA novel	p.Gly249Ala	missense variant	-	NC_000014.9:g.53950513C>G	NCI-TCGA
COSM956289	p.Gln250His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950509C>A	NCI-TCGA Cosmic
RCV000490360	p.His251Tyr	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950508G>A	ClinVar
rs200671094	p.His251Tyr	missense variant	-	NC_000014.9:g.53950508G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200671094	p.His251Asn	missense variant	-	NC_000014.9:g.53950508G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM956288	p.Val252Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950505C>T	NCI-TCGA Cosmic
rs1171733069	p.Ser255Asn	missense variant	-	NC_000014.9:g.53950495C>T	TOPMed,gnomAD
rs746984770	p.Arg256Gln	missense variant	-	NC_000014.9:g.53950492C>T	ExAC,gnomAD
rs889958974	p.Ser257Leu	missense variant	-	NC_000014.9:g.53950489G>A	TOPMed
rs780091128	p.Ser257Pro	missense variant	-	NC_000014.9:g.53950490A>G	ExAC,gnomAD
rs1195073655	p.Pro259Leu	missense variant	-	NC_000014.9:g.53950483G>A	gnomAD
rs1195073655	p.Pro259His	missense variant	-	NC_000014.9:g.53950483G>T	gnomAD
rs1312619081	p.Ser262Asn	missense variant	-	NC_000014.9:g.53950474C>T	gnomAD
rs1252781950	p.Asn264Ser	missense variant	-	NC_000014.9:g.53950468T>C	TOPMed,gnomAD
rs750213467	p.Asn264Tyr	missense variant	-	NC_000014.9:g.53950469T>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp265Cys	missense variant	-	NC_000014.9:g.53950464C>A	NCI-TCGA
NCI-TCGA novel	p.Ala266GlyPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.53950462_53950463insCC	NCI-TCGA
rs898938343	p.Ala266Val	missense variant	-	NC_000014.9:g.53950462G>A	TOPMed
rs1347000643	p.Arg269Trp	missense variant	-	NC_000014.9:g.53950454G>A	TOPMed,gnomAD
rs534215890	p.Arg269Gln	missense variant	-	NC_000014.9:g.53950453C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775995114	p.Val273Ile	missense variant	-	NC_000014.9:g.53950442C>T	ExAC,gnomAD
rs775995114	p.Val273Phe	missense variant	-	NC_000014.9:g.53950442C>A	ExAC,gnomAD
rs775995114	p.Val273Leu	missense variant	-	NC_000014.9:g.53950442C>G	ExAC,gnomAD
rs767969165	p.His277Leu	missense variant	-	NC_000014.9:g.53950429T>A	ExAC,gnomAD
rs767969165	p.His277Arg	missense variant	-	NC_000014.9:g.53950429T>C	ExAC,gnomAD
rs776094026	p.Arg280Gln	missense variant	-	NC_000014.9:g.53950420C>T	ExAC,gnomAD
rs566882530	p.Arg280Gly	missense variant	-	NC_000014.9:g.53950421G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs566882530	p.Arg280Trp	missense variant	-	NC_000014.9:g.53950421G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746478907	p.Ala283Gly	missense variant	-	NC_000014.9:g.53950411G>C	ExAC,TOPMed,gnomAD
rs746478907	p.Ala283Val	missense variant	-	NC_000014.9:g.53950411G>A	ExAC,TOPMed,gnomAD
rs538802825	p.Thr285Asn	missense variant	-	NC_000014.9:g.53950405G>T	TOPMed,gnomAD
rs538802825	p.Thr285Ile	missense variant	-	NC_000014.9:g.53950405G>A	TOPMed,gnomAD
rs550226363	p.Arg286Pro	missense variant	-	NC_000014.9:g.53950402C>G	ExAC,TOPMed,gnomAD
rs1377644626	p.Arg286Ter	stop gained	-	NC_000014.9:g.53950403G>A	gnomAD
rs550226363	p.Arg286Gln	missense variant	-	NC_000014.9:g.53950402C>T	ExAC,TOPMed,gnomAD
rs550226363	p.Arg286Leu	missense variant	-	NC_000014.9:g.53950402C>A	ExAC,TOPMed,gnomAD
rs1435675398	p.Arg287Cys	missense variant	-	NC_000014.9:g.53950400G>A	gnomAD
RCV000644620	p.Arg287His	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950399C>T	ClinVar
rs1435675398	p.Arg287Gly	missense variant	-	NC_000014.9:g.53950400G>C	gnomAD
rs121912768	p.Arg287Leu	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121912768	p.Arg287His	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121912768	p.Arg287His	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt,dbSNP
VAR_058317	p.Arg287His	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt
rs370847935	p.Arg288Gln	missense variant	-	NC_000014.9:g.53950396C>T	ESP,ExAC,TOPMed,gnomAD
rs756935500	p.Arg288Trp	missense variant	-	NC_000014.9:g.53950397G>A	ExAC,gnomAD
rs764169451	p.Arg289Lys	missense variant	-	NC_000014.9:g.53950393C>T	ExAC,gnomAD
rs1345812773	p.Ala290Thr	missense variant	-	NC_000014.9:g.53950391C>T	gnomAD
rs756246578	p.Lys291Glu	missense variant	-	NC_000014.9:g.53950388T>C	ExAC,gnomAD
rs768059149	p.Arg292Leu	missense variant	-	NC_000014.9:g.53950384C>A	ExAC,gnomAD
rs1237178811	p.Arg292Cys	missense variant	-	NC_000014.9:g.53950385G>A	gnomAD
rs768059149	p.Arg292His	missense variant	-	NC_000014.9:g.53950384C>T	ExAC,gnomAD
rs1413929466	p.Ser293Ile	missense variant	-	NC_000014.9:g.53950381C>A	gnomAD
rs760034508	p.Ser293Gly	missense variant	-	NC_000014.9:g.53950382T>C	ExAC,TOPMed,gnomAD
rs774776317	p.Pro294Arg	missense variant	-	NC_000014.9:g.53950378G>C	ExAC,gnomAD
rs763183438	p.Ser298Ala	missense variant	-	NC_000014.9:g.53950367A>C	ExAC,gnomAD
rs915821425	p.Arg300Gln	missense variant	-	NC_000014.9:g.53950360C>T	TOPMed,gnomAD
RCV000431465	p.Arg300Trp	missense variant	-	NC_000014.9:g.53950361G>A	ClinVar
rs182373336	p.Arg300Trp	missense variant	-	NC_000014.9:g.53950361G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs915821425	p.Arg300Pro	missense variant	-	NC_000014.9:g.53950360C>G	TOPMed,gnomAD
rs568950541	p.Ala301Thr	missense variant	-	NC_000014.9:g.53950358C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1472412685	p.Ala301Val	missense variant	-	NC_000014.9:g.53950357G>A	gnomAD
NCI-TCGA novel	p.Lys304Asn	missense variant	-	NC_000014.9:g.53950347C>A	NCI-TCGA
rs775129155	p.Lys304Glu	missense variant	-	NC_000014.9:g.53950349T>C	ExAC,gnomAD
rs1255053325	p.Asn305Asp	missense variant	-	NC_000014.9:g.53950346T>C	gnomAD
rs1255053325	p.Asn305His	missense variant	-	NC_000014.9:g.53950346T>G	gnomAD
rs1212973775	p.Asn305Lys	missense variant	-	NC_000014.9:g.53950344A>C	gnomAD
rs1442880704	p.Lys306Asn	missense variant	-	NC_000014.9:g.53950341C>A	gnomAD
rs745803587	p.Arg309Trp	missense variant	-	NC_000014.9:g.53950334G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg309Leu	missense variant	-	NC_000014.9:g.53950333C>A	NCI-TCGA
rs778657318	p.Arg309Gln	missense variant	-	NC_000014.9:g.53950333C>T	ExAC,gnomAD
rs770777693	p.Arg310Cys	missense variant	-	NC_000014.9:g.53950331G>A	ExAC,gnomAD
rs1268997444	p.Arg310His	missense variant	-	NC_000014.9:g.53950330C>T	gnomAD
rs748992658	p.His311Leu	missense variant	-	NC_000014.9:g.53950327T>A	ExAC,gnomAD
rs778093557	p.Ser312Leu	missense variant	-	NC_000014.9:g.53950324G>A	ExAC,TOPMed,gnomAD
rs1449428755	p.Tyr314Cys	missense variant	-	NC_000014.9:g.53950318T>C	gnomAD
NCI-TCGA novel	p.Val315Ala	missense variant	-	NC_000014.9:g.53950315A>G	NCI-TCGA
rs1376463051	p.Ser318Asn	missense variant	-	NC_000014.9:g.53950306C>T	TOPMed
rs1225275541	p.Asp319Asn	missense variant	-	NC_000014.9:g.53950304C>T	TOPMed
rs1352713791	p.Ile326Thr	missense variant	-	NC_000014.9:g.53950282A>G	TOPMed
rs1159448000	p.Val327Met	missense variant	-	NC_000014.9:g.53950280C>T	gnomAD
rs1460556403	p.Ala328Ser	missense variant	-	NC_000014.9:g.53950277C>A	gnomAD
rs1214439151	p.Gly331Arg	missense variant	-	NC_000014.9:g.53950268C>G	TOPMed
COSM3968841	p.Gly331Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950267C>T	NCI-TCGA Cosmic
rs550409227	p.Ala334Val	missense variant	-	NC_000014.9:g.53950258G>A	1000Genomes,ExAC,gnomAD
rs1384567460	p.Ala334Thr	missense variant	-	NC_000014.9:g.53950259C>T	TOPMed
COSM433138	p.Cys337Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.53950248G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp340Gly	missense variant	-	NC_000014.9:g.53950240T>C	NCI-TCGA
rs190987062	p.Asp340Asn	missense variant	-	NC_000014.9:g.53950241C>T	1000Genomes
rs1264875263	p.Phe343Ser	missense variant	-	NC_000014.9:g.53950231A>G	gnomAD
rs121912766	p.Ala346Val	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950222G>A	-
rs121912766	p.Ala346Val	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt,dbSNP
VAR_058318	p.Ala346Val	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt
RCV000019276	p.Ala346Val	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	ClinVar
rs763416550	p.Asp347Gly	missense variant	-	NC_000014.9:g.53950219T>C	ExAC,gnomAD
rs1213342000	p.His348Tyr	missense variant	-	NC_000014.9:g.53950217G>A	gnomAD
rs763867295	p.His348Pro	missense variant	-	NC_000014.9:g.53950216T>G	ExAC
rs199621081	p.His348Gln	missense variant	-	NC_000014.9:g.53950215G>T	1000Genomes
rs1332893471	p.Asn350Lys	missense variant	-	NC_000014.9:g.53950209G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr352Ser	missense variant	-	NC_000014.9:g.53950205T>A	NCI-TCGA
NCI-TCGA novel	p.Ala355Thr	missense variant	-	NC_000014.9:g.53950196C>T	NCI-TCGA
COSM1370128	p.Ala355Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950195G>A	NCI-TCGA Cosmic
rs1275495197	p.Val357Met	missense variant	-	NC_000014.9:g.53950190C>T	gnomAD
rs760397289	p.Thr359Ile	missense variant	-	NC_000014.9:g.53950183G>A	ExAC,TOPMed,gnomAD
rs760397289	p.Thr359Asn	missense variant	-	NC_000014.9:g.53950183G>T	ExAC,TOPMed,gnomAD
rs546306238	p.Asn362Ser	missense variant	-	NC_000014.9:g.53950174T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser363Phe	missense variant	-	NC_000014.9:g.53950171G>A	NCI-TCGA
NCI-TCGA novel	p.Asn365Lys	missense variant	-	NC_000014.9:g.53950164A>C	NCI-TCGA
rs979032376	p.Ser366Ala	missense variant	-	NC_000014.9:g.53950163A>C	TOPMed
rs1433417350	p.Ser366Phe	missense variant	-	NC_000014.9:g.53950162G>A	gnomAD
rs1320581580	p.Ser367Thr	missense variant	-	NC_000014.9:g.53950159C>G	gnomAD
rs1320581580	p.Ser367Thr	missense variant	-	NC_000014.9:g.53950159C>G	UniProt,dbSNP
VAR_043537	p.Ser367Thr	missense variant	-	NC_000014.9:g.53950159C>G	UniProt
rs150746317	p.Ser367Arg	missense variant	-	NC_000014.9:g.53950160T>G	ESP,ExAC,TOPMed,gnomAD
COSM6076088	p.Lys370Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950149T>A	NCI-TCGA Cosmic
rs1439765696	p.Ala371Thr	missense variant	-	NC_000014.9:g.53950148C>T	gnomAD
rs1332872933	p.Val374Ala	missense variant	-	NC_000014.9:g.53950138A>G	TOPMed
rs1166736941	p.Leu378Met	missense variant	-	NC_000014.9:g.53950127G>T	gnomAD
rs774372624	p.Ser379Asn	missense variant	-	NC_000014.9:g.53950123C>T	ExAC,gnomAD
rs1020828966	p.Ile381Val	missense variant	-	NC_000014.9:g.53950118T>C	TOPMed
rs1166095129	p.Tyr385Phe	missense variant	-	NC_000014.9:g.53950105T>A	gnomAD
NCI-TCGA novel	p.Tyr385Cys	missense variant	-	NC_000014.9:g.53950105T>C	NCI-TCGA
COSM6140882	p.Asp387Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950100C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp390Tyr	missense variant	-	NC_000014.9:g.53950091C>A	NCI-TCGA
rs755080929	p.Lys391Arg	missense variant	-	NC_000014.9:g.53950087T>C	ExAC,gnomAD
rs781343227	p.Lys391Glu	missense variant	-	NC_000014.9:g.53950088T>C	ExAC
COSM4051316	p.Val393Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950081A>G	NCI-TCGA Cosmic
rs965380934	p.Leu394Pro	missense variant	-	NC_000014.9:g.53950078A>G	TOPMed
NCI-TCGA novel	p.Asn396Ser	missense variant	-	NC_000014.9:g.53950072T>C	NCI-TCGA
COSM956284	p.Asn396Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950071A>C	NCI-TCGA Cosmic
rs751566461	p.Tyr397His	missense variant	-	NC_000014.9:g.53950070A>G	ExAC
NCI-TCGA novel	p.Glu399Gln	missense variant	-	NC_000014.9:g.53950064C>G	NCI-TCGA
rs1237655395	p.Glu403Gln	missense variant	-	NC_000014.9:g.53950052C>G	TOPMed
COSM6076089	p.Gly404Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950048C>A	NCI-TCGA Cosmic
COSM1323482	p.Gly404Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950049C>G	NCI-TCGA Cosmic
rs1271270966	p.Cys407Tyr	missense variant	-	NC_000014.9:g.53950039C>T	gnomAD
rs750868626	p.Arg408His	missense variant	-	NC_000014.9:g.53950036C>T	ExAC,TOPMed,gnomAD
rs868400180	p.Arg408Cys	missense variant	-	NC_000014.9:g.53950037G>A	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002871	Anemia	disease	BEFREE
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0003119	Anophthalmos	disease	BEFREE;HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0003872	Arthritis, Psoriatic	disease	CTD_human
C0003873	Rheumatoid Arthritis	disease	BEFREE;CTD_human;LHGDN
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0004763	Barrett Esophagus	disease	BEFREE;RGD
C0005940	Bone Diseases	group	BEFREE
C0005956	Bone Marrow Diseases	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006272	Bronchiolitis Obliterans	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007117	Basal cell carcinoma	disease	LHGDN
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;LHGDN
C0008925	Cleft Palate	disease	BEFREE;LHGDN
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	BEFREE;CTD_human
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0011884	Diabetic Retinopathy	disease	LHGDN
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0014116	Endocardial Cushion Defects	group	MGD
C0014175	Endometriosis	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE;RGD
C0014869	Peptic Esophagitis	disease	RGD
C0015397	Disorder of eye	group	BEFREE
C0016037	Fibrodysplasia Ossificans Progressiva	disease	BEFREE;MGD
C0016059	Fibrosis	phenotype	LHGDN
C0017601	Glaucoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0019284	Diaphragmatic Hernia	phenotype	CTD_human
C0020255	Hydrocephalus	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;LHGDN
C0021368	Inflammation	phenotype	LHGDN
C0022336	Creutzfeldt-Jakob disease	disease	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023474	Leukemia, Myeloid, Chronic-Phase	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023786	Mucopolysaccharidosis I	disease	LHGDN
C0023895	Liver diseases	group	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024115	Lung diseases	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0026010	Microphthalmos	disease	BEFREE;HPO
C0026267	Mitral Valve Prolapse Syndrome	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0026857	Musculoskeletal Diseases	group	BEFREE
C0027092	Myopia	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027794	Neural Tube Defects	group	BEFREE
C0027809	Neurilemmoma	disease	LHGDN
C0028877	Odontogenesis	phenotype	GWASDB
C0029408	Degenerative polyarthritis	disease	BEFREE;CTD_human;LHGDN
C0029410	Osteoarthritis of hip	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE
C0029458	Osteoporosis, Postmenopausal	disease	BEFREE
C0029899	Otosclerosis	disease	BEFREE;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030552	Paresis	phenotype	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE;LHGDN
C0032285	Pneumonia	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0033375	Prolactinoma	disease	BEFREE;CTD_human;RGD
C0033578	Prostatic Neoplasms	group	BEFREE;LHGDN
C0035309	Retinal Diseases	group	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0037928	Spinal Cord Diseases	group	BEFREE
C0039075	Syndactyly	disease	BEFREE
C0042373	Vascular Diseases	group	BEFREE
C0042842	Vitamin A Deficiency	disease	CTD_human
C0080178	Spina Bifida	disease	LHGDN
C0085681	Hyperphosphatemia (disorder)	disease	BEFREE
C0086543	Cataract	disease	HPO
C0086743	Osteoarthrosis Deformans	disease	CTD_human
C0149721	Left Ventricular Hypertrophy	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0151779	Cutaneous Melanoma	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152421	Macrotia	disease	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0158646	Cleft palate with cleft lip	disease	BEFREE;HPO;ORPHANET
C0206659	Embryonal Carcinoma	disease	BEFREE
C0221357	Brachydactyly	disease	HPO
C0235831	Renal Cell Dysplasia	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0239676	High forehead	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242383	Age related macular degeneration	disease	BEFREE
C0264885	Myxoid transformation of mitral valve	disease	BEFREE
C0265264	Holt-Oram syndrome	disease	BEFREE
C0265660	Syndactyly of the toes	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0266294	Unilateral agenesis of kidney	disease	ORPHANET
C0266544	Microcornea	disease	HPO
C0266617	Congenital anomaly of face	group	BEFREE
C0268615	5,10-Methylenetetrahydrofolate reductase deficiency	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0342384	Idiopathic hypogonadotropic hypogonadism	disease	BEFREE
C0344452	Microprolactinoma	disease	CTD_human
C0344453	Macroprolactinoma	disease	CTD_human
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0345963	Benign neoplasm of lung	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376154	Skin callus	phenotype	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0409952	Idiopathic osteoarthritis	disease	BEFREE
C0424731	Single transverse palmar crease	phenotype	HPO
C0428796	Senile sclerosis of aortic cusp	disease	BEFREE
C0431659	Hypoplasia of scrotum	phenotype	HPO
C0455792	Small scrotum	phenotype	HPO
C0477984	Other congenital malformations of anterior segment of eye	disease	MGD
C0554972	Large auricle	phenotype	HPO
C0555198	Malignant Glioma	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE;HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0685787	Cleft face	disease	HPO
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0795898	Cleft Palate-Lateral Synechia Syndrome	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0850666	Infection caused by Helicobacter pylori	disease	BEFREE
C0854723	Retinal Dystrophies	group	BEFREE
C0856169	Endothelial dysfunction	phenotype	BEFREE
C0878684	SHORT syndrome	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1167713	Decreased corneal diameter	phenotype	HPO
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1258085	Barrett Epithelium	disease	BEFREE
C1260894	Hypertrophic obesity	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306214	ACTH-Secreting Pituitary Adenoma	disease	CTD_human
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1335051	Non-Neoplastic Urinary System Disorder	disease	MGD
C1384584	Generalized osteoarthritis	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1510497	Lens Opacities	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human
C1568272	Tendinopathy	disease	BEFREE
C1737329	Dysmorphism	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1833563	Cleft Lip, Congenital Healed	disease	UNIPROT
C1834931	Cystic renal dysplasia	phenotype	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1839630	Severe muscular hypotonia	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1856117	Uplifted earlobe	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1863051	ALZHEIMER DISEASE 2	disease	BEFREE
C1864689	MICROPHTHALMIA, SYNDROMIC 6 (disorder)	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1864825	Frias syndrome	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1956346	Coronary Artery Disease	disease	BEFREE
C1968949	Cakut	disease	GENOMICS_ENGLAND
C2014414	orthopedic disorders	group	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2677434	OROFACIAL CLEFT 11	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C2678503	AXENFELD-RIEGER SYNDROME, TYPE 3	disease	MGD
C2900450	Other Creutzfeldt-Jakob disease	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3495559	Juvenile arthritis	disease	BEFREE
C3536714	Renal dysplasia	disease	BEFREE
C3714636	Pneumonitis	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3887486	Interstitial lung fibrosis	phenotype	BEFREE
C3898105	Oligoarticular Juvenile Idiopathic Arthritis	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4021758	Delayed CNS myelination	phenotype	HPO
C4021813	Oral cleft	disease	BEFREE;HPO
C4048228	Congenital anomaly of anterior segment of eye	disease	BEFREE
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IDA
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0008201	heparin binding	IEA
GO:0039706	co-receptor binding	IPI
GO:0042056	chemoattractant activity	IDA
GO:0070700	BMP receptor binding	IBA
GO:0070700	BMP receptor binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000186	activation of MAPKK activity	IDA
GO:0001649	osteoblast differentiation	IDA
GO:0001657	ureteric bud development	IDA
GO:0001658	branching involved in ureteric bud morphogenesis	IDA
GO:0001822	kidney development	IMP
GO:0001823	mesonephros development	IEP
GO:0001843	neural tube closure	IEA
GO:0001934	positive regulation of protein phosphorylation	IDA
GO:0001938	positive regulation of endothelial cell proliferation	IDA
GO:0001958	endochondral ossification	ISS
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA
GO:0002062	chondrocyte differentiation	ISS
GO:0002244	hematopoietic progenitor cell differentiation	IDA
GO:0002320	lymphoid progenitor cell differentiation	IMP
GO:0003014	renal system process	IEA
GO:0003130	BMP signaling pathway involved in heart induction	IMP
GO:0003139	secondary heart field specification	IMP
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003149	membranous septum morphogenesis	ISS
GO:0003180	aortic valve morphogenesis	ISS
GO:0003184	pulmonary valve morphogenesis	ISS
GO:0003197	endocardial cushion development	ISS
GO:0003279	cardiac septum development	TAS
GO:0003323	type B pancreatic cell development	IDA
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IDA
GO:0007182	common-partner SMAD protein phosphorylation	IDA
GO:0007224	smoothened signaling pathway	IEP
GO:0007281	germ cell development	IEA
GO:0007492	endoderm development	IEA
GO:0007500	mesodermal cell fate determination	IEA
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008285	negative regulation of cell population proliferation	IDA
GO:0009791	post-embryonic development	IDA
GO:0009948	anterior/posterior axis specification	IEA
GO:0010159	specification of animal organ position	IEA
GO:0010453	regulation of cell fate commitment	IDA
GO:0010595	positive regulation of endothelial cell migration	IDA
GO:0010628	positive regulation of gene expression	IDA
GO:0010629	negative regulation of gene expression	IDA
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0010942	positive regulation of cell death	IDA
GO:0021537	telencephalon development	IDA
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0021978	telencephalon regionalization	IEA
GO:0021983	pituitary gland development	IEA
GO:0030218	erythrocyte differentiation	IEA
GO:0030224	monocyte differentiation	IDA
GO:0030225	macrophage differentiation	IDA
GO:0030501	positive regulation of bone mineralization	IDA
GO:0030509	BMP signaling pathway	IMP
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	IBA
GO:0030513	positive regulation of BMP signaling pathway	ISS
GO:0032092	positive regulation of protein binding	IDA
GO:0032331	negative regulation of chondrocyte differentiation	IEA
GO:0032967	positive regulation of collagen biosynthetic process	IDA
GO:0033085	negative regulation of T cell differentiation in thymus	IMP
GO:0033088	negative regulation of immature T cell proliferation in thymus	IMP
GO:0034504	protein localization to nucleus	IDA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0035990	tendon cell differentiation	ISS
GO:0035993	deltoid tuberosity development	ISS
GO:0042306	regulation of protein import into nucleus	IDA
GO:0042326	negative regulation of phosphorylation	IDA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0042476	odontogenesis	IGI
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043065	positive regulation of apoptotic process	IDA
GO:0043066	negative regulation of apoptotic process	IDA
GO:0043066	negative regulation of apoptotic process	IBA
GO:0043401	steroid hormone mediated signaling pathway	IMP
GO:0043407	negative regulation of MAP kinase activity	IDA
GO:0043687	post-translational protein modification	TAS
GO:0044267	cellular protein metabolic process	TAS
GO:0045603	positive regulation of endothelial cell differentiation	IEA
GO:0045606	positive regulation of epidermal cell differentiation	IDA
GO:0045662	negative regulation of myoblast differentiation	IDA
GO:0045666	positive regulation of neuron differentiation	IEA
GO:0045669	positive regulation of osteoblast differentiation	IDA
GO:0045778	positive regulation of ossification	IDA
GO:0045786	negative regulation of cell cycle	IDA
GO:0045839	negative regulation of mitotic nuclear division	IDA
GO:0045843	negative regulation of striated muscle tissue development	IDA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI
GO:0048286	lung alveolus development	IDA
GO:0048392	intermediate mesodermal cell differentiation	IDA
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA
GO:0048663	neuron fate commitment	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048745	smooth muscle tissue development	ISS
GO:0048745	smooth muscle tissue development	IEP
GO:0048754	branching morphogenesis of an epithelial tube	IDA
GO:0050679	positive regulation of epithelial cell proliferation	IDA
GO:0050680	negative regulation of epithelial cell proliferation	IEA
GO:0050918	positive chemotaxis	IEA
GO:0051150	regulation of smooth muscle cell differentiation	IEA
GO:0055007	cardiac muscle cell differentiation	IEA
GO:0055020	positive regulation of cardiac muscle fiber development	IMP
GO:0060113	inner ear receptor cell differentiation	IEA
GO:0060197	cloacal septation	IEA
GO:0060235	lens induction in camera-type eye	IEA
GO:0060272	embryonic skeletal joint morphogenesis	IEA
GO:0060363	cranial suture morphogenesis	IEA
GO:0060391	positive regulation of SMAD protein signal transduction	IDA
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0060395	SMAD protein signal transduction	IDA
GO:0060395	SMAD protein signal transduction	IBA
GO:0060425	lung morphogenesis	IDA
GO:0060433	bronchus development	IDA
GO:0060438	trachea development	IDA
GO:0060440	trachea formation	IEA
GO:0060441	epithelial tube branching involved in lung morphogenesis	IDA
GO:0060442	branching involved in prostate gland morphogenesis	IEA
GO:0060449	bud elongation involved in lung branching	IEA
GO:0060502	epithelial cell proliferation involved in lung morphogenesis	IDA
GO:0060503	bud dilation involved in lung branching	IDA
GO:0060548	negative regulation of cell death	IDA
GO:0060592	mammary gland formation	IEA
GO:0060684	epithelial-mesenchymal cell signaling	IEA
GO:0060686	negative regulation of prostatic bud formation	IEA
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA
GO:0060976	coronary vasculature development	ISS
GO:0061036	positive regulation of cartilage development	IDA
GO:0061047	positive regulation of branching involved in lung morphogenesis	ISS
GO:0061149	BMP signaling pathway involved in ureter morphogenesis	ISS
GO:0061151	BMP signaling pathway involved in renal system segmentation	ISS
GO:0061155	pulmonary artery endothelial tube morphogenesis	IDA
GO:0061312	BMP signaling pathway involved in heart development	ISS
GO:0061626	pharyngeal arch artery morphogenesis	ISS
GO:0070244	negative regulation of thymocyte apoptotic process	IMP
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071773	cellular response to BMP stimulus	IMP
GO:0071893	BMP signaling pathway involved in nephric duct formation	IDA
GO:0072015	glomerular visceral epithelial cell development	IEA
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA
GO:0072104	glomerular capillary formation	ISS
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA
GO:0072138	mesenchymal cell proliferation involved in ureteric bud development	IEA
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA
GO:0072192	ureter epithelial cell differentiation	ISS
GO:0072193	ureter smooth muscle cell differentiation	ISS
GO:0072198	mesenchymal cell proliferation involved in ureter development	IEA
GO:0072200	negative regulation of mesenchymal cell proliferation involved in ureter development	IDA
GO:0072205	metanephric collecting duct development	ISS
GO:0090184	positive regulation of kidney development	IDA
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA
GO:0090194	negative regulation of glomerulus development	IDA
GO:1901964	positive regulation of cell proliferation involved in outflow tract morphogenesis	ISS
GO:1902894	negative regulation of pri-miRNA transcription by RNA polymerase II	IDA
GO:1903800	positive regulation of production of miRNAs involved in gene silencing by miRNA	IDA
GO:1905312	positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:2000005	negative regulation of metanephric S-shaped body morphogenesis	IDA
GO:2000007	negative regulation of metanephric comma-shaped body morphogenesis	IDA
GO:2000137	negative regulation of cell proliferation involved in heart morphogenesis	IMP
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	ISS
GO:0003150	muscular septum morphogenesis	ISS
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003215	cardiac right ventricle morphogenesis	ISS
GO:0003277	apoptotic process involved in endocardial cushion morphogenesis	ISS
GO:1902893	regulation of pri-miRNA transcription by RNA polymerase II	IMP
GO:1905072	cardiac jelly development	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	ISS
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	ISS
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-2129379	Molecules associated with elastic fibres	TAS
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-8957275	Post-translational protein phosphorylation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of BMP4 mRNA	16054899
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of BMP4 mRNA	19933214
C094210	2,2'-(hydroxynitrosohydrazono)bis-ethanamine	2,2'-(hydroxynitrosohydrazono)bis-ethanamine results in increased expression of BMP4 mRNA	15991191
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of BMP4 mRNA	23196670
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with BMP4 protein] results in decreased methylation of ELF5 promoter	25670856
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of BMP4 mRNA	22079614
C507011	A-83-01	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of BMP4 mRNA	31023824
C496492	abrine	abrine results in decreased expression of BMP4 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of BMP4 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of BMP4 mRNA	29261810
D000537	Aluminum Oxide	Aluminum Oxide results in increased expression of BMP4 mRNA	19464052
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of BMP4 mRNA	16483693
C061374	antimonite	antimonite results in decreased expression of BMP4 mRNA	17400267
C061374	antimonite	RTKI cpd inhibits the reaction [antimonite results in decreased expression of BMP4 mRNA]	17400267
D001149	Arsenates	Arsenates results in increased expression of BMP4 mRNA	12773770
D001151	Arsenic	Arsenic results in increased expression of BMP4 mRNA	12773770
C015001	arsenite	arsenite results in decreased expression of BMP4 mRNA	17400267
C015001	arsenite	RTKI cpd inhibits the reaction [arsenite results in decreased expression of BMP4 mRNA]	17400267
D001205	Ascorbic Acid	Ascorbic Acid affects the expression of BMP4 mRNA	21281732
C547126	AZM551248	AZM551248 results in decreased expression of BMP4 mRNA	22323515
D001414	Bacitracin	Bacitracin results in decreased expression of BMP4 mRNA	18289764
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with fluoranthene] results in decreased expression of BMP4 mRNA	25412620
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BMP4 mRNA	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BMP4 mRNA	21839799
D001623	Betamethasone	Betamethasone inhibits the reaction [lipopolysaccharide, E coli O55-B5 results in decreased expression of BMP4 protein]	22693607
D001647	Bile Acids and Salts	Bile Acids and Salts results in increased expression of BMP4 mRNA	25973022
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of BMP4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of BMP4 mRNA	30075455
C006780	bisphenol A	bisphenol A affects the expression of BMP4 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of BMP4 mRNA	27685785
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of BMP4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of BMP4 mRNA	22718145
C006780	bisphenol A	bisphenol A results in decreased expression of BMP4 mRNA	25181051
C006780	bisphenol A	bisphenol A affects the activity of BMP4 protein	29959737
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of BMP4 mRNA	30951980
D003994	Bucladesine	Bucladesine inhibits the reaction [BMP4 protein results in increased expression of SMAD6 mRNA]	20522807
D002066	Busulfan	Busulfan results in decreased expression of BMP4 mRNA	15786497
D019256	Cadmium Chloride	[sodium arsenite co-treated with Cadmium Chloride co-treated with chromic oxide co-treated with chromous chloride co-treated with lead acetate] results in increased expression of BMP4 mRNA	12634122
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of BMP4 mRNA	21297351
D002117	Calcitriol	Calcitriol promotes the reaction [BMP4 protein results in increased expression of SOST mRNA]	15268896
D002118	Calcium	[Calcium binds to MGP protein] which binds to and results in decreased activity of BMP4 protein	18369157
D002118	Calcium	[Edetic Acid inhibits the reaction [Calcium binds to MGP protein]] inhibits the reaction [MGP protein binds to BMP4 protein]	18369157
D002118	Calcium	Calcium affects the expression of BMP4 mRNA	15913539
D002220	Carbamazepine	Carbamazepine affects the expression of BMP4 mRNA	24752500
C054133	casticin	casticin results in increased expression of BMP4 mRNA	27862857
C084597	chlorcyclizine	chlorcyclizine results in increased expression of BMP4 mRNA	21058326
D002713	Chlorine	[Ozone co-treated with Chlorine] results in increased expression of BMP4 mRNA	18636392
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BMP4 gene	20938992
C023600	chromic oxide	[sodium arsenite co-treated with Cadmium Chloride co-treated with chromic oxide co-treated with chromous chloride co-treated with lead acetate] results in increased expression of BMP4 mRNA	12634122
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of BMP4 mRNA	30690063
C017133	chromous chloride	[sodium arsenite co-treated with Cadmium Chloride co-treated with chromic oxide co-treated with chromous chloride co-treated with lead acetate] results in increased expression of BMP4 mRNA	12634122
D002945	Cisplatin	Cisplatin results in increased expression of BMP4 mRNA	21674241
C007076	citral	citral results in decreased expression of BMP4 mRNA	15581867
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of BMP4 mRNA	19320972
D003300	Copper	Copper results in decreased expression of BMP4 mRNA	22465980
D016572	Cyclosporine	Cyclosporine results in decreased expression of BMP4 mRNA	25562108; 27989131;
D016572	Cyclosporine	Cyclosporine results in decreased expression of BMP4 mRNA	21865292
D003561	Cytarabine	Cytarabine results in decreased expression of BMP4 mRNA	21198554
D000077209	Decitabine	Decitabine results in increased expression of BMP4 mRNA	27915011
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of BMP4 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in decreased expression of BMP4 mRNA	28453788
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP4 protein results in increased expression of GREM1 mRNA]	15268896
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP4 protein results in increased expression of SOST mRNA]	15268896
D003907	Dexamethasone	Dexamethasone affects the expression of BMP4 mRNA	21277400
D003907	Dexamethasone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of BMP4 mRNA	16054899
D003913	Dextroamphetamine	Dextroamphetamine results in decreased expression of BMP4 mRNA	12205029
D003913	Dextroamphetamine	SOD1 inhibits the reaction [Dextroamphetamine results in decreased expression of BMP4 mRNA]	12205029
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of BMP4 mRNA	19464577; 22027561; 25213187; 26948521; 27079746;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of BMP4 protein	28341571
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of BMP4 mRNA	15829613
D004008	Diclofenac	Diclofenac affects the expression of BMP4 mRNA	24752500
C027118	didecyldimethylammonium	didecyldimethylammonium results in decreased expression of BMP4 mRNA	23537712
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of BMP4 mRNA	22677342
D004147	Dioxins	Dioxins affects the expression of BMP4 mRNA	20463971
C001082	diphenylcresyl phosphate	diphenylcresyl phosphate affects the expression of BMP4 mRNA	25661707
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of BMP4 mRNA	23956100; 29803840;
D004317	Doxorubicin	Doxorubicin affects the expression of BMP4 protein	17415656
D004492	Edetic Acid	[Edetic Acid inhibits the reaction [Calcium binds to MGP protein]] inhibits the reaction [MGP protein binds to BMP4 protein]	18369157
C070609	EMD 53998	EMD 53998 analog results in decreased expression of BMP4 mRNA	24977338
D004726	Endosulfan	Endosulfan results in decreased expression of BMP4 mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BMP4 mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of BMP4 mRNA	14699072; 22574217;
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of BMP4 mRNA	20404318
D004958	Estradiol	Estradiol results in decreased expression of BMP4 mRNA	26921789
D004958	Estradiol	Estradiol results in decreased expression of BMP4 mRNA	23144751
D004958	Estradiol	BMP4 protein inhibits the reaction [IGF1 protein promotes the reaction [FSHB protein results in increased abundance of Estradiol]]	22067323
D004958	Estradiol	[BMP4 protein results in increased expression of CYP19A1 mRNA] promotes the reaction [FSHB protein results in increased abundance of Estradiol]	22067323
D000431	Ethanol	Ethanol results in decreased expression of BMP4 mRNA	28919490
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of BMP4 mRNA	16551644
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of BMP4 mRNA	23129252
D005031	Ethylenethiourea	Ethylenethiourea results in decreased expression of BMP4 mRNA	17161201; 18082712;
D005231	Fatty Acids, Unsaturated	Fatty Acids, Unsaturated results in increased expression of BMP4 mRNA	16571146
D017313	Fenretinide	Fenretinide results in increased expression of BMP4 mRNA	28973697
D005419	Flavonoids	Flavonoids results in increased expression of BMP4 mRNA	18035473
C007738	fluoranthene	[Benzo(a)pyrene co-treated with fluoranthene] results in decreased expression of BMP4 mRNA	25412620
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BMP4 gene	20938992
D005620	Freund's Adjuvant	[Urethane co-treated with Freund's Adjuvant] results in increased expression of BMP4 mRNA	12400877
C039281	furan	furan results in decreased methylation of BMP4 gene	27387713
C039281	furan	furan results in increased expression of BMP4 mRNA	27387713
D019833	Genistein	Genistein results in increased expression of BMP4 mRNA	16169203
D005944	Glucosamine	Glucosamine promotes the reaction [IL1B results in decreased expression of BMP4 mRNA]	17109745
D005944	Glucosamine	Glucosamine results in decreased expression of BMP4 mRNA	17109745
C004312	glycidol	glycidol results in decreased expression of BMP4 mRNA	24915197
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of BMP4 mRNA	12419474
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of BMP4 mRNA	23562911
C056599	icariin	icariin results in increased expression of BMP4 mRNA	18295595
C056599	icariin	icariin results in increased expression of BMP4 mRNA	20019778
D016285	Iloprost	Iloprost inhibits the reaction [BMP4 protein results in increased expression of SMAD6 mRNA]	20522807
D016285	Iloprost	Iloprost promotes the reaction [BMP4 protein results in increased expression of ID1 mRNA]	20522807
D016285	Iloprost	Iloprost promotes the reaction [BMP4 protein results in increased expression of ID1 protein]	20522807
C082359	imidacloprid	imidacloprid results in decreased expression of BMP4 mRNA	27444676; 27792329;
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of BMP4 mRNA	21396975
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BMP4 mRNA	25613284
C544151	jinfukang	jinfukang results in increased expression of BMP4 mRNA	27392435
C410337	K 7174	K 7174 results in decreased expression of BMP4 mRNA	24086573
C006552	kaempferol	kaempferol results in increased expression of BMP4 mRNA	23989061
C008261	lead acetate	[sodium arsenite co-treated with Cadmium Chloride co-treated with chromic oxide co-treated with chromous chloride co-treated with lead acetate] results in increased expression of BMP4 mRNA	12634122
C008261	lead acetate	lead acetate results in decreased expression of BMP4 mRNA	22613225
D008044	Linuron	Linuron results in decreased expression of BMP4 mRNA	12730624
C482199	lipopolysaccharide, E coli O55-B5	Betamethasone inhibits the reaction [lipopolysaccharide, E coli O55-B5 results in decreased expression of BMP4 protein]	22693607
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of BMP4 mRNA	22693607
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of BMP4 protein	22693607
D018021	Lithium Chloride	Lithium Chloride results in increased expression of BMP4 mRNA	15711924
D008344	Maneb	[LRRK2 protein mutant form co-treated with Maneb co-treated with Paraquat] results in decreased expression of BMP4 mRNA	23017109
D008344	Maneb	[SNCA protein co-treated with Maneb co-treated with Paraquat] results in decreased expression of BMP4 mRNA	23017109
C025340	manganese chloride	manganese chloride results in increased expression of BMP4 mRNA	17467022
C042720	mercuric bromide	mercuric bromide results in increased expression of BMP4 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D019216	Metals, Heavy	Metals, Heavy results in increased expression of BMP4 mRNA	12773770
D008694	Methamphetamine	Methamphetamine results in increased expression of BMP4 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BMP4 gene	20938992
D008727	Methotrexate	BMP4 mRNA results in decreased susceptibility to Methotrexate	20008919
D008727	Methotrexate	Methotrexate affects the expression of BMP4 mRNA	18502557
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of BMP4 mRNA	29094188
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BMP4 mRNA	23179753
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of BMP4 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BMP4 mRNA	26011545
D008769	Methylnitronitrosoguanidine	Methylnitronitrosoguanidine results in decreased expression of BMP4 mRNA	12773770
C008493	methylselenic acid	methylselenic acid results in increased expression of BMP4 mRNA	12517777
D016685	Mitomycin	Mitomycin results in decreased expression of BMP4 mRNA	12760830
C000621807	MM-589	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of BMP4 mRNA	31023824
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of BMP4 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of BMP4 mRNA	25554681
C005274	naringin	naringin results in increased expression of BMP4 mRNA	24915843
C029938	nickel sulfate	nickel sulfate results in increased expression of BMP4 mRNA	22714537
D009538	Nicotine	Nicotine results in decreased expression of BMP4 mRNA	20339300
C007350	nitrofen	nitrofen results in decreased expression of BMP4 mRNA	17270562; 18280291;
C025589	ochratoxin A	ochratoxin A results in increased acetylation of BMP4 promoter	29098329
C025589	ochratoxin A	[ochratoxin A results in increased acetylation of BMP4 promoter] which results in increased expression of BMP4 mRNA	29098329; 29098329;
C025589	ochratoxin A	ochratoxin A results in increased expression of BMP4 mRNA	29098329
D015282	Octreotide	Octreotide promotes the reaction [BMP4 protein results in increased expression of ID1 mRNA]	23137853
D009966	Orphenadrine	Orphenadrine affects the expression of BMP4 mRNA	23665939
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of BMP4 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of BMP4 mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of BMP4 mRNA	30529165
D010100	Oxygen	[sulforafan affects the susceptibility to Oxygen] which affects the expression of BMP4 mRNA	30529165
D010126	Ozone	[Ozone co-treated with Chlorine] results in increased expression of BMP4 mRNA	18636392
D017239	Paclitaxel	Paclitaxel results in decreased expression of BMP4 mRNA	23956100
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of BMP4 mRNA	26272509
D010269	Paraquat	[LRRK2 protein mutant form co-treated with Maneb co-treated with Paraquat] results in decreased expression of BMP4 mRNA	23017109
D010269	Paraquat	[SNCA protein co-treated with Maneb co-treated with Paraquat] results in decreased expression of BMP4 mRNA	23017109
D010269	Paraquat	Paraquat results in decreased expression of BMP4 mRNA	18198484
C084656	paricalcitol	[Phosphorus co-treated with paricalcitol] results in increased expression of BMP4 mRNA	17715259
D052638	Particulate Matter	Particulate Matter results in decreased expression of BMP4 mRNA	23085030
C517782	pasireotide	pasireotide promotes the reaction [BMP4 protein results in increased expression of ID1 mRNA]	23137853
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of BMP4 mRNA	24642059
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in increased expression of BMP4 mRNA	23562911
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of BMP4 mRNA	26272509
D010672	Phenytoin	Phenytoin results in increased expression of BMP4 mRNA	16141649
D010758	Phosphorus	[Phosphorus co-treated with paricalcitol] results in increased expression of BMP4 mRNA	17715259
D010862	Pilocarpine	Pilocarpine results in decreased expression of BMP4 mRNA	17971868
D010862	Pilocarpine	Pilocarpine results in increased expression of BMP4 mRNA	17971868
C049032	pinosylvin	[pinosylvin affects the localization of and results in decreased activity of CTNNB1 protein] which results in decreased expression of BMP4 mRNA	23333577
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BMP4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BMP4 mRNA	22079256
C045362	prochloraz	prochloraz results in decreased expression of BMP4 mRNA	21470553
D011374	Progesterone	BMP4 protein results in decreased abundance of Progesterone	21072679
D011374	Progesterone	BMP4 protein inhibits the reaction [FSHB protein results in increased secretion of Progesterone]	15591037
D011374	Progesterone	BMP4 protein results in decreased secretion of Progesterone	15591037
D011374	Progesterone	[BMP4 protein results in decreased expression of STAR mRNA] inhibits the reaction [FSHB protein results in increased abundance of Progesterone]	22067323
D011374	Progesterone	GH1 protein inhibits the reaction [BMP4 protein inhibits the reaction [FSHB protein results in increased abundance of Progesterone]]	22067323
D011374	Progesterone	IGF1 protein inhibits the reaction [BMP4 protein inhibits the reaction [FSHB protein results in increased abundance of Progesterone]]	22067323
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of BMP4 mRNA	23274088
C586999	PTC-209	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of BMP4 mRNA	31023824
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of BMP4 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of BMP4 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in increased expression of BMP4 mRNA	25888808
D000077185	Resveratrol	Resveratrol inhibits the reaction [BMP4 protein results in increased expression of VEGFA mRNA]	24435444
D000077185	Resveratrol	Resveratrol inhibits the reaction [BMP4 protein results in increased secretion of VEGFA protein]	24435444
C009166	retinol acetate	retinol acetate results in increased expression of BMP4 mRNA	16772331
D012293	Rifampin	[Rifampin co-treated with NR1I2 protein] results in increased expression of BMP4 mRNA	21127053
D000077154	Rosiglitazone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of BMP4 mRNA	16054899
D012402	Rotenone	Rotenone results in decreased expression of BMP4 mRNA	29955902
C101044	RTKI cpd	RTKI cpd inhibits the reaction [antimonite results in decreased expression of BMP4 mRNA]	17400267
C101044	RTKI cpd	RTKI cpd inhibits the reaction [arsenite results in decreased expression of BMP4 mRNA]	17400267
C025759	saikosaponin	saikosaponin inhibits the reaction [BMP4 protein results in increased expression of ACTA2 protein]	23969230
C025759	saikosaponin	saikosaponin results in decreased expression of BMP4 mRNA	23969230
C025759	saikosaponin	saikosaponin results in decreased expression of BMP4 protein	23969230
D012715	Sesame Oil	Sesame Oil results in decreased expression of BMP4 mRNA	29191790
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BMP4 mRNA	25895662
D012834	Silver	Silver results in decreased expression of BMP4 mRNA	26014281
D012834	Silver	Silver results in increased expression of BMP4 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in decreased expression of BMP4 mRNA	29361514
C017947	sodium arsenite	[sodium arsenite co-treated with Cadmium Chloride co-treated with chromic oxide co-treated with chromous chloride co-treated with lead acetate] results in increased expression of BMP4 mRNA	12634122
C017947	sodium arsenite	sodium arsenite results in decreased expression of BMP4 mRNA	19615344
C017947	sodium arsenite	sodium arsenite results in increased expression of BMP4 mRNA	12634122; 12760830; 22714537;
C017947	sodium arsenite	sodium arsenite results in increased expression of BMP4 mRNA	16014739
C016104	sodium bichromate	sodium bichromate results in decreased expression of BMP4 mRNA	12760830
C032706	sodium chlorate	sodium chlorate results in decreased expression of BMP4 mRNA	12922982
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of BMP4 mRNA	24383545
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of BMP4 mRNA	23274088
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of BMP4 mRNA	23274088
C525422	SRT1720	SRT1720 inhibits the reaction [BMP4 protein results in increased expression of VEGFA mRNA]	24435444
C525422	SRT1720	SRT1720 inhibits the reaction [BMP4 protein results in increased secretion of VEGFA protein]	24435444
C105686	SU 5402	SU 5402 results in increased expression of BMP4 mRNA	12421715
C016766	sulforafan	[sulforafan affects the susceptibility to Oxygen] which affects the expression of BMP4 mRNA	30529165
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of BMP4 mRNA	12419474
D013739	Testosterone	Testosterone affects the expression of BMP4 mRNA	20403060
D013739	Testosterone	Testosterone results in decreased expression of BMP4 mRNA	22138414
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of BMP4 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the localization of BMP4 protein	18477685
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BMP4 mRNA	30398377
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BMP4 mRNA	19684285
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BMP4 mRNA	19684285; 20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BMP4 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with EGF protein] results in increased expression of BMP4 mRNA	16054899
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BMP4 mRNA	18691609; 19770486; 19933214; 26290441;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased secretion of BMP4 protein	26572662
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BMP4 mRNA	16054899; 17586704;
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BMP4 mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of BMP4 mRNA	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of BMP4 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of BMP4 mRNA	28111298
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of BMP4 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of BMP4 mRNA	25729387
D014212	Tretinoin	[Tretinoin co-treated with BMP4 protein] results in increased expression of KRT18 protein	30397335
D014212	Tretinoin	[Tretinoin co-treated with BMP4 protein] results in increased expression of TP63 protein	30397335
D014212	Tretinoin	Tretinoin promotes the reaction [BMP4 protein results in increased expression of SOST mRNA]	15268896
D014212	Tretinoin	Tretinoin results in increased expression of BMP4 mRNA	17196394
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of BMP4 mRNA	30951980
D014212	Tretinoin	Tretinoin affects the expression of BMP4	10862743
D014212	Tretinoin	Tretinoin results in decreased activity of BMP4 protein	16818722
D014212	Tretinoin	Tretinoin results in decreased expression of BMP4 mRNA	15996115; 16604517;
D014212	Tretinoin	Tretinoin results in increased expression of BMP4 mRNA	16195406; 18703560;
D014212	Tretinoin	Tretinoin results in increased expression of BMP4 protein	16195406
C011559	tributyltin	tributyltin results in increased expression of BMP4 mRNA	27614199
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of BMP4 mRNA	24935251; 26272509;
C012589	trichostatin A	trichostatin A results in increased expression of BMP4 mRNA	23562654
C005445	triphenyl phosphate	triphenyl phosphate results in decreased expression of BMP4 mRNA	25661707
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of BMP4 mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of BMP4 mRNA	28818685
D014520	Urethane	[Urethane co-treated with Freund's Adjuvant] results in increased expression of BMP4 mRNA	12400877
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of BMP4 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of BMP4 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of BMP4 mRNA	19136453
D014635	Valproic Acid	Valproic Acid results in increased expression of BMP4 mRNA	23562654; 29427782;
D000068756	Valsartan	Valsartan inhibits the reaction [AGT protein results in decreased expression of BMP4 mRNA]	19225232
C025643	vinclozolin	vinclozolin affects the expression of BMP4 mRNA	19015723
D014800	Vitallium	Vitallium analog results in decreased expression of BMP4 mRNA	23825117
D014801	Vitamin A	Vitamin A results in increased expression of BMP4 mRNA	16571146
D014801	Vitamin A	Vitamin A affects the expression of BMP4 mRNA	16120438
D014810	Vitamin E	Vitamin E results in increased expression of BMP4 mRNA	19244175
D000077337	Vorinostat	Vorinostat results in increased expression of BMP4 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0891	Chondrogenesis
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1013	Microphthalmia
KW-0892	Osteogenesis
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: BMP4

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction