CleftGeneDB-Search

Gene: GRHL3

Basic information

Tag	Content
Uniprot ID	Q8TE85; A2A297; B2RCL1; G3XAF0; Q5TH78; Q86Y06; Q8N407;
Entrez ID	57822
Genbank protein ID	EAW95121.1; BAB85067.1; AAO67370.1; AAH36890.1; BAG37608.1;
Genbank nucleotide ID	NM_198173.2; NM_021180.3; NM_198174.2; XM_011541870.2; NM_001195010.1; XM_011541869.1;
Ensembl protein ID	ENSP00000354943; ENSP00000348333; ENSP00000288955; ENSP00000236255;
Ensembl nucleotide ID	ENSG00000158055
Gene name	Grainyhead-like protein 3 homolog
Gene symbol	GRHL3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).
Sequence	MSNELDFRSV RLLKNDPVNL QKFSYTSEDE AWKTYLENPL TAATKAMMRV NGDDDSVAAL 60 SFLYDYYMGP KEKRILSSST GGRNDQGKRY YHGMEYETDL TPLESPTHLM KFLTENVSGT 120 PEYPDLLKKN NLMSLEGALP TPGKAAPLPA GPSKLEAGSV DSYLLPTTDM YDNGSLNSLF 180 ESIHGVPPTQ RWQPDSTFKD DPQESMLFPD ILKTSPEPPC PEDYPSLKSD FEYTLGSPKA 240 IHIKSGESPM AYLNKGQFYP VTLRTPAGGK GLALSSNKVK SVVMVVFDNE KVPVEQLRFW 300 KHWHSRQPTA KQRVIDVADC KENFNTVEHI EEVAYNALSF VWNVNEEAKV FIGVNCLSTD 360 FSSQKGVKGV PLNLQIDTYD CGLGTERLVH RAVCQIKIFC DKGAERKMRD DERKQFRRKV 420 KCPDSSNSGV KGCLLSGFRG NETTYLRPET DLETPPVLFI PNVHFSSLQR SGGAAPSAGP 480 SSSNRLPLKR TCSPFTEEFE PLPSKQAKEG DLQRVLLYVR RETEEVFDAL MLKTPDLKGL 540 RNAISEKYGF PEENIYKVYK KCKRGETSLL HPRLSRHPPP DCLECSHPVT QVRNMGFGDG 600 FWRQRDLDSN PSPTTVNSLH FTVNSE 626

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	Species	Evidence	Details
1:1 ortholog	GRHL3	102178225	A0A452F7N1		Capra hircus	Prediction	More>>
1:1 ortholog	GRHL3	57822	Q8TE85		Homo sapiens	Prediction	More>>
1:1 ortholog	Grhl3	230824	Q5FWH3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GRHL3	456630	H2RDV8		Pan troglodytes	Prediction	More>>
1:1 ortholog	GRHL3		A0A287B8R5		Sus scrofa	Prediction	More>>
1:1 ortholog	GRHL3	100356381	G1T595		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Grhl3	298555	D4A1E5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	grhl3		E7F6C3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs774176798	p.Ser2Trp	missense variant	-	NC_000001.11:g.24319556C>G	ExAC,gnomAD
rs771930393	p.Leu5Phe	missense variant	-	NC_000001.11:g.24319564C>T	ExAC,gnomAD
rs1366036460	p.Asp6Gly	missense variant	-	NC_000001.11:g.24319568A>G	gnomAD
rs1018324786	p.Arg8Ser	missense variant	-	NC_000001.11:g.24331432G>T	TOPMed
rs372113854	p.Arg8Lys	missense variant	-	NC_000001.11:g.24331431G>A	ESP,ExAC,TOPMed,gnomAD
rs752023859	p.Val10Met	missense variant	-	NC_000001.11:g.24331436G>A	ExAC,gnomAD
rs202164828	p.Arg11Trp	missense variant	-	NC_000001.11:g.24331439C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs142248927	p.Arg11Gln	missense variant	-	NC_000001.11:g.24331440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys14Asn	missense variant	-	NC_000001.11:g.24331450G>T	NCI-TCGA
rs753938538	p.Asp16Asn	missense variant	-	NC_000001.11:g.24331454G>A	ExAC,TOPMed,gnomAD
rs562846657	p.Pro17Leu	missense variant	-	NC_000001.11:g.24331458C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro17SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.24331456_24331457CC>-	NCI-TCGA
rs779698988	p.Val18Ile	missense variant	-	NC_000001.11:g.24331460G>A	ExAC,gnomAD
rs746854063	p.Phe23Val	missense variant	-	NC_000001.11:g.24331475T>G	ExAC,gnomAD
rs768472056	p.Phe23Tyr	missense variant	-	NC_000001.11:g.24331476T>A	ExAC,gnomAD
rs1292452067	p.Phe23Leu	missense variant	-	NC_000001.11:g.24331477C>A	TOPMed
rs1479877554	p.Ser24Cys	missense variant	-	NC_000001.11:g.24331479C>G	gnomAD
rs922269013	p.Tyr25His	missense variant	-	NC_000001.11:g.24331481T>C	TOPMed
rs781059697	p.Thr26Ala	missense variant	-	NC_000001.11:g.24331484A>G	ExAC,gnomAD
rs1450981573	p.Trp32Ser	missense variant	-	NC_000001.11:g.24331503G>C	gnomAD
rs149583743	p.Thr34Met	missense variant	-	NC_000001.11:g.24331509C>T	ESP,ExAC,TOPMed,gnomAD
rs138155321	p.Thr34Ala	missense variant	-	NC_000001.11:g.24331508A>G	ESP,ExAC,TOPMed,gnomAD
rs1247351011	p.Tyr35Cys	missense variant	-	NC_000001.11:g.24331512A>G	TOPMed,gnomAD
rs1472254639	p.Glu37Ter	stop gained	-	NC_000001.11:g.24331517G>T	TOPMed
rs1334115448	p.Asn38Lys	missense variant	-	NC_000001.11:g.24331522C>G	gnomAD
rs774828784	p.Asn38Thr	missense variant	-	NC_000001.11:g.24331521A>C	ExAC,gnomAD
rs759937117	p.Pro39Leu	missense variant	-	NC_000001.11:g.24331524C>T	ExAC,TOPMed,gnomAD
rs759937117	p.Pro39Gln	missense variant	-	NC_000001.11:g.24331524C>A	ExAC,TOPMed,gnomAD
rs1351260163	p.Leu40Phe	missense variant	-	NC_000001.11:g.24331528G>C	TOPMed,gnomAD
rs776078194	p.Thr41Ile	missense variant	-	NC_000001.11:g.24331530C>T	ExAC,TOPMed,gnomAD
rs1289250679	p.Ala42Thr	missense variant	-	NC_000001.11:g.24331532G>A	gnomAD
rs761264511	p.Thr44Ile	missense variant	-	NC_000001.11:g.24331539C>T	ExAC,TOPMed,gnomAD
rs764076634	p.Ala46Pro	missense variant	-	NC_000001.11:g.24331544G>C	ExAC,TOPMed,gnomAD
rs764076634	p.Ala46Ser	missense variant	-	NC_000001.11:g.24331544G>T	ExAC,TOPMed,gnomAD
rs754006408	p.Met47Thr	missense variant	-	NC_000001.11:g.24331548T>C	ExAC,TOPMed,gnomAD
rs757398629	p.Val50Ile	missense variant	-	NC_000001.11:g.24331556G>A	ExAC,TOPMed,gnomAD
rs369794868	p.Asn51Ser	missense variant	-	NC_000001.11:g.24331560A>G	ESP,ExAC,TOPMed,gnomAD
rs369794868	p.Asn51Thr	missense variant	-	NC_000001.11:g.24331560A>C	ESP,ExAC,TOPMed,gnomAD
rs754709945	p.Asp53Glu	missense variant	-	NC_000001.11:g.24331567T>A	ExAC,TOPMed,gnomAD
rs780971661	p.Asp54Glu	missense variant	-	NC_000001.11:g.24331570T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp55Asn	missense variant	-	NC_000001.11:g.24331571G>A	NCI-TCGA
rs2486668	p.Asp55Glu	missense variant	-	NC_000001.11:g.24331573C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777127826	p.Ser56Arg	missense variant	-	NC_000001.11:g.24331576T>G	ExAC,gnomAD
rs748873243	p.Ala58Val	missense variant	-	NC_000001.11:g.24331581C>T	ExAC,gnomAD
rs748873243	p.Ala58Glu	missense variant	-	NC_000001.11:g.24331581C>A	ExAC,gnomAD
rs774094467	p.Ala59Gly	missense variant	-	NC_000001.11:g.24331584C>G	ExAC,gnomAD
rs745525353	p.Ser61Arg	missense variant	-	NC_000001.11:g.24331591C>A	ExAC,gnomAD
rs772495652	p.Phe62Leu	missense variant	-	NC_000001.11:g.24331592T>C	ExAC,gnomAD
rs776061672	p.Tyr64Cys	missense variant	-	NC_000001.11:g.24331599A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr66Asn	missense variant	-	NC_000001.11:g.24331604T>A	NCI-TCGA
rs761071774	p.Tyr66Cys	missense variant	-	NC_000001.11:g.24331605A>G	ExAC,gnomAD
rs764709319	p.Met68Val	missense variant	-	NC_000001.11:g.24331610A>G	ExAC,TOPMed,gnomAD
COSM3400566	p.Gly69Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24334645G>T	NCI-TCGA Cosmic
rs186239168	p.Pro70Ser	missense variant	-	NC_000001.11:g.24334648C>T	1000Genomes,ExAC,gnomAD
rs186239168	p.Pro70Thr	missense variant	-	NC_000001.11:g.24334648C>A	1000Genomes,ExAC,gnomAD
COSM1584342	p.Glu72Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24334656G>T	NCI-TCGA Cosmic
rs370545374	p.Arg74Trp	missense variant	-	NC_000001.11:g.24334660C>T	ESP,ExAC,TOPMed,gnomAD
rs534391501	p.Arg74Gln	missense variant	-	NC_000001.11:g.24334661G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1314224679	p.Ile75Leu	missense variant	-	NC_000001.11:g.24334663A>T	TOPMed
NCI-TCGA novel	p.Ile75Val	missense variant	-	NC_000001.11:g.24334663A>G	NCI-TCGA
rs1322413381	p.Leu76Phe	missense variant	-	NC_000001.11:g.24334668G>T	TOPMed
rs1247079986	p.Ser77Pro	missense variant	-	NC_000001.11:g.24334669T>C	TOPMed
NCI-TCGA novel	p.Ser77Tyr	missense variant	-	NC_000001.11:g.24334670C>A	NCI-TCGA
rs751765229	p.Ser77Phe	missense variant	-	NC_000001.11:g.24334670C>T	ExAC,gnomAD
rs1304511763	p.Gly82Asp	missense variant	-	NC_000001.11:g.24334685G>A	gnomAD
NCI-TCGA novel	p.Asp85AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.24334694A>-	NCI-TCGA
rs373650845	p.Gln86Lys	missense variant	-	NC_000001.11:g.24334696C>A	ESP,ExAC,gnomAD
rs373650845	p.Gln86Glu	missense variant	-	NC_000001.11:g.24334696C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys88Asn	missense variant	-	NC_000001.11:g.24334704G>T	NCI-TCGA
rs987079452	p.Arg89Gly	missense variant	-	NC_000001.11:g.24334705A>G	TOPMed
rs1282808266	p.Tyr90Asn	missense variant	-	NC_000001.11:g.24336483T>A	gnomAD
rs1217826782	p.Tyr91His	missense variant	-	NC_000001.11:g.24336486T>C	gnomAD
rs1288520206	p.His92Pro	missense variant	-	NC_000001.11:g.24336490A>C	TOPMed,gnomAD
rs1288520206	p.His92Arg	missense variant	-	NC_000001.11:g.24336490A>G	TOPMed,gnomAD
rs372619643	p.Gly93Cys	missense variant	-	NC_000001.11:g.24336492G>T	ESP,ExAC,gnomAD
rs960596554	p.Met94Val	missense variant	-	NC_000001.11:g.24336495A>G	TOPMed
rs750417670	p.Tyr96His	missense variant	-	NC_000001.11:g.24336501T>C	ExAC,TOPMed,gnomAD
rs750417670	p.Tyr96Asp	missense variant	-	NC_000001.11:g.24336501T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu97Gln	missense variant	-	NC_000001.11:g.24336504G>C	NCI-TCGA
rs779435159	p.Thr98Ala	missense variant	-	NC_000001.11:g.24336507A>G	ExAC,gnomAD
rs372226155	p.Thr98Met	missense variant	-	NC_000001.11:g.24336508C>T	1000Genomes,ESP,ExAC,gnomAD
rs781600093	p.Leu100Phe	missense variant	-	NC_000001.11:g.24336513C>T	ExAC,gnomAD
rs139478329	p.Thr101Ile	missense variant	-	NC_000001.11:g.24336517C>T	ESP,ExAC,TOPMed,gnomAD
COSM679568	p.Pro102Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336519C>A	NCI-TCGA Cosmic
rs1159028728	p.Leu103Phe	missense variant	-	NC_000001.11:g.24336522C>T	gnomAD
NCI-TCGA novel	p.Leu103Ile	missense variant	-	NC_000001.11:g.24336522C>A	NCI-TCGA
NCI-TCGA novel	p.Leu103Arg	missense variant	-	NC_000001.11:g.24336523T>G	NCI-TCGA
rs756505220	p.Ser105Asn	missense variant	-	NC_000001.11:g.24336529G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro106Leu	missense variant	-	NC_000001.11:g.24336532C>T	NCI-TCGA
rs778208867	p.Pro106His	missense variant	-	NC_000001.11:g.24336532C>A	ExAC,gnomAD
rs1436653299	p.Thr107Ala	missense variant	-	NC_000001.11:g.24336534A>G	TOPMed
rs929115407	p.His108Gln	missense variant	-	NC_000001.11:g.24336539C>A	gnomAD
rs1483524217	p.Leu109Phe	missense variant	-	NC_000001.11:g.24336540C>T	gnomAD
rs146706821	p.Phe112Ser	missense variant	-	NC_000001.11:g.24336550T>C	ESP
rs774357267	p.Thr114Ala	missense variant	-	NC_000001.11:g.24336555A>G	ExAC,gnomAD
COSM1584341	p.Glu115Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336560G>T	NCI-TCGA Cosmic
rs186914295	p.Val117Leu	missense variant	-	NC_000001.11:g.24336564G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs186914295	p.Val117Met	missense variant	-	NC_000001.11:g.24336564G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761658802	p.Ser118Thr	missense variant	-	NC_000001.11:g.24336567T>A	ExAC,gnomAD
rs765145591	p.Gly119Ala	missense variant	-	NC_000001.11:g.24336571G>C	ExAC,TOPMed,gnomAD
rs1290894366	p.Tyr123His	missense variant	-	NC_000001.11:g.24336582T>C	gnomAD
rs773225729	p.Pro124Leu	missense variant	-	NC_000001.11:g.24336586C>T	ExAC,gnomAD
rs1202538444	p.Asp125His	missense variant	-	NC_000001.11:g.24336588G>C	gnomAD
NCI-TCGA novel	p.Asp125Tyr	missense variant	-	NC_000001.11:g.24336588G>T	NCI-TCGA
NCI-TCGA novel	p.Leu127Pro	missense variant	-	NC_000001.11:g.24336595T>C	NCI-TCGA
rs1487812655	p.Lys128Glu	missense variant	-	NC_000001.11:g.24336597A>G	TOPMed,gnomAD
rs376281609	p.Glu136Lys	missense variant	-	NC_000001.11:g.24336621G>A	ESP,ExAC,TOPMed,gnomAD
rs751080248	p.Gly137Val	missense variant	-	NC_000001.11:g.24336625G>T	ExAC,gnomAD
rs1382071647	p.Gly137Trp	missense variant	-	NC_000001.11:g.24336624G>T	gnomAD
rs147738765	p.Ala138Val	missense variant	-	NC_000001.11:g.24336628C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala138Gly	missense variant	-	NC_000001.11:g.24336628C>G	NCI-TCGA
NCI-TCGA novel	p.Ala138GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.24336621_24336622insA	NCI-TCGA
rs939598160	p.Ala138Pro	missense variant	-	NC_000001.11:g.24336627G>C	TOPMed
rs369259121	p.Pro140Ser	missense variant	-	NC_000001.11:g.24336633C>T	ESP,ExAC,TOPMed,gnomAD
rs994104716	p.Pro142Arg	missense variant	-	NC_000001.11:g.24336640C>G	TOPMed
rs148080626	p.Gly143Ser	missense variant	-	NC_000001.11:g.24336642G>A	ESP,TOPMed
rs756415680	p.Ala145Thr	missense variant	-	NC_000001.11:g.24336648G>A	ExAC,gnomAD
rs1446860434	p.Ala146Pro	missense variant	-	NC_000001.11:g.24336651G>C	TOPMed,gnomAD
rs778111145	p.Pro147Ser	missense variant	-	NC_000001.11:g.24336654C>T	ExAC,gnomAD
rs778111145	p.Pro147Ala	missense variant	-	NC_000001.11:g.24336654C>G	ExAC,gnomAD
COSM3486487	p.Pro147Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336655C>T	NCI-TCGA Cosmic
rs140960821	p.Pro149Ser	missense variant	-	NC_000001.11:g.24336660C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245724588	p.Ala150Val	missense variant	-	NC_000001.11:g.24336664C>T	gnomAD
COSM679567	p.Gly151Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336666G>T	NCI-TCGA Cosmic
rs1213099454	p.Leu155Val	missense variant	-	NC_000001.11:g.24336678C>G	gnomAD
rs371889064	p.Gly158Cys	missense variant	-	NC_000001.11:g.24336687G>T	ESP,ExAC,TOPMed,gnomAD
rs371889064	p.Gly158Ser	missense variant	-	NC_000001.11:g.24336687G>A	ESP,ExAC,TOPMed,gnomAD
rs34637004	p.Val160Ala	missense variant	-	NC_000001.11:g.24336694T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000542635	p.Val160Ala	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24336694T>C	ClinVar
rs1459881262	p.Asp161Tyr	missense variant	-	NC_000001.11:g.24336696G>T	gnomAD
rs1397299503	p.Ser162Thr	missense variant	-	NC_000001.11:g.24336700G>C	TOPMed
NCI-TCGA novel	p.Ser162Asn	missense variant	-	NC_000001.11:g.24336700G>A	NCI-TCGA
rs1186587606	p.Tyr163Asp	missense variant	-	NC_000001.11:g.24336702T>G	TOPMed,gnomAD
rs1186587606	p.Tyr163His	missense variant	-	NC_000001.11:g.24336702T>C	TOPMed,gnomAD
COSM2149733	p.Pro166Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336712C>T	NCI-TCGA Cosmic
rs1473650305	p.Thr167Ile	missense variant	-	NC_000001.11:g.24336715C>T	TOPMed,gnomAD
rs762962991	p.Thr167Pro	missense variant	-	NC_000001.11:g.24336714A>C	ExAC,gnomAD
rs1473650305	p.Thr167Asn	missense variant	-	NC_000001.11:g.24336715C>A	TOPMed,gnomAD
rs1297265972	p.Thr168Ala	missense variant	-	NC_000001.11:g.24336717A>G	TOPMed
rs758924862	p.Met170Ile	missense variant	-	NC_000001.11:g.24336725G>A	ExAC,gnomAD
rs774380464	p.Met170Thr	missense variant	-	NC_000001.11:g.24336724T>C	ExAC,TOPMed,gnomAD
rs752284034	p.Asp172Glu	missense variant	-	NC_000001.11:g.24336731T>A	ExAC,gnomAD
rs755826508	p.Gly174Val	missense variant	-	NC_000001.11:g.24336736G>T	ExAC,TOPMed,gnomAD
rs1269872006	p.Leu176Pro	missense variant	-	NC_000001.11:g.24336742T>C	gnomAD
rs1241614486	p.Ser178Phe	missense variant	-	NC_000001.11:g.24336748C>T	TOPMed
rs368857465	p.Leu179Met	missense variant	-	NC_000001.11:g.24336750T>A	ESP,ExAC,TOPMed,gnomAD
rs757749100	p.Phe180Leu	missense variant	-	NC_000001.11:g.24336755T>G	ExAC,TOPMed,gnomAD
rs373482025	p.Phe180Leu	missense variant	-	NC_000001.11:g.24336753T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu181Lys	missense variant	-	NC_000001.11:g.24336756G>A	NCI-TCGA
rs1322914051	p.Ser182Asn	missense variant	-	NC_000001.11:g.24336760G>A	TOPMed,gnomAD
rs1256749784	p.Ile183Val	missense variant	-	NC_000001.11:g.24336762A>G	gnomAD
rs1166068949	p.His184Asp	missense variant	-	NC_000001.11:g.24336765C>G	TOPMed
rs116674530	p.Pro187Leu	missense variant	-	NC_000001.11:g.24336775C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1195215607	p.Pro188Ala	missense variant	-	NC_000001.11:g.24336777C>G	TOPMed,gnomAD
rs1426674885	p.Thr189Ala	missense variant	-	NC_000001.11:g.24336780A>G	gnomAD
rs150060454	p.Arg191His	missense variant	-	NC_000001.11:g.24336787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200674358	p.Arg191Cys	missense variant	-	NC_000001.11:g.24336786C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1404941388	p.Pro194Ser	missense variant	-	NC_000001.11:g.24336795C>T	TOPMed,gnomAD
rs777682242	p.Lys199Glu	missense variant	-	NC_000001.11:g.24336810A>G	ExAC,TOPMed,gnomAD
rs770785729	p.Gln203Arg	missense variant	-	NC_000001.11:g.24336823A>G	ExAC,gnomAD
rs201073516	p.Ser205Leu	missense variant	-	NC_000001.11:g.24337079C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439857250	p.Leu207Pro	missense variant	-	NC_000001.11:g.24337085T>C	TOPMed
rs776206679	p.Leu207Phe	missense variant	-	NC_000001.11:g.24337084C>T	ExAC,gnomAD
rs1474236293	p.Ser215Phe	missense variant	-	NC_000001.11:g.24337109C>T	TOPMed
rs1396323794	p.Ser215Ala	missense variant	-	NC_000001.11:g.24337108T>G	TOPMed
rs141633634	p.Pro216Ser	missense variant	-	NC_000001.11:g.24337111C>T	ESP,ExAC,TOPMed,gnomAD
rs149044763	p.Pro216Arg	missense variant	-	NC_000001.11:g.24337112C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs149044763	p.Pro216Leu	missense variant	-	NC_000001.11:g.24337112C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu217Gly	missense variant	-	NC_000001.11:g.24337115A>G	NCI-TCGA
rs767713621	p.Pro218Thr	missense variant	-	NC_000001.11:g.24337117C>A	ExAC,gnomAD
rs1320885412	p.Pro218Leu	missense variant	-	NC_000001.11:g.24337118C>T	gnomAD
rs752861672	p.Pro219Ala	missense variant	-	NC_000001.11:g.24337120C>G	ExAC,TOPMed,gnomAD
rs752861672	p.Pro219Ser	missense variant	-	NC_000001.11:g.24337120C>T	ExAC,TOPMed,gnomAD
rs370153007	p.Cys220Tyr	missense variant	-	NC_000001.11:g.24337124G>A	ESP,ExAC,TOPMed,gnomAD
rs1197416225	p.Pro221Ser	missense variant	-	NC_000001.11:g.24337126C>T	gnomAD
rs745712974	p.Pro221Arg	missense variant	-	NC_000001.11:g.24337127C>G	ExAC
rs1239346761	p.Asp223Gly	missense variant	-	NC_000001.11:g.24337133A>G	gnomAD
NCI-TCGA novel	p.Asp223Asn	missense variant	-	NC_000001.11:g.24337132G>A	NCI-TCGA
rs758217836	p.Tyr224Cys	missense variant	-	NC_000001.11:g.24337136A>G	ExAC,gnomAD
rs758217836	p.Tyr224Ser	missense variant	-	NC_000001.11:g.24337136A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser226AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.24337137C>-	NCI-TCGA
COSM425844	p.Glu232Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337643G>C	NCI-TCGA Cosmic
rs760190846	p.Tyr233Cys	missense variant	-	NC_000001.11:g.24337647A>G	ExAC,gnomAD
rs1489259284	p.Leu235Val	missense variant	-	NC_000001.11:g.24337652C>G	gnomAD
rs1425944925	p.Gly236Ser	missense variant	-	NC_000001.11:g.24337655G>A	gnomAD
rs372569349	p.Pro238Ser	missense variant	-	NC_000001.11:g.24337661C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys239GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.24337658_24337659insC	NCI-TCGA
rs756255609	p.Lys239Arg	missense variant	-	NC_000001.11:g.24337665A>G	ExAC,TOPMed,gnomAD
rs1466382514	p.Ala240Val	missense variant	-	NC_000001.11:g.24337668C>T	gnomAD
NCI-TCGA novel	p.Lys244Glu	missense variant	-	NC_000001.11:g.24337679A>G	NCI-TCGA
rs764334396	p.Gly246Ser	missense variant	-	NC_000001.11:g.24337685G>A	ExAC,gnomAD
rs1399079412	p.Glu247Lys	missense variant	-	NC_000001.11:g.24337688G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala251Ser	missense variant	-	NC_000001.11:g.24337700G>T	NCI-TCGA
rs150142672	p.Ala251Val	missense variant	-	NC_000001.11:g.24337701C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1301221523	p.Gly256Arg	missense variant	-	NC_000001.11:g.24337715G>C	gnomAD
rs1313246902	p.Gln257Leu	missense variant	-	NC_000001.11:g.24337719A>T	gnomAD
rs145470039	p.Val261Ile	missense variant	-	NC_000001.11:g.24337730G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184435420	p.Arg264Gln	missense variant	-	NC_000001.11:g.24337740G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs151096181	p.Arg264Trp	missense variant	-	NC_000001.11:g.24337739C>T	ESP,ExAC,TOPMed,gnomAD
rs769211444	p.Thr265Ala	missense variant	-	NC_000001.11:g.24337742A>G	ExAC,TOPMed,gnomAD
rs769211444	p.Thr265Ser	missense variant	-	NC_000001.11:g.24337742A>T	ExAC,TOPMed,gnomAD
COSM6125502	p.Thr265Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337743C>T	NCI-TCGA Cosmic
rs34593559	p.Ala267Gly	missense variant	-	NC_000001.11:g.24337749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374225670	p.Gly268Arg	missense variant	-	NC_000001.11:g.24337751G>C	ESP,ExAC,TOPMed,gnomAD
rs994387043	p.Gly269Asp	missense variant	-	NC_000001.11:g.24337755G>A	TOPMed
rs1467098111	p.Gly269Ser	missense variant	-	NC_000001.11:g.24337754G>A	TOPMed
rs1253708416	p.Gly271Ala	missense variant	-	NC_000001.11:g.24337761G>C	TOPMed
NCI-TCGA novel	p.Ala273Ser	missense variant	-	NC_000001.11:g.24337766G>T	NCI-TCGA
rs1025419660	p.Ser275Pro	missense variant	-	NC_000001.11:g.24337772T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser276Tyr	missense variant	-	NC_000001.11:g.24337776C>A	NCI-TCGA
rs1401170359	p.Lys280Gln	missense variant	-	NC_000001.11:g.24337787A>C	gnomAD
rs761092331	p.Ser281Arg	missense variant	-	NC_000001.11:g.24337994T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser281Arg	missense variant	-	NC_000001.11:g.24337992A>C	NCI-TCGA
COSM4030441	p.Val282Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337995G>A	NCI-TCGA Cosmic
rs1350012945	p.Val283Met	missense variant	-	NC_000001.11:g.24337998G>A	gnomAD
rs1437948974	p.Val285Ile	missense variant	-	NC_000001.11:g.24338004G>A	gnomAD
rs141594535	p.Asp288His	missense variant	-	NC_000001.11:g.24338013G>C	ESP,ExAC,TOPMed,gnomAD
rs141594535	p.Asp288Asn	missense variant	-	NC_000001.11:g.24338013G>A	ESP,ExAC,TOPMed,gnomAD
rs762000715	p.Asn289Ser	missense variant	-	NC_000001.11:g.24338017A>G	ExAC,gnomAD
rs1447998434	p.Val292Phe	missense variant	-	NC_000001.11:g.24338025G>T	gnomAD
rs750665556	p.Val294Ile	missense variant	-	NC_000001.11:g.24338031G>A	ExAC,gnomAD
rs1257067361	p.Glu295Lys	missense variant	-	NC_000001.11:g.24338034G>A	gnomAD
rs759267741	p.Leu297Val	missense variant	-	NC_000001.11:g.24338040C>G	ExAC,gnomAD
RCV000087751	p.Arg298His	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24338044G>A	ClinVar
rs767218256	p.Arg298Cys	missense variant	-	NC_000001.11:g.24338043C>T	ExAC,TOPMed,gnomAD
rs752673677	p.Arg298His	missense variant	Van der woude syndrome 2 (vws2)	NC_000001.11:g.24338044G>A	ExAC,TOPMed,gnomAD
rs1553172687	p.Trp300Ter	stop gained	-	NC_000001.11:g.24338050G>A	-
RCV000548428	p.Trp300Ter	nonsense	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24338050G>A	ClinVar
rs1457221205	p.Trp303Ter	stop gained	-	NC_000001.11:g.24338060G>A	gnomAD
rs753443097	p.His304Arg	missense variant	-	NC_000001.11:g.24338062A>G	ExAC,TOPMed,gnomAD
rs778662501	p.Arg306Leu	missense variant	-	NC_000001.11:g.24338068G>T	ExAC,TOPMed,gnomAD
rs1471680393	p.Arg306Trp	missense variant	-	NC_000001.11:g.24338067C>T	TOPMed,gnomAD
RCV000240841	p.Arg306Ter	frameshift	nonsyndromic cleft palate	NC_000001.11:g.24338067dup	ClinVar
rs778662501	p.Arg306Gln	missense variant	-	NC_000001.11:g.24338068G>A	ExAC,TOPMed,gnomAD
rs745531699	p.Ala310Thr	missense variant	-	NC_000001.11:g.24338079G>A	ExAC,TOPMed,gnomAD
rs1167843366	p.Lys311Arg	missense variant	-	NC_000001.11:g.24338083A>G	gnomAD
rs780280734	p.Gln312Pro	missense variant	-	NC_000001.11:g.24338086A>C	TOPMed
rs780280734	p.Gln312Arg	missense variant	-	NC_000001.11:g.24338086A>G	TOPMed
rs1466660767	p.Val314Ile	missense variant	-	NC_000001.11:g.24338091G>A	gnomAD
rs1333934293	p.Ile315Met	missense variant	-	NC_000001.11:g.24338096T>G	gnomAD
rs137880318	p.Val317Ala	missense variant	-	NC_000001.11:g.24338101T>C	ESP,ExAC,TOPMed,gnomAD
rs373710872	p.Val317Met	missense variant	-	NC_000001.11:g.24338100G>A	ESP,ExAC,TOPMed,gnomAD
rs1334073661	p.Ala318Gly	missense variant	-	NC_000001.11:g.24339668C>G	TOPMed
rs1220503379	p.Asp319Glu	missense variant	-	NC_000001.11:g.24339672C>G	gnomAD
RCV000087749	p.Phe324Ter	frameshift	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24339685_24339686insGT	ClinVar
rs1303183180	p.Phe324Leu	missense variant	-	NC_000001.11:g.24339687C>G	TOPMed,gnomAD
rs1279145175	p.Thr326Ala	missense variant	-	NC_000001.11:g.24339691A>G	gnomAD
NCI-TCGA novel	p.Thr326Pro	missense variant	-	NC_000001.11:g.24339691A>C	NCI-TCGA
rs1316468033	p.Glu328Lys	missense variant	-	NC_000001.11:g.24339697G>A	TOPMed
COSM4030443	p.Glu328Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24339699G>T	NCI-TCGA Cosmic
rs377484322	p.Ile330Val	missense variant	-	NC_000001.11:g.24339703A>G	ESP,ExAC,TOPMed,gnomAD
COSM4844696	p.Glu331Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24339706G>C	NCI-TCGA Cosmic
rs771094081	p.Glu332Ala	missense variant	-	NC_000001.11:g.24339710A>C	ExAC,gnomAD
rs1194638940	p.Val333Met	missense variant	-	NC_000001.11:g.24339712G>A	gnomAD
rs774668611	p.Leu338Gln	missense variant	-	NC_000001.11:g.24339728T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser339Phe	missense variant	-	NC_000001.11:g.24339731C>T	NCI-TCGA
rs576515277	p.Val344Leu	missense variant	-	NC_000001.11:g.24339745G>T	ExAC,TOPMed,gnomAD
rs576515277	p.Val344Met	missense variant	-	NC_000001.11:g.24339745G>A	ExAC,TOPMed,gnomAD
rs373187060	p.Asn345Thr	missense variant	-	NC_000001.11:g.24339749A>C	ESP,ExAC,TOPMed,gnomAD
rs373187060	p.Asn345Ser	missense variant	-	NC_000001.11:g.24339749A>G	ESP,ExAC,TOPMed,gnomAD
rs1297853043	p.Glu347Ala	missense variant	-	NC_000001.11:g.24339755A>C	gnomAD
rs1361356122	p.Ala348Thr	missense variant	-	NC_000001.11:g.24339757G>A	gnomAD
rs761910382	p.Ala348Asp	missense variant	-	NC_000001.11:g.24339758C>A	ExAC,gnomAD
rs1321596578	p.Lys349Glu	missense variant	-	NC_000001.11:g.24339760A>G	gnomAD
NCI-TCGA novel	p.Val350Glu	missense variant	-	NC_000001.11:g.24342116T>A	NCI-TCGA
rs1240818697	p.Gly353Ser	missense variant	-	NC_000001.11:g.24342124G>A	TOPMed,gnomAD
rs375437963	p.Val354Ile	missense variant	-	NC_000001.11:g.24342127G>A	ESP,ExAC,TOPMed,gnomAD
rs1372169936	p.Cys356Ser	missense variant	-	NC_000001.11:g.24342134G>C	TOPMed
COSM1473737	p.Ser363Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342155C>T	NCI-TCGA Cosmic
rs756497305	p.Gln364Lys	missense variant	-	NC_000001.11:g.24342157C>A	ExAC,gnomAD
rs1302445685	p.Gly366Arg	missense variant	-	NC_000001.11:g.24342163G>C	TOPMed
COSM6125500	p.Asn373Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342185A>G	NCI-TCGA Cosmic
rs757219903	p.Gln375Arg	missense variant	-	NC_000001.11:g.24342191A>G	ExAC,gnomAD
rs200690546	p.Tyr379Cys	missense variant	-	NC_000001.11:g.24342203A>G	gnomAD
rs1458498226	p.Tyr379His	missense variant	-	NC_000001.11:g.24342202T>C	gnomAD
rs1388620854	p.Asp380Glu	missense variant	-	NC_000001.11:g.24342207C>A	TOPMed
rs1167128662	p.Cys381Tyr	missense variant	-	NC_000001.11:g.24342209G>A	gnomAD
rs1293439865	p.Gly382Val	missense variant	-	NC_000001.11:g.24342212G>T	TOPMed
NCI-TCGA novel	p.Leu383Phe	missense variant	-	NC_000001.11:g.24342216G>C	NCI-TCGA
rs746065831	p.Leu383Phe	missense variant	-	NC_000001.11:g.24342216G>T	ExAC,gnomAD
rs772473312	p.Gly384Ser	missense variant	-	NC_000001.11:g.24342217G>A	ExAC,gnomAD
rs199589207	p.Gly384Asp	missense variant	-	NC_000001.11:g.24342218G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147284380	p.Arg387Ser	missense variant	-	NC_000001.11:g.24342226C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763012802	p.Arg387His	missense variant	-	NC_000001.11:g.24342227G>A	ExAC,gnomAD
rs147284380	p.Arg387Cys	missense variant	-	NC_000001.11:g.24342226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147968080	p.Val389Ile	missense variant	-	NC_000001.11:g.24342232G>A	ESP,TOPMed,gnomAD
rs147968080	p.Val389Leu	missense variant	-	NC_000001.11:g.24342232G>C	ESP,TOPMed,gnomAD
rs879255245	p.Arg391Cys	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	UniProt,dbSNP
VAR_072617	p.Arg391Cys	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	UniProt
rs879255245	p.Arg391Cys	missense variant	Van der woude syndrome 2 (vws2)	NC_000001.11:g.24342238C>T	gnomAD
RCV000087753	p.Arg391Cys	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	ClinVar
rs1315515436	p.Arg391His	missense variant	-	NC_000001.11:g.24342239G>A	gnomAD
rs1252371012	p.Val393Asp	missense variant	-	NC_000001.11:g.24342245T>A	gnomAD
NCI-TCGA novel	p.Gln395Gly	insertion	-	NC_000001.11:g.24342251_24342252insAGG	NCI-TCGA
rs1481839098	p.Ile396Val	missense variant	-	NC_000001.11:g.24342253A>G	gnomAD
rs1192445341	p.Lys397Arg	missense variant	-	NC_000001.11:g.24342257A>G	TOPMed
COSM1296121	p.Asp401Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342268G>T	NCI-TCGA Cosmic
COSM3865023	p.Gly403Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342695G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg406Lys	missense variant	-	NC_000001.11:g.24342704G>A	NCI-TCGA
NCI-TCGA novel	p.Met408Ile	missense variant	-	NC_000001.11:g.24342711G>A	NCI-TCGA
rs1486197604	p.Met408Thr	missense variant	-	NC_000001.11:g.24342710T>C	gnomAD
rs770938921	p.Arg409Cys	missense variant	-	NC_000001.11:g.24342712C>T	ExAC,TOPMed,gnomAD
RCV000590896	p.Arg409Cys	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.24342712C>T	ClinVar
NCI-TCGA novel	p.Arg409Ser	missense variant	-	NC_000001.11:g.24342712C>A	NCI-TCGA
rs1261266801	p.Arg409His	missense variant	-	NC_000001.11:g.24342713G>A	TOPMed,gnomAD
rs1004096225	p.Asp410Gly	missense variant	-	NC_000001.11:g.24342716A>G	TOPMed,gnomAD
rs745328429	p.Asp410Asn	missense variant	-	NC_000001.11:g.24342715G>A	ExAC,TOPMed,gnomAD
rs371427354	p.Glu412Lys	missense variant	-	NC_000001.11:g.24342721G>A	ESP,ExAC,TOPMed,gnomAD
rs777104226	p.Glu412Asp	missense variant	-	NC_000001.11:g.24342723G>T	ExAC,gnomAD
rs371427354	p.Glu412Gln	missense variant	-	NC_000001.11:g.24342721G>C	ESP,ExAC,TOPMed,gnomAD
rs1314361752	p.Arg413Trp	missense variant	-	NC_000001.11:g.24342724C>T	gnomAD
rs1314361752	p.Arg413Gly	missense variant	-	NC_000001.11:g.24342724C>G	gnomAD
rs1342584115	p.Arg413Leu	missense variant	-	NC_000001.11:g.24342725G>T	TOPMed
COSM281514	p.Arg413Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342725G>A	NCI-TCGA Cosmic
rs1264416558	p.Gln415Arg	missense variant	-	NC_000001.11:g.24342731A>G	gnomAD
rs374698640	p.Phe416Leu	missense variant	-	NC_000001.11:g.24342735C>A	ESP,ExAC,TOPMed,gnomAD
rs993460632	p.Arg417Trp	missense variant	-	NC_000001.11:g.24342736C>T	TOPMed,gnomAD
rs367619721	p.Arg417Gln	missense variant	-	NC_000001.11:g.24342737G>A	ESP,ExAC,TOPMed,gnomAD
rs1301165378	p.Arg418Lys	missense variant	-	NC_000001.11:g.24342740G>A	gnomAD
rs750991067	p.Arg418Gly	missense variant	-	NC_000001.11:g.24342739A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys419Arg	missense variant	-	NC_000001.11:g.24342743A>G	NCI-TCGA
rs1349102768	p.Val420Ile	missense variant	-	NC_000001.11:g.24342745G>A	gnomAD
rs1236903147	p.Lys421Arg	missense variant	-	NC_000001.11:g.24342749A>G	gnomAD
rs1196977658	p.Lys421Asn	missense variant	-	NC_000001.11:g.24342750G>C	gnomAD
rs766633283	p.Pro423Ser	missense variant	-	NC_000001.11:g.24342754C>T	ExAC,TOPMed,gnomAD
rs766633283	p.Pro423Ala	missense variant	-	NC_000001.11:g.24342754C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser426Ile	missense variant	-	NC_000001.11:g.24342764G>T	NCI-TCGA
rs1474587948	p.Asn427Thr	missense variant	-	NC_000001.11:g.24342767A>C	TOPMed
rs964729493	p.Gly429Ala	missense variant	-	NC_000001.11:g.24342892G>C	TOPMed
rs199801227	p.Val430Ile	missense variant	-	NC_000001.11:g.24342894G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs41268751	p.Lys431Glu	missense variant	-	NC_000001.11:g.24342897A>G	TOPMed
rs41268751	p.Lys431Gln	missense variant	-	NC_000001.11:g.24342897A>C	TOPMed
rs149807585	p.Gly432Cys	missense variant	-	NC_000001.11:g.24342900G>T	ESP,ExAC,TOPMed,gnomAD
rs1281509789	p.Gly432Asp	missense variant	-	NC_000001.11:g.24342901G>A	gnomAD
NCI-TCGA novel	p.Gly432Arg	missense variant	-	NC_000001.11:g.24342900G>C	NCI-TCGA
rs1377174259	p.Leu434Met	missense variant	-	NC_000001.11:g.24342906C>A	gnomAD
rs763522239	p.Leu435Val	missense variant	-	NC_000001.11:g.24342909C>G	ExAC,gnomAD
rs771522036	p.Ser436Leu	missense variant	-	NC_000001.11:g.24342913C>T	ExAC,TOPMed,gnomAD
rs759598170	p.Arg439Gly	missense variant	-	NC_000001.11:g.24342921A>G	ExAC,TOPMed,gnomAD
rs1204895238	p.Asn441Lys	missense variant	-	NC_000001.11:g.24342929T>G	gnomAD
rs374245832	p.Glu442Lys	missense variant	-	NC_000001.11:g.24342930G>A	ESP,TOPMed,gnomAD
rs140365190	p.Thr443Met	missense variant	-	NC_000001.11:g.24342934C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764996839	p.Tyr445His	missense variant	-	NC_000001.11:g.24342939T>C	ExAC,gnomAD
COSM3486491	p.Leu446Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342942C>T	NCI-TCGA Cosmic
rs544083411	p.Arg447Leu	missense variant	-	NC_000001.11:g.24342946G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs544083411	p.Arg447Gln	missense variant	-	NC_000001.11:g.24342946G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138087584	p.Arg447Trp	missense variant	-	NC_000001.11:g.24342945C>T	ESP,ExAC,TOPMed,gnomAD
rs1396339277	p.Pro448Ser	missense variant	-	NC_000001.11:g.24342948C>T	gnomAD
rs1331214651	p.Thr454Ala	missense variant	-	NC_000001.11:g.24342966A>G	gnomAD
rs41268753	p.Thr454Met	missense variant	-	NC_000001.11:g.24342967C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000533959	p.Thr454Met	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342967C>T	ClinVar
rs267598464	p.Pro455Leu	missense variant	-	NC_000001.11:g.24342970C>T	gnomAD
rs141193530	p.Pro455Ala	missense variant	-	NC_000001.11:g.24342969C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro456His	missense variant	-	NC_000001.11:g.24342973C>A	NCI-TCGA
rs775989901	p.Val457Met	missense variant	-	NC_000001.11:g.24342975G>A	ExAC,TOPMed,gnomAD
rs1333969565	p.Val457Ala	missense variant	-	NC_000001.11:g.24342976T>C	TOPMed
rs771434100	p.Pro461Ser	missense variant	-	NC_000001.11:g.24342987C>T	ExAC,gnomAD
rs143169996	p.Asn462Ser	missense variant	-	NC_000001.11:g.24342991A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147511442	p.Val463Met	missense variant	-	NC_000001.11:g.24342993G>A	ESP,ExAC,TOPMed,gnomAD
rs1352393187	p.His464Gln	missense variant	-	NC_000001.11:g.24342998C>A	TOPMed
rs1445434324	p.Ser466Phe	missense variant	-	NC_000001.11:g.24343003C>T	gnomAD
rs1257730338	p.Ser467Cys	missense variant	-	NC_000001.11:g.24343005A>T	gnomAD
rs1057164040	p.Arg470Cys	missense variant	-	NC_000001.11:g.24343014C>T	gnomAD
rs886042936	p.Arg470His	missense variant	-	NC_000001.11:g.24343015G>A	TOPMed,gnomAD
RCV000284480	p.Arg470His	missense variant	-	NC_000001.11:g.24343015G>A	ClinVar
rs547231326	p.Ser471Cys	missense variant	-	NC_000001.11:g.24343018C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1345902201	p.Gly472Val	missense variant	-	NC_000001.11:g.24343021G>T	TOPMed
rs980139460	p.Gly473Val	missense variant	-	NC_000001.11:g.24343024G>T	TOPMed,gnomAD
rs980139460	p.Gly473Ala	missense variant	-	NC_000001.11:g.24343024G>C	TOPMed,gnomAD
rs760859984	p.Gly473Arg	missense variant	-	NC_000001.11:g.24343023G>A	ExAC,gnomAD
rs766172979	p.Pro476Thr	missense variant	-	NC_000001.11:g.24344903C>A	ExAC,TOPMed,gnomAD
rs766172979	p.Pro476Ser	missense variant	-	NC_000001.11:g.24344903C>T	ExAC,TOPMed,gnomAD
COSM1320280	p.Pro476Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24344904C>G	NCI-TCGA Cosmic
rs114518869	p.Ser477Leu	missense variant	-	NC_000001.11:g.24344907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151284236	p.Ala478Gly	missense variant	-	NC_000001.11:g.24344910C>G	ESP,ExAC,TOPMed,gnomAD
rs981103462	p.Ala478Thr	missense variant	-	NC_000001.11:g.24344909G>A	TOPMed
COSM3865025	p.Gly479Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24344913G>A	NCI-TCGA Cosmic
rs142369311	p.Pro480His	missense variant	-	NC_000001.11:g.24344916C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752690193	p.Pro480Thr	missense variant	-	NC_000001.11:g.24344915C>A	ExAC,TOPMed,gnomAD
rs763761156	p.Ser481Arg	missense variant	-	NC_000001.11:g.24344918A>C	ExAC,gnomAD
rs753524721	p.Ser481Ile	missense variant	-	NC_000001.11:g.24344919G>T	ExAC,gnomAD
rs757022889	p.Ser483Phe	missense variant	-	NC_000001.11:g.24344925C>T	ExAC,TOPMed,gnomAD
rs746182160	p.Asn484Lys	missense variant	-	NC_000001.11:g.24344929C>A	ExAC,TOPMed,gnomAD
rs116396279	p.Asn484Ser	missense variant	-	NC_000001.11:g.24344928A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn484ThrPheSerTerUnk	frameshift	-	NC_000001.11:g.24344927A>-	NCI-TCGA
NCI-TCGA novel	p.Asn484His	missense variant	-	NC_000001.11:g.24344927A>C	NCI-TCGA
RCV000525797	p.Asn484Ser	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24344928A>G	ClinVar
rs780367647	p.Arg485Gly	missense variant	-	NC_000001.11:g.24344930A>G	ExAC,TOPMed,gnomAD
rs1380777984	p.Pro487Ala	missense variant	-	NC_000001.11:g.24346557C>G	TOPMed
rs1233311463	p.Leu488Arg	missense variant	-	NC_000001.11:g.24346561T>G	gnomAD
rs138381915	p.Arg490His	missense variant	-	NC_000001.11:g.24346567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375906769	p.Arg490Cys	missense variant	-	NC_000001.11:g.24346566C>T	ESP,ExAC,TOPMed,gnomAD
rs560956531	p.Thr491Ala	missense variant	-	NC_000001.11:g.24346569A>G	1000Genomes,ExAC,gnomAD
rs560956531	p.Thr491Pro	missense variant	-	NC_000001.11:g.24346569A>C	1000Genomes,ExAC,gnomAD
rs752049192	p.Ser493Leu	missense variant	-	NC_000001.11:g.24346576C>T	ExAC,TOPMed,gnomAD
rs781686245	p.Pro494Leu	missense variant	-	NC_000001.11:g.24346579C>T	ExAC,gnomAD
rs755517732	p.Pro494Ser	missense variant	-	NC_000001.11:g.24346578C>T	ExAC,TOPMed,gnomAD
rs200274487	p.Thr496Ala	missense variant	-	NC_000001.11:g.24346584A>G	1000Genomes,TOPMed,gnomAD
rs200274487	p.Thr496Pro	missense variant	-	NC_000001.11:g.24346584A>C	1000Genomes,TOPMed,gnomAD
rs1419950579	p.Glu497Asp	missense variant	-	NC_000001.11:g.24346589G>C	gnomAD
rs769929517	p.Phe499Leu	missense variant	-	NC_000001.11:g.24346593T>C	ExAC,gnomAD
COSM3789761	p.Glu500Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24346596G>C	NCI-TCGA Cosmic
rs1241732849	p.Pro501Leu	missense variant	-	NC_000001.11:g.24346600C>T	TOPMed
rs777787551	p.Pro501Ser	missense variant	-	NC_000001.11:g.24346599C>T	ExAC,TOPMed,gnomAD
rs1463304936	p.Pro503Leu	missense variant	-	NC_000001.11:g.24346606C>T	gnomAD
rs749587799	p.Ser504Ala	missense variant	-	NC_000001.11:g.24346608T>G	ExAC,gnomAD
rs771748107	p.Lys505Glu	missense variant	-	NC_000001.11:g.24346611A>G	ExAC,gnomAD
rs1314240381	p.Ala507Gly	missense variant	-	NC_000001.11:g.24346618C>G	gnomAD
rs775471317	p.Ala507Thr	missense variant	-	NC_000001.11:g.24346617G>A	ExAC,gnomAD
rs1359234448	p.Gly510Asp	missense variant	-	NC_000001.11:g.24346627G>A	gnomAD
rs137964149	p.Asp511Asn	missense variant	-	NC_000001.11:g.24346629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571213405	p.Leu512Phe	missense variant	-	NC_000001.11:g.24346632C>T	1000Genomes,ExAC,gnomAD
rs764808943	p.Gln513Arg	missense variant	-	NC_000001.11:g.24346636A>G	ExAC,TOPMed,gnomAD
rs1238790353	p.Arg514Thr	missense variant	-	NC_000001.11:g.24346639G>C	TOPMed
COSM1584339	p.Arg514Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24346639G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu516Pro	missense variant	-	NC_000001.11:g.24347471T>C	NCI-TCGA
NCI-TCGA novel	p.Tyr518Ser	missense variant	-	NC_000001.11:g.24347477A>C	NCI-TCGA
rs1395729675	p.Val519Met	missense variant	-	NC_000001.11:g.24347479G>A	gnomAD
rs946439477	p.Arg520Gln	missense variant	-	NC_000001.11:g.24347483G>A	TOPMed,gnomAD
rs753127269	p.Arg520Trp	missense variant	-	NC_000001.11:g.24347482C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg521Met	missense variant	-	NC_000001.11:g.24347486G>T	NCI-TCGA
RCV000087750	p.Glu522Ter	frameshift	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24347483_24347486GGAG[1]	ClinVar
rs1045288607	p.Thr523Ala	missense variant	-	NC_000001.11:g.24347491A>G	TOPMed
rs1374340632	p.Val526Gly	missense variant	-	NC_000001.11:g.24347501T>G	TOPMed,gnomAD
rs376342726	p.Val526Met	missense variant	-	NC_000001.11:g.24347500G>A	ESP,ExAC,TOPMed,gnomAD
rs369646688	p.Asp528Glu	missense variant	-	NC_000001.11:g.24347508C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766083361	p.Ala529Thr	missense variant	-	NC_000001.11:g.24347509G>A	ExAC,TOPMed,gnomAD
rs753414526	p.Ala529Val	missense variant	-	NC_000001.11:g.24347510C>T	ExAC,TOPMed,gnomAD
rs1472303415	p.Met531Lys	missense variant	-	NC_000001.11:g.24347516T>A	TOPMed
rs1182387377	p.Pro535Ala	missense variant	-	NC_000001.11:g.24347527C>G	TOPMed
rs769729251	p.Asp536Asn	missense variant	-	NC_000001.11:g.24347530G>A	ExAC,TOPMed,gnomAD
rs773044471	p.Lys538Asn	missense variant	-	NC_000001.11:g.24347538G>T	ExAC,gnomAD
rs1373800510	p.Glu546Lys	missense variant	-	NC_000001.11:g.24350064G>A	gnomAD
rs1414254043	p.Lys547Arg	missense variant	-	NC_000001.11:g.24350068A>G	TOPMed,gnomAD
rs777703670	p.Phe550Leu	missense variant	-	NC_000001.11:g.24350076T>C	TOPMed,gnomAD
rs777703670	p.Phe550Ile	missense variant	-	NC_000001.11:g.24350076T>A	TOPMed,gnomAD
rs750573203	p.Asn554Ile	missense variant	-	NC_000001.11:g.24350089A>T	ExAC,TOPMed,gnomAD
rs750573203	p.Asn554Thr	missense variant	-	NC_000001.11:g.24350089A>C	ExAC,TOPMed,gnomAD
rs750573203	p.Asn554Ser	missense variant	-	NC_000001.11:g.24350089A>G	ExAC,TOPMed,gnomAD
rs954635487	p.Lys557Glu	missense variant	-	NC_000001.11:g.24350097A>G	TOPMed
rs1390189012	p.Arg564Ter	stop gained	-	NC_000001.11:g.24350118C>T	TOPMed
rs766563561	p.Arg564Gln	missense variant	-	NC_000001.11:g.24350119G>A	ExAC,gnomAD
rs1276355647	p.Gly565Arg	missense variant	-	NC_000001.11:g.24350121G>A	gnomAD
rs6694170	p.Glu566Lys	missense variant	-	NC_000001.11:g.24364186G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs6694170	p.Glu566Ter	stop gained	-	NC_000001.11:g.24364186G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1040447178	p.Glu566Asp	missense variant	-	NC_000001.11:g.24364188A>C	TOPMed,gnomAD
rs1434750524	p.Glu566Gly	missense variant	-	NC_000001.11:g.24364187A>G	TOPMed,gnomAD
RCV000202651	p.Glu566Lys	missense variant	-	NC_000001.11:g.24364186G>A	ClinVar
rs1050497646	p.His571Leu	missense variant	-	NC_000001.11:g.24364202A>T	TOPMed,gnomAD
rs994944673	p.His571Tyr	missense variant	-	NC_000001.11:g.24364201C>T	TOPMed,gnomAD
rs151326764	p.Arg573Leu	missense variant	-	NC_000001.11:g.24364208G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763952499	p.Arg573Cys	missense variant	-	NC_000001.11:g.24364207C>T	ExAC,TOPMed,gnomAD
rs151326764	p.Arg573His	missense variant	-	NC_000001.11:g.24364208G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763952499	p.Arg573Ser	missense variant	-	NC_000001.11:g.24364207C>A	ExAC,TOPMed,gnomAD
rs1233923407	p.Leu574Met	missense variant	-	NC_000001.11:g.24364210C>A	TOPMed,gnomAD
rs773073578	p.Arg576His	missense variant	-	NC_000001.11:g.24364217G>A	TOPMed,gnomAD
rs893330497	p.Arg576Cys	missense variant	-	NC_000001.11:g.24364216C>T	TOPMed,gnomAD
rs1248390232	p.His577Gln	missense variant	-	NC_000001.11:g.24364221C>A	TOPMed,gnomAD
rs1023025621	p.Pro578Ser	missense variant	-	NC_000001.11:g.24364222C>T	TOPMed,gnomAD
rs998813039	p.Pro578Leu	missense variant	-	NC_000001.11:g.24364223C>T	TOPMed
rs535901162	p.Pro579Ser	missense variant	-	NC_000001.11:g.24364225C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs535901162	p.Pro579Thr	missense variant	-	NC_000001.11:g.24364225C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1016021379	p.Pro579Leu	missense variant	-	NC_000001.11:g.24364226C>T	gnomAD
rs1016021379	p.Pro579Arg	missense variant	-	NC_000001.11:g.24364226C>G	gnomAD
rs1016021379	p.Pro579Gln	missense variant	-	NC_000001.11:g.24364226C>A	gnomAD
rs1178878021	p.Glu584Gly	missense variant	-	NC_000001.11:g.24364241A>G	gnomAD
rs1410325513	p.Cys585Ser	missense variant	-	NC_000001.11:g.24364243T>A	gnomAD
rs1158230326	p.Ser586Phe	missense variant	-	NC_000001.11:g.24364247C>T	TOPMed
rs1437522091	p.Ser586Pro	missense variant	-	NC_000001.11:g.24364246T>C	gnomAD
rs1160458447	p.His587Tyr	missense variant	-	NC_000001.11:g.24364249C>T	TOPMed,gnomAD
rs1391250087	p.Pro588Ser	missense variant	-	NC_000001.11:g.24364252C>T	TOPMed,gnomAD
rs1391250087	p.Pro588Ala	missense variant	-	NC_000001.11:g.24364252C>G	TOPMed,gnomAD
rs1359092192	p.Val592Met	missense variant	-	NC_000001.11:g.24364264G>A	TOPMed
rs112469942	p.Met595Ile	missense variant	-	NC_000001.11:g.24364275G>T	TOPMed,gnomAD
rs545809	p.Met595Lys	missense variant	-	NC_000001.11:g.24364274T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1320975372	p.Met595Val	missense variant	-	NC_000001.11:g.24364273A>G	gnomAD
rs1444169871	p.Gly598Val	missense variant	-	NC_000001.11:g.24364283G>T	TOPMed
rs1285127281	p.Asp599Gly	missense variant	-	NC_000001.11:g.24364286A>G	gnomAD
rs951911760	p.Gln604Lys	missense variant	-	NC_000001.11:g.24364300C>A	TOPMed,gnomAD
rs1348616682	p.Asp606Ala	missense variant	-	NC_000001.11:g.24364307A>C	TOPMed,gnomAD
rs747321006	p.Leu607Val	missense variant	-	NC_000001.11:g.24364309C>G	ExAC,TOPMed,gnomAD
rs775916587	p.Asp608Ala	missense variant	-	NC_000001.11:g.24364313A>C	TOPMed,gnomAD
rs1218971934	p.Ser612Arg	missense variant	-	NC_000001.11:g.24364326C>A	gnomAD
rs1204166581	p.Pro613Ser	missense variant	-	NC_000001.11:g.24364327C>T	TOPMed
rs1264431029	p.Thr615Asn	missense variant	-	NC_000001.11:g.24364334C>A	TOPMed,gnomAD
rs1201031946	p.Val616Ile	missense variant	-	NC_000001.11:g.24364336G>A	TOPMed,gnomAD
rs1189846276	p.His620Gln	missense variant	-	NC_000001.11:g.24364350C>A	TOPMed
rs920830003	p.Phe621Leu	missense variant	-	NC_000001.11:g.24364351T>C	TOPMed
rs1403913099	p.Asn624Asp	missense variant	-	NC_000001.11:g.24364360A>G	gnomAD
rs539431346	p.Ser625Ter	stop gained	-	NC_000001.11:g.24364364C>A	1000Genomes,TOPMed,gnomAD
rs539431346	p.Ser625Leu	missense variant	-	NC_000001.11:g.24364364C>T	1000Genomes,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0008925	Cleft Palate	disease	BEFREE
C0011999	Diastematomyelia	disease	CTD_human
C0015927	Fetal Death	phenotype	CTD_human
C0027794	Neural Tube Defects	group	BEFREE;CTD_human
C0027806	Neurenteric Cyst	disease	CTD_human
C0027831	Neurofibromatosis 1	disease	BEFREE
C0033860	Psoriasis	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0175697	Van der Woude syndrome	disease	BEFREE;CLINVAR;MGD;ORPHANET
C0178874	Tumor Progression	phenotype	BEFREE
C0266122	Cleft uvula	disease	HPO;ORPHANET
C0266453	Exencephaly	disease	CTD_human
C0338656	Impaired cognition	disease	BEFREE
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0432090	Cleft of hard palate	disease	ORPHANET
C0432098	Cleft Soft Palate	disease	ORPHANET
C0432103	Submucous cleft of hard palate	disease	ORPHANET
C0553723	Squamous cell carcinoma of skin	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0702169	Acrania	disease	CTD_human
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1306459	Primary malignant neoplasm	group	BEFREE
C1834339	Myopathy, Actin, Congenital, with Excess of Thin Myofilaments	disease	MGD
C1834664	Nasal, dysarthic speech	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1847604	Van der Woude syndrome 2	disease	CLINVAR;CTD_human;UNIPROT
C1861544	Lower lip pit	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3266076	Orofacial cleft	disease	BEFREE
C3539909	Allergic disposition	phenotype	BEFREE
C3662483	Allergic sensitization	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0005515	protein binding	IPI
GO:0031490	chromatin DNA binding	IDA
GO:0043565	sequence-specific DNA binding	ISS
GO:0043565	sequence-specific DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001736	establishment of planar polarity	IEA
GO:0001843	neural tube closure	ISS
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007389	pattern specification process	IEA
GO:0007398	ectoderm development	IEA
GO:0007417	central nervous system development	IEA
GO:0008544	epidermis development	ISS
GO:0032956	regulation of actin cytoskeleton organization	IGI
GO:0042060	wound healing	IEA
GO:0043547	positive regulation of GTPase activity	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0061029	eyelid development in camera-type eye	IEA
GO:0061436	establishment of skin barrier	IEA
GO:0090103	cochlea morphogenesis	IEA
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of GRHL3 mRNA	19167446
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 GRHL3 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 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 GRHL3 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 GRHL3 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 p-Chloromercuribenzoic 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 GRHL3 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 GRHL3 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 GRHL3 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 GRHL3 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 Vorinostat 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 GRHL3 mRNA	27188386
D020106	Acrylamide	Acrylamide results in increased expression of GRHL3 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of GRHL3 mRNA	21641981
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of GRHL3 mRNA	21298039
C487081	belinostat	belinostat results in increased expression of GRHL3 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 GRHL3 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GRHL3 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of GRHL3 gene	25435355
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of GRHL3 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of GRHL3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased methylation of GRHL3 promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of GRHL3 mRNA	25181051
D002117	Calcitriol	Calcitriol results in decreased expression of GRHL3 mRNA	16002434
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of GRHL3 mRNA	24763279
D002945	Cisplatin	Cisplatin affects the expression of GRHL3 mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of GRHL3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of GRHL3 mRNA	27392435
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of GRHL3 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of GRHL3 mRNA	19167446
D003471	Cuprizone	Cuprizone results in decreased expression of GRHL3 mRNA	26577399; 27523638;
D000077209	Decitabine	Decitabine affects the expression of GRHL3 mRNA	23300844
D004237	Diuron	Diuron results in increased expression of GRHL3 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 GRHL3 mRNA	27188386
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 GRHL3 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 GRHL3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 GRHL3 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 GRHL3 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 GRHL3 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 GRHL3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat 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 GRHL3 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of GRHL3 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of GRHL3 mRNA	30165855
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of GRHL3 mRNA	23649840
D005472	Fluorouracil	Fluorouracil affects the expression of GRHL3 mRNA	16584549
D005557	Formaldehyde	Formaldehyde results in decreased expression of GRHL3 mRNA	20655997; 28937961;
D005557	Formaldehyde	Formaldehyde results in increased expression of GRHL3 mRNA	23649840
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of GRHL3 mRNA	24763279
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of GRHL3 mRNA	26846883
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of GRHL3 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in increased expression of GRHL3 mRNA	28988120
C042720	mercuric bromide	mercuric bromide results in increased expression of GRHL3 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 GRHL3 mRNA	27188386
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of GRHL3 mRNA	23649840
D009151	Mustard Gas	Mustard Gas results in increased expression of GRHL3 mRNA	25102026
D009534	Niclosamide	Niclosamide affects the expression of GRHL3 mRNA	31398420
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 GRHL3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of GRHL3 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 GRHL3 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of GRHL3 mRNA	26272509
C046012	pentanal	pentanal results in increased expression of GRHL3 mRNA	26079696
D010634	Phenobarbital	Phenobarbital results in increased expression of GRHL3 mRNA	25270620
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 GRHL3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of GRHL3 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in decreased expression of GRHL3 mRNA	23557933
D011374	Progesterone	Progesterone results in decreased expression of GRHL3 mRNA	22238285
C005556	propionaldehyde	propionaldehyde results in increased expression of GRHL3 mRNA	26079696
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of GRHL3 mRNA	19167446
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of GRHL3 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in decreased expression of GRHL3 mRNA	29361514
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GRHL3 mRNA	23152189
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GRHL3 mRNA	21570461
C011559	tributyltin	tributyltin results in decreased expression of GRHL3 mRNA	29505797
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 GRHL3 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of GRHL3 mRNA	24935251; 26272509;
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 GRHL3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of GRHL3 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of GRHL3 mRNA	23179753; 24383497; 24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of GRHL3 gene	25560391
D014801	Vitamin A	GRHL3 gene mutant form results in increased susceptibility to Vitamin A	6635991
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat 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 GRHL3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of GRHL3 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR007604	CP2
IPR040167	TF_CP2-like

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF04516	CP2

Gene: GRHL3

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

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