CleftGeneDB-Search

Gene: ALX1

Basic information

Tag	Content
Uniprot ID	Q15699; Q546C8; Q96FH4;
Entrez ID	8092
Genbank protein ID	CAD90155.1; AAH10923.1; AAB08960.1;
Genbank nucleotide ID	NM_006982.2
Ensembl protein ID	ENSP00000315417
Ensembl nucleotide ID	ENSG00000180318
Gene name	ALX homeobox protein 1
Gene symbol	ALX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).
Sequence	MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV QAFGPLPRAE 60 HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN SLRMSPVKGM QEKGELDELG 120 DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 180 QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM 240 LPRDTSSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 300 FERRSSSIAV LRMKAKEHTA NISWAM 326

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	ALX1	102168422	A0A452G2P5		Capra hircus	Prediction	More>>
1:1 ortholog	ALX1	8092	Q15699		Homo sapiens	Prediction	More>>
1:1 ortholog	Alx1	216285	Q8C8B0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ALX1	452109	H2Q6K1		Pan troglodytes	Prediction	More>>
1:1 ortholog	ALX1	100525700	A0A287AYX1		Sus scrofa	Prediction	More>>
1:1 ortholog	ALX1	100354176	G1SWL0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Alx1	25401	Q63087		Rattus norvegicus	Prediction	More>>
1:1 ortholog	alx1	565176	Q1LVQ7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs763849212	p.Ser5Arg	missense variant	-	NC_000012.12:g.85280276C>A	ExAC,TOPMed,gnomAD
rs1004003622	p.Lys7Met	missense variant	-	NC_000012.12:g.85280281A>T	TOPMed
NCI-TCGA novel	p.Lys7Arg	missense variant	-	NC_000012.12:g.85280281A>G	NCI-TCGA
NCI-TCGA novel	p.Lys7Thr	missense variant	-	NC_000012.12:g.85280281A>C	NCI-TCGA
rs1435940451	p.Phe8Ser	missense variant	-	NC_000012.12:g.85280284T>C	TOPMed
rs376214478	p.Ala9Val	missense variant	-	NC_000012.12:g.85280287C>T	ESP,ExAC,gnomAD
rs1213627097	p.Leu10Phe	missense variant	-	NC_000012.12:g.85280289C>T	gnomAD
rs750759166	p.Lys11Glu	missense variant	-	NC_000012.12:g.85280292A>G	ExAC,gnomAD
rs1205596156	p.Ser12Ile	missense variant	-	NC_000012.12:g.85280296G>T	TOPMed
rs759032123	p.Pro13Ser	missense variant	-	NC_000012.12:g.85280298C>T	ExAC,gnomAD
rs780416730	p.Pro13Arg	missense variant	-	NC_000012.12:g.85280299C>G	ExAC,gnomAD
rs1210273098	p.Ser15Arg	missense variant	-	NC_000012.12:g.85280304A>C	gnomAD
rs1015342746	p.Ser15Asn	missense variant	-	NC_000012.12:g.85280305G>A	TOPMed,gnomAD
rs1218224142	p.Asn17Thr	missense variant	-	NC_000012.12:g.85280311A>C	TOPMed
rs1195488858	p.Ser18Gly	missense variant	-	NC_000012.12:g.85280313A>G	gnomAD
rs1424083961	p.Asp19Ala	missense variant	-	NC_000012.12:g.85280317A>C	gnomAD
rs768593991	p.Asp19His	missense variant	-	NC_000012.12:g.85280316G>C	ExAC
NCI-TCGA novel	p.Asp19Glu	missense variant	-	NC_000012.12:g.85280318C>A	NCI-TCGA
rs1427573821	p.Met22Ile	missense variant	-	NC_000012.12:g.85280327G>C	gnomAD
rs1171032168	p.Met22Arg	missense variant	-	NC_000012.12:g.85280326T>G	gnomAD
rs1427573821	p.Met22Ile	missense variant	-	NC_000012.12:g.85280327G>A	gnomAD
rs1276039534	p.Gly26Asp	missense variant	-	NC_000012.12:g.85280338G>A	TOPMed
NCI-TCGA novel	p.Gly26Cys	missense variant	-	NC_000012.12:g.85280337G>T	NCI-TCGA
rs1236266838	p.Pro27Thr	missense variant	-	NC_000012.12:g.85280340C>A	TOPMed
rs201314651	p.Pro27Arg	missense variant	-	NC_000012.12:g.85280341C>G	1000Genomes
rs1317761911	p.Leu28Pro	missense variant	-	NC_000012.12:g.85280344T>C	TOPMed,gnomAD
rs1317761911	p.Leu28Gln	missense variant	-	NC_000012.12:g.85280344T>A	TOPMed,gnomAD
rs781280416	p.Glu29Gly	missense variant	-	NC_000012.12:g.85280347A>G	ExAC,gnomAD
COSM695584	p.His30Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280349C>T	NCI-TCGA Cosmic
rs748403633	p.Val31Ile	missense variant	-	NC_000012.12:g.85280352G>A	ExAC,TOPMed,gnomAD
rs748403633	p.Val31Leu	missense variant	-	NC_000012.12:g.85280352G>C	ExAC,TOPMed,gnomAD
rs748403633	p.Val31Phe	missense variant	-	NC_000012.12:g.85280352G>T	ExAC,TOPMed,gnomAD
rs769939946	p.Val31Asp	missense variant	-	NC_000012.12:g.85280353T>A	ExAC
rs368906149	p.Thr34Ser	missense variant	-	NC_000012.12:g.85280361A>T	ESP,TOPMed,gnomAD
rs774149369	p.Thr34Met	missense variant	-	NC_000012.12:g.85280362C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774149369	p.Thr34Met	missense variant	-	NC_000012.12:g.85280362C>T	ExAC,gnomAD
rs774149369	p.Thr34Arg	missense variant	-	NC_000012.12:g.85280362C>G	ExAC,gnomAD
rs1272696646	p.Leu35Met	missense variant	-	NC_000012.12:g.85280364C>A	TOPMed,gnomAD
rs1272696646	p.Leu35Val	missense variant	-	NC_000012.12:g.85280364C>G	TOPMed,gnomAD
rs1346715045	p.Leu35Arg	missense variant	-	NC_000012.12:g.85280365T>G	TOPMed,gnomAD
COSM3813142	p.Asp36His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280367G>C	NCI-TCGA Cosmic
rs775260906	p.Asn37Ser	missense variant	-	NC_000012.12:g.85280371A>G	ExAC
rs372544988	p.Asn37Asp	missense variant	-	NC_000012.12:g.85280370A>G	ESP,ExAC,TOPMed,gnomAD
rs376329142	p.Glu38Lys	missense variant	-	NC_000012.12:g.85280373G>A	ESP,ExAC,TOPMed,gnomAD
rs369826150	p.Glu38Asp	missense variant	-	NC_000012.12:g.85280375G>C	ESP,TOPMed
rs1263900936	p.Phe40Leu	missense variant	-	NC_000012.12:g.85280379T>C	gnomAD
rs1450790066	p.Tyr41Asp	missense variant	-	NC_000012.12:g.85280382T>G	TOPMed,gnomAD
rs1196537753	p.Tyr41Phe	missense variant	-	NC_000012.12:g.85280383A>T	gnomAD
rs776213513	p.Ser42Gly	missense variant	-	NC_000012.12:g.85280385A>G	ExAC
rs148136812	p.Ser42Thr	missense variant	-	NC_000012.12:g.85280386G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser42Asn	missense variant	-	NC_000012.12:g.85280386G>A	NCI-TCGA
NCI-TCGA novel	p.Ala44Val	missense variant	-	NC_000012.12:g.85280392C>T	NCI-TCGA
rs986158806	p.Ser45Phe	missense variant	-	NC_000012.12:g.85280395C>T	TOPMed
rs764969720	p.Ala46Glu	missense variant	-	NC_000012.12:g.85280398C>A	ExAC,gnomAD
rs914521573	p.Cys49Ser	missense variant	-	NC_000012.12:g.85280407G>C	TOPMed
rs1243906545	p.Cys49Ser	missense variant	-	NC_000012.12:g.85280406T>A	TOPMed,gnomAD
rs766955975	p.Val50Leu	missense variant	-	NC_000012.12:g.85280409G>T	ExAC,TOPMed,gnomAD
rs150692244	p.Val50Gly	missense variant	-	NC_000012.12:g.85280410T>G	ESP,ExAC,TOPMed,gnomAD
rs150692244	p.Val50Ala	missense variant	-	NC_000012.12:g.85280410T>C	ESP,ExAC,TOPMed,gnomAD
rs766955975	p.Val50Met	missense variant	-	NC_000012.12:g.85280409G>A	ExAC,TOPMed,gnomAD
rs748172443	p.Gln51Arg	missense variant	-	NC_000012.12:g.85280413A>G	ExAC,TOPMed,gnomAD
rs781138367	p.Gln51Lys	missense variant	-	NC_000012.12:g.85280412C>A	ExAC,gnomAD
rs748172443	p.Gln51Pro	missense variant	-	NC_000012.12:g.85280413A>C	ExAC,TOPMed,gnomAD
rs1332394039	p.Ala52Asp	missense variant	-	NC_000012.12:g.85280416C>A	gnomAD
rs1436761407	p.Phe53Leu	missense variant	-	NC_000012.12:g.85280418T>C	gnomAD
NCI-TCGA novel	p.Phe53Val	missense variant	-	NC_000012.12:g.85280418T>G	NCI-TCGA
rs1308148913	p.Gly54Arg	missense variant	-	NC_000012.12:g.85280421G>C	gnomAD
rs756389093	p.Gly54Val	missense variant	-	NC_000012.12:g.85280422G>T	ExAC,gnomAD
rs756389093	p.Gly54Glu	missense variant	-	NC_000012.12:g.85280422G>A	ExAC,gnomAD
rs1241736578	p.Pro55Thr	missense variant	-	NC_000012.12:g.85280424C>A	gnomAD
COSM6138370	p.Pro57His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280431C>A	NCI-TCGA Cosmic
rs1447780227	p.Pro57Leu	missense variant	-	NC_000012.12:g.85280431C>T	TOPMed
rs768579174	p.Arg58His	missense variant	-	NC_000012.12:g.85280434G>A	ExAC,TOPMed,gnomAD
rs768579174	p.Arg58Leu	missense variant	-	NC_000012.12:g.85280434G>T	ExAC,TOPMed,gnomAD
rs138946669	p.Arg58Gly	missense variant	-	NC_000012.12:g.85280433C>G	ESP,ExAC,TOPMed,gnomAD
rs1452025009	p.Ala59Val	missense variant	-	NC_000012.12:g.85280437C>T	gnomAD
NCI-TCGA novel	p.Glu60Gln	missense variant	-	NC_000012.12:g.85280439G>C	NCI-TCGA
rs115440539	p.His61Arg	missense variant	-	NC_000012.12:g.85280443A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772972571	p.His62Gln	missense variant	-	NC_000012.12:g.85280447C>G	ExAC,TOPMed,gnomAD
rs1048636970	p.Val63Met	missense variant	-	NC_000012.12:g.85280448G>A	TOPMed,gnomAD
rs1048636970	p.Val63Leu	missense variant	-	NC_000012.12:g.85280448G>T	TOPMed,gnomAD
rs145944049	p.Arg64Cys	missense variant	-	NC_000012.12:g.85280451C>T	ESP,ExAC,TOPMed,gnomAD
rs115596276	p.Arg64His	missense variant	-	NC_000012.12:g.85280452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000353018	p.Arg64Leu	missense variant	-	NC_000012.12:g.85280452G>T	ClinVar
rs145944049	p.Arg64Gly	missense variant	-	NC_000012.12:g.85280451C>G	ESP,ExAC,TOPMed,gnomAD
RCV000195110	p.Arg64Cys	missense variant	-	NC_000012.12:g.85280451C>T	ClinVar
rs145944049	p.Arg64Ser	missense variant	-	NC_000012.12:g.85280451C>A	ESP,ExAC,TOPMed,gnomAD
rs115596276	p.Arg64Leu	missense variant	-	NC_000012.12:g.85280452G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu65Phe	missense variant	-	NC_000012.12:g.85280456G>C	NCI-TCGA
NCI-TCGA novel	p.Leu65Ser	missense variant	-	NC_000012.12:g.85280455T>C	NCI-TCGA
rs1330229863	p.Glu66Asp	missense variant	-	NC_000012.12:g.85280459G>C	TOPMed,gnomAD
rs751887592	p.Glu66Gln	missense variant	-	NC_000012.12:g.85280457G>C	ExAC,gnomAD
rs561233322	p.Arg67Met	missense variant	-	NC_000012.12:g.85280461G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr68Ala	missense variant	-	NC_000012.12:g.85280463A>G	NCI-TCGA
rs1309358656	p.Ser69Leu	missense variant	-	NC_000012.12:g.85280467C>T	TOPMed,gnomAD
rs777754230	p.Cys71Gly	missense variant	-	NC_000012.12:g.85280472T>G	ExAC,TOPMed,gnomAD
rs777754230	p.Cys71Ser	missense variant	-	NC_000012.12:g.85280472T>A	ExAC,TOPMed,gnomAD
rs1285955190	p.Ser74Arg	missense variant	-	NC_000012.12:g.85280483C>G	gnomAD
rs1228104463	p.Ser74Gly	missense variant	-	NC_000012.12:g.85280481A>G	TOPMed
rs778019022	p.Ser75Arg	missense variant	-	NC_000012.12:g.85280486C>G	ExAC,TOPMed,gnomAD
rs749536472	p.Val76Leu	missense variant	-	NC_000012.12:g.85280487G>T	ExAC,TOPMed,gnomAD
rs749536472	p.Val76Met	missense variant	-	NC_000012.12:g.85280487G>A	ExAC,TOPMed,gnomAD
rs769785667	p.Asn77Lys	missense variant	-	NC_000012.12:g.85283576C>G	ExAC,gnomAD
rs748821759	p.Lys82Glu	missense variant	-	NC_000012.12:g.85283589A>G	ExAC,gnomAD
rs1200413690	p.Val83Ala	missense variant	-	NC_000012.12:g.85283593T>C	TOPMed
rs770560371	p.Gly85Glu	missense variant	-	NC_000012.12:g.85283599G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln86Ter	stop gained	-	NC_000012.12:g.85283601C>T	NCI-TCGA
NCI-TCGA novel	p.Pro87His	missense variant	-	NC_000012.12:g.85283605C>A	NCI-TCGA
NCI-TCGA novel	p.Pro87Thr	missense variant	-	NC_000012.12:g.85283604C>A	NCI-TCGA
rs75478848	p.His89Arg	missense variant	-	NC_000012.12:g.85283611A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6138369	p.Thr90Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283614C>G	NCI-TCGA Cosmic
rs759868076	p.Thr90Pro	missense variant	-	NC_000012.12:g.85283613A>C	ExAC,gnomAD
COSM944114	p.Glu91Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283616G>A	NCI-TCGA Cosmic
rs772449913	p.Asn93His	missense variant	-	NC_000012.12:g.85283622A>C	ExAC,gnomAD
rs575084641	p.Arg94Ser	missense variant	-	NC_000012.12:g.85283627A>C	1000Genomes,ExAC,gnomAD
rs559747219	p.Arg94Gly	missense variant	-	NC_000012.12:g.85283625A>G	1000Genomes,ExAC,gnomAD
rs1431104064	p.Arg94Thr	missense variant	-	NC_000012.12:g.85283626G>C	gnomAD
rs1395145091	p.Met96Val	missense variant	-	NC_000012.12:g.85283631A>G	TOPMed,gnomAD
rs753930662	p.Met96Lys	missense variant	-	NC_000012.12:g.85283632T>A	ExAC,TOPMed,gnomAD
COSM3417233	p.Asp97Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283635A>C	NCI-TCGA Cosmic
rs946319311	p.Asn98Ile	missense variant	-	NC_000012.12:g.85283638A>T	TOPMed
COSM3782771	p.Asn100Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283645C>A	NCI-TCGA Cosmic
rs369322898	p.Asn100Asp	missense variant	-	NC_000012.12:g.85283643A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu102Phe	missense variant	-	NC_000012.12:g.85283649C>T	NCI-TCGA
COSM6073861	p.Arg103Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283653G>A	NCI-TCGA Cosmic
rs1454076521	p.Arg103Ter	stop gained	-	NC_000012.12:g.85283652C>T	NCI-TCGA Cosmic
rs1454076521	p.Arg103Ter	stop gained	-	NC_000012.12:g.85283652C>T	gnomAD
rs1292757924	p.Met104Ile	missense variant	-	NC_000012.12:g.85283657G>A	gnomAD
rs1376906850	p.Ser105Cys	missense variant	-	NC_000012.12:g.85283659C>G	TOPMed
rs750676414	p.Val107Leu	missense variant	-	NC_000012.12:g.85283664G>T	NCI-TCGA,NCI-TCGA Cosmic
rs750676414	p.Val107Leu	missense variant	-	NC_000012.12:g.85283664G>T	ExAC,gnomAD
rs750676414	p.Val107Leu	missense variant	-	NC_000012.12:g.85283664G>C	ExAC,gnomAD
rs1304532595	p.Lys108Arg	missense variant	-	NC_000012.12:g.85283668A>G	gnomAD
rs1449588129	p.Met110Val	missense variant	-	NC_000012.12:g.85283673A>G	TOPMed
rs752484974	p.Met110Thr	missense variant	-	NC_000012.12:g.85283674T>C	ExAC,TOPMed,gnomAD
rs1238124604	p.Met110Ile	missense variant	-	NC_000012.12:g.85283675G>C	gnomAD
rs752484974	p.Met110Lys	missense variant	-	NC_000012.12:g.85283674T>A	ExAC,TOPMed,gnomAD
COSM4922990	p.Glu112Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283679G>A	NCI-TCGA Cosmic
rs1288725679	p.Lys113Arg	missense variant	-	NC_000012.12:g.85283683A>G	gnomAD
rs374720581	p.Gly114Glu	missense variant	-	NC_000012.12:g.85283686G>A	ESP,ExAC,gnomAD
rs748794206	p.Leu116Met	missense variant	-	NC_000012.12:g.85283691C>A	ExAC,TOPMed,gnomAD
rs148452184	p.Leu119His	missense variant	-	NC_000012.12:g.85283701T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148452184	p.Leu119Arg	missense variant	-	NC_000012.12:g.85283701T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771647506	p.Gly120Glu	missense variant	-	NC_000012.12:g.85283704G>A	ExAC,TOPMed,gnomAD
rs747368629	p.Asp124Tyr	missense variant	-	NC_000012.12:g.85283715G>T	ExAC,gnomAD
rs1163736275	p.Ser125Arg	missense variant	-	NC_000012.12:g.85283718A>C	gnomAD
rs1347898854	p.Asn126Ser	missense variant	-	NC_000012.12:g.85283722A>G	TOPMed,gnomAD
rs142639950	p.Val127Leu	missense variant	-	NC_000012.12:g.85283724G>C	ESP
rs777173766	p.Val127Ala	missense variant	-	NC_000012.12:g.85283725T>C	ExAC,TOPMed,gnomAD
COSM695581	p.Ser128Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283728C>G	NCI-TCGA Cosmic
rs762173567	p.Ser128Pro	missense variant	-	NC_000012.12:g.85283727T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser128Phe	missense variant	-	NC_000012.12:g.85283728C>T	NCI-TCGA
NCI-TCGA novel	p.Lys131Glu	missense variant	-	NC_000012.12:g.85283736A>G	NCI-TCGA
rs765386152	p.Arg133Gln	missense variant	-	NC_000012.12:g.85283743G>A	NCI-TCGA
rs765386152	p.Arg133Gln	missense variant	-	NC_000012.12:g.85283743G>A	ExAC,gnomAD
rs1374617547	p.His135Tyr	missense variant	-	NC_000012.12:g.85283748C>T	gnomAD
rs1374617547	p.His135Tyr	missense variant	-	NC_000012.12:g.85283748C>T	NCI-TCGA Cosmic
rs1228243856	p.Arg136Ter	stop gained	-	NC_000012.12:g.85283751C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg136Gln	missense variant	-	NC_000012.12:g.85283752G>A	NCI-TCGA
rs1311287299	p.Thr137Ile	missense variant	-	NC_000012.12:g.85283755C>T	gnomAD
rs1008969707	p.Thr138Ile	missense variant	-	NC_000012.12:g.85283758C>T	TOPMed
RCV000502614	p.Thr138Ile	missense variant	-	NC_000012.12:g.85283758C>T	ClinVar
NCI-TCGA novel	p.Phe139Val	missense variant	-	NC_000012.12:g.85283760T>G	NCI-TCGA
rs1273369108	p.Leu142Ser	missense variant	-	NC_000012.12:g.85283770T>C	gnomAD
NCI-TCGA novel	p.Gln143Lys	missense variant	-	NC_000012.12:g.85283772C>A	NCI-TCGA
rs763991137	p.Leu144Arg	missense variant	-	NC_000012.12:g.85283776T>G	ExAC,TOPMed,gnomAD
rs552239444	p.Leu144Val	missense variant	-	NC_000012.12:g.85283775C>G	1000Genomes,ExAC,gnomAD
rs1287504419	p.Glu145Lys	missense variant	-	NC_000012.12:g.85283778G>A	TOPMed
rs753836143	p.Leu147Met	missense variant	-	NC_000012.12:g.85283784C>A	ExAC
rs1470251062	p.Lys149Arg	missense variant	-	NC_000012.12:g.85283791A>G	gnomAD
rs1181179187	p.Lys149Asn	missense variant	-	NC_000012.12:g.85283792A>T	gnomAD
rs1181179187	p.Lys149Asn	missense variant	-	NC_000012.12:g.85283792A>T	NCI-TCGA
rs778492065	p.Lys153Arg	missense variant	-	NC_000012.12:g.85283803A>G	ExAC,TOPMed,gnomAD
rs1312565742	p.Thr154Ala	missense variant	-	NC_000012.12:g.85283805A>G	TOPMed
COSM944116	p.His155Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283809A>G	NCI-TCGA Cosmic
rs1423105126	p.Pro157Leu	missense variant	-	NC_000012.12:g.85283815C>T	gnomAD
NCI-TCGA novel	p.Pro157Ser	missense variant	-	NC_000012.12:g.85283814C>T	NCI-TCGA
COSM6138368	p.Asp158Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283817G>T	NCI-TCGA Cosmic
rs779648569	p.Asp158Val	missense variant	-	NC_000012.12:g.85283818A>T	ExAC,TOPMed,gnomAD
rs779648569	p.Asp158Ala	missense variant	-	NC_000012.12:g.85283818A>C	ExAC,TOPMed,gnomAD
COSM1513428	p.Val159Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283820G>T	NCI-TCGA Cosmic
rs769088038	p.Val159Met	missense variant	-	NC_000012.12:g.85283820G>A	ExAC,TOPMed,gnomAD
rs1160528230	p.Tyr160Phe	missense variant	-	NC_000012.12:g.85283824A>T	TOPMed
NCI-TCGA novel	p.Val161Ala	missense variant	-	NC_000012.12:g.85283827T>C	NCI-TCGA
rs776816728	p.Gln164His	missense variant	-	NC_000012.12:g.85283837G>C	ExAC,gnomAD
rs1234238828	p.Leu165Val	missense variant	-	NC_000012.12:g.85283838C>G	gnomAD
COSM944117	p.Ala166Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283842C>T	NCI-TCGA Cosmic
rs770139268	p.Leu167Gln	missense variant	-	NC_000012.12:g.85283845T>A	ExAC,gnomAD
rs770139268	p.Leu167Pro	missense variant	-	NC_000012.12:g.85283845T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu173Asp	missense variant	-	NC_000012.12:g.85283864G>T	NCI-TCGA
COSM3968472	p.Ala174Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283866C>T	NCI-TCGA Cosmic
rs1437884742	p.Ala174Ser	missense variant	-	NC_000012.12:g.85283865G>T	gnomAD
rs1329804216	p.Trp179Ser	missense variant	-	NC_000012.12:g.85286857G>C	TOPMed
NCI-TCGA novel	p.Trp179Cys	missense variant	-	NC_000012.12:g.85286858G>T	NCI-TCGA
rs150997122	p.Arg183Ter	stop gained	-	NC_000012.12:g.85286868C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1487171239	p.Arg183Gln	missense variant	-	NC_000012.12:g.85286869G>A	gnomAD
rs150997122	p.Arg183Ter	stop gained	-	NC_000012.12:g.85286868C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg184Gly	missense variant	-	NC_000012.12:g.85286871A>G	NCI-TCGA
NCI-TCGA novel	p.Arg184Lys	missense variant	-	NC_000012.12:g.85286872G>A	NCI-TCGA
rs1242874318	p.Trp187Arg	missense variant	-	NC_000012.12:g.85286880T>A	TOPMed,gnomAD
rs1242874318	p.Trp187Arg	missense variant	-	NC_000012.12:g.85286880T>C	TOPMed,gnomAD
rs1048186835	p.Arg190Thr	missense variant	-	NC_000012.12:g.85286890G>C	TOPMed,gnomAD
rs1030258242	p.Arg192His	missense variant	-	NC_000012.12:g.85286896G>A	NCI-TCGA Cosmic
rs778396653	p.Arg192Ser	missense variant	-	NC_000012.12:g.85286895C>A	ExAC,TOPMed,gnomAD
rs1030258242	p.Arg192His	missense variant	-	NC_000012.12:g.85286896G>A	TOPMed,gnomAD
rs778396653	p.Arg192Cys	missense variant	-	NC_000012.12:g.85286895C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg192Leu	missense variant	-	NC_000012.12:g.85286896G>T	NCI-TCGA
rs888180516	p.Gly194Ser	missense variant	-	NC_000012.12:g.85286901G>A	TOPMed
NCI-TCGA novel	p.Gly194Asp	missense variant	-	NC_000012.12:g.85286902G>A	NCI-TCGA
rs758426051	p.Ile196Met	missense variant	-	NC_000012.12:g.85286909A>G	gnomAD
rs1435489604	p.Ile196Val	missense variant	-	NC_000012.12:g.85286907A>G	gnomAD
NCI-TCGA novel	p.Ile196Thr	missense variant	-	NC_000012.12:g.85286908T>C	NCI-TCGA
rs771162169	p.Ala199Ser	missense variant	-	NC_000012.12:g.85286916G>T	ExAC,gnomAD
rs144593505	p.Ala199Val	missense variant	-	NC_000012.12:g.85286917C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144593505	p.Ala199Val	missense variant	-	NC_000012.12:g.85286917C>T	NCI-TCGA,NCI-TCGA Cosmic
rs772128403	p.Ser201Ile	missense variant	-	NC_000012.12:g.85286923G>T	ExAC,gnomAD
rs1435295887	p.Phe203Ser	missense variant	-	NC_000012.12:g.85286929T>C	gnomAD
rs776549338	p.Ala204Gly	missense variant	-	NC_000012.12:g.85286932C>G	ExAC,gnomAD
rs761480438	p.Thr206Ile	missense variant	-	NC_000012.12:g.85286938C>T	ExAC,TOPMed,gnomAD
rs1234441583	p.Tyr207Cys	missense variant	-	NC_000012.12:g.85286941A>G	gnomAD
COSM78867	p.Tyr207Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.85286942T>A	NCI-TCGA Cosmic
rs1252542249	p.Asp208Gly	missense variant	-	NC_000012.12:g.85286944A>G	gnomAD
NCI-TCGA novel	p.Asp208Ala	missense variant	-	NC_000012.12:g.85286944A>C	NCI-TCGA
rs765267498	p.Ile209Val	missense variant	-	NC_000012.12:g.85286946A>G	ExAC,gnomAD
rs1349314317	p.Pro213Ser	missense variant	-	NC_000012.12:g.85286958C>T	TOPMed
rs1284706850	p.Arg214Ser	missense variant	-	NC_000012.12:g.85286963G>C	TOPMed,gnomAD
rs1222363566	p.Asp216Asn	missense variant	-	NC_000012.12:g.85286967G>A	TOPMed
rs998096551	p.Asp216Glu	missense variant	-	NC_000012.12:g.85286969C>A	TOPMed
rs998096551	p.Asp216Glu	missense variant	-	NC_000012.12:g.85286969C>A	NCI-TCGA Cosmic
rs1450877264	p.Ser217Cys	missense variant	-	NC_000012.12:g.85286970A>T	gnomAD
COSM4396258	p.Pro219Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85286976C>T	NCI-TCGA Cosmic
rs765874556	p.Pro219Gln	missense variant	-	NC_000012.12:g.85286977C>A	ExAC,gnomAD
rs1280316639	p.Pro219Ala	missense variant	-	NC_000012.12:g.85286976C>G	TOPMed
rs79870572	p.Ile221Val	missense variant	-	NC_000012.12:g.85301155A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln222Leu	missense variant	-	NC_000012.12:g.85301159A>T	NCI-TCGA
rs758427563	p.Asn223Lys	missense variant	-	NC_000012.12:g.85301163C>A	ExAC,gnomAD
rs780138938	p.Trp226Arg	missense variant	-	NC_000012.12:g.85301170T>A	ExAC,TOPMed,gnomAD
COSM695580	p.Trp226Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301171G>T	NCI-TCGA Cosmic
rs780138938	p.Trp226Gly	missense variant	-	NC_000012.12:g.85301170T>G	ExAC,TOPMed,gnomAD
rs375150228	p.Ala227Thr	missense variant	-	NC_000012.12:g.85301173G>A	NCI-TCGA,NCI-TCGA Cosmic
rs375150228	p.Ala227Thr	missense variant	-	NC_000012.12:g.85301173G>A	ESP,ExAC,TOPMed,gnomAD
rs1335299005	p.Ala227Val	missense variant	-	NC_000012.12:g.85301174C>T	gnomAD
NCI-TCGA novel	p.Gly228Ter	stop gained	-	NC_000012.12:g.85301176G>T	NCI-TCGA
rs1218240167	p.Asn229Tyr	missense variant	-	NC_000012.12:g.85301179A>T	gnomAD
rs768807912	p.Ala230Gly	missense variant	-	NC_000012.12:g.85301183C>G	ExAC,gnomAD
rs960499054	p.Gly232Cys	missense variant	-	NC_000012.12:g.85301188G>T	gnomAD
rs960499054	p.Gly232Ser	missense variant	-	NC_000012.12:g.85301188G>A	gnomAD
rs773047636	p.Gly233Cys	missense variant	-	NC_000012.12:g.85301191G>T	ExAC,TOPMed,gnomAD
rs773047636	p.Gly233Ser	missense variant	-	NC_000012.12:g.85301191G>A	ExAC,TOPMed,gnomAD
rs1006830040	p.Gly233Val	missense variant	-	NC_000012.12:g.85301192G>T	TOPMed
rs770893179	p.Ser234Cys	missense variant	-	NC_000012.12:g.85301195C>G	ExAC,TOPMed,gnomAD
rs1190445275	p.Val235Leu	missense variant	-	NC_000012.12:g.85301197G>C	gnomAD
rs368441255	p.Thr237Ser	missense variant	-	NC_000012.12:g.85301203A>T	ESP,ExAC,TOPMed,gnomAD
rs368441255	p.Thr237Ala	missense variant	-	NC_000012.12:g.85301203A>G	ESP,ExAC,TOPMed,gnomAD
COSM1299926	p.Thr237Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301204C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser238Leu	missense variant	-	NC_000012.12:g.85301207C>T	NCI-TCGA
NCI-TCGA novel	p.Ser238Pro	missense variant	-	NC_000012.12:g.85301206T>C	NCI-TCGA
rs1169478510	p.Met240Val	missense variant	-	NC_000012.12:g.85301212A>G	gnomAD
rs574106917	p.Met240Thr	missense variant	-	NC_000012.12:g.85301213T>C	1000Genomes,ExAC,gnomAD
rs574106917	p.Met240Lys	missense variant	-	NC_000012.12:g.85301213T>A	1000Genomes,ExAC,gnomAD
rs763828906	p.Pro242Arg	missense variant	-	NC_000012.12:g.85301219C>G	ExAC,TOPMed,gnomAD
rs1167995672	p.Arg243Cys	missense variant	-	NC_000012.12:g.85301221C>T	TOPMed,gnomAD
rs116431888	p.Arg243His	missense variant	-	NC_000012.12:g.85301222G>A	1000Genomes,ExAC,TOPMed
rs1401337036	p.Asp244Gly	missense variant	-	NC_000012.12:g.85301225A>G	gnomAD
rs1314737998	p.Thr245Ile	missense variant	-	NC_000012.12:g.85301228C>T	gnomAD
rs757672381	p.Thr245Ala	missense variant	-	NC_000012.12:g.85301227A>G	ExAC,gnomAD
rs1160935853	p.Ser246Ala	missense variant	-	NC_000012.12:g.85301230T>G	TOPMed
rs1421829327	p.Ser246Tyr	missense variant	-	NC_000012.12:g.85301231C>A	TOPMed
rs765645567	p.Cys248Tyr	missense variant	-	NC_000012.12:g.85301237G>A	NCI-TCGA
rs765645567	p.Cys248Tyr	missense variant	-	NC_000012.12:g.85301237G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met249Ile	missense variant	-	NC_000012.12:g.85301241G>A	NCI-TCGA
rs1309522063	p.Thr250Ala	missense variant	-	NC_000012.12:g.85301242A>G	gnomAD
rs1255505998	p.Ser253Pro	missense variant	-	NC_000012.12:g.85301251T>C	gnomAD
rs758870090	p.Ser255Leu	missense variant	-	NC_000012.12:g.85301258C>T	ExAC,TOPMed,gnomAD
rs748246704	p.Pro256Leu	missense variant	-	NC_000012.12:g.85301261C>T	ExAC,TOPMed,gnomAD
COSM695579	p.Arg257Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301263C>G	NCI-TCGA Cosmic
rs921513196	p.Arg257Trp	missense variant	-	NC_000012.12:g.85301263C>T	TOPMed,gnomAD
rs755258550	p.Arg257Pro	missense variant	-	NC_000012.12:g.85301264G>C	ExAC,gnomAD
rs755258550	p.Arg257Gln	missense variant	-	NC_000012.12:g.85301264G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg257Leu	missense variant	-	NC_000012.12:g.85301264G>T	NCI-TCGA
rs781359296	p.Thr258Arg	missense variant	-	NC_000012.12:g.85301267C>G	ExAC
rs1259147934	p.Asp259His	missense variant	-	NC_000012.12:g.85301269G>C	gnomAD
rs1259147934	p.Asp259His	missense variant	-	NC_000012.12:g.85301269G>C	NCI-TCGA Cosmic
rs1488215377	p.Ser261Arg	missense variant	-	NC_000012.12:g.85301277T>G	TOPMed
rs371574280	p.Ser261Thr	missense variant	-	NC_000012.12:g.85301276G>C	ESP,ExAC,TOPMed,gnomAD
rs371574280	p.Ser261Asn	missense variant	-	NC_000012.12:g.85301276G>A	ESP,ExAC,TOPMed,gnomAD
rs749132227	p.Ser261Gly	missense variant	-	NC_000012.12:g.85301275A>G	ExAC
rs1193523802	p.Thr263Ser	missense variant	-	NC_000012.12:g.85301281A>T	gnomAD
rs1432369243	p.Gly264Glu	missense variant	-	NC_000012.12:g.85301285G>A	gnomAD
rs1432369243	p.Gly264Glu	missense variant	-	NC_000012.12:g.85301285G>A	NCI-TCGA
rs1218457637	p.Asn267Ser	missense variant	-	NC_000012.12:g.85301294A>G	TOPMed
rs771991970	p.Gln269His	missense variant	-	NC_000012.12:g.85301301G>C	ExAC,gnomAD
rs1289487472	p.Gln271His	missense variant	-	NC_000012.12:g.85301307G>C	TOPMed
rs533643665	p.Ser273Asn	missense variant	-	NC_000012.12:g.85301312G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val275Met	missense variant	-	NC_000012.12:g.85301317G>A	NCI-TCGA
rs912526043	p.Leu277Phe	missense variant	-	NC_000012.12:g.85301323C>T	gnomAD
rs912526043	p.Leu277Phe	missense variant	-	NC_000012.12:g.85301323C>T	NCI-TCGA Cosmic
rs1357470582	p.Phe280Cys	missense variant	-	NC_000012.12:g.85301333T>G	TOPMed
rs1234091583	p.Phe280Ile	missense variant	-	NC_000012.12:g.85301332T>A	TOPMed
COSM6138367	p.Asp283Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301341G>T	NCI-TCGA Cosmic
rs1276321691	p.Asp283Glu	missense variant	-	NC_000012.12:g.85301343C>G	TOPMed
rs763882178	p.Ser284Phe	missense variant	-	NC_000012.12:g.85301345C>T	ExAC,gnomAD
rs763882178	p.Ser284Cys	missense variant	-	NC_000012.12:g.85301345C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser284Thr	missense variant	-	NC_000012.12:g.85301344T>A	NCI-TCGA
rs1231472422	p.Leu285Pro	missense variant	-	NC_000012.12:g.85301348T>C	gnomAD
rs147059932	p.Leu285Phe	missense variant	-	NC_000012.12:g.85301347C>T	ESP,ExAC,TOPMed,gnomAD
rs147059932	p.Leu285Ile	missense variant	-	NC_000012.12:g.85301347C>A	ESP,ExAC,TOPMed,gnomAD
rs1262848764	p.Leu286Arg	missense variant	-	NC_000012.12:g.85301351T>G	TOPMed,gnomAD
rs1262848764	p.Leu286Pro	missense variant	-	NC_000012.12:g.85301351T>C	TOPMed,gnomAD
rs1290543673	p.Thr287Ala	missense variant	-	NC_000012.12:g.85301353A>G	TOPMed
COSM1299927	p.Thr287Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301354C>T	NCI-TCGA Cosmic
rs531910111	p.Gly288Val	missense variant	-	NC_000012.12:g.85301357G>T	gnomAD
COSM4045208	p.Ala289Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301359G>A	NCI-TCGA Cosmic
rs761513959	p.Ala289Ser	missense variant	-	NC_000012.12:g.85301359G>T	ExAC,TOPMed,gnomAD
rs765521334	p.Thr290Asn	missense variant	-	NC_000012.12:g.85301363C>A	ExAC,gnomAD
rs765521334	p.Thr290Ile	missense variant	-	NC_000012.12:g.85301363C>T	ExAC,gnomAD
rs1266288097	p.Thr290Ser	missense variant	-	NC_000012.12:g.85301362A>T	gnomAD
rs988844987	p.Asn291Ser	missense variant	-	NC_000012.12:g.85301366A>G	TOPMed
NCI-TCGA novel	p.Gly292Arg	missense variant	-	NC_000012.12:g.85301368G>A	NCI-TCGA
rs1395545389	p.His293Pro	missense variant	-	NC_000012.12:g.85301372A>C	gnomAD
rs766904677	p.Ala294Gly	missense variant	-	NC_000012.12:g.85301375C>G	ExAC,gnomAD
rs1156912114	p.Pro299Thr	missense variant	-	NC_000012.12:g.85301389C>A	NCI-TCGA Cosmic
rs1156912114	p.Pro299Thr	missense variant	-	NC_000012.12:g.85301389C>A	gnomAD
rs1346744337	p.Pro299Gln	missense variant	-	NC_000012.12:g.85301390C>A	TOPMed,gnomAD
rs1346744337	p.Pro299Leu	missense variant	-	NC_000012.12:g.85301390C>T	TOPMed,gnomAD
rs751630239	p.Glu300Gln	missense variant	-	NC_000012.12:g.85301392G>C	ExAC,gnomAD
rs1392583898	p.Phe301Ser	missense variant	-	NC_000012.12:g.85301396T>C	gnomAD
rs1293138353	p.Phe301Val	missense variant	-	NC_000012.12:g.85301395T>G	gnomAD
rs1443144887	p.Glu302Gln	missense variant	-	NC_000012.12:g.85301398G>C	TOPMed,gnomAD
rs1443144887	p.Glu302Gln	missense variant	-	NC_000012.12:g.85301398G>C	NCI-TCGA Cosmic
rs755027408	p.Ile308Val	missense variant	-	NC_000012.12:g.85301416A>G	ExAC,gnomAD
rs201582242	p.Ala309Ser	missense variant	-	NC_000012.12:g.85301419G>T	TOPMed
rs201582242	p.Ala309Thr	missense variant	-	NC_000012.12:g.85301419G>A	TOPMed
COSM1182652	p.Arg312Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.85301428C>T	NCI-TCGA Cosmic
COSM695578	p.Arg312Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301429G>A	NCI-TCGA Cosmic
COSM944120	p.Lys314Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301435A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala315Thr	missense variant	-	NC_000012.12:g.85301437G>A	NCI-TCGA
rs756262205	p.Glu317Gln	missense variant	-	NC_000012.12:g.85301443G>C	ExAC,gnomAD
rs79265723	p.His318Arg	missense variant	-	NC_000012.12:g.85301447A>G	NCI-TCGA
rs79265723	p.His318Arg	missense variant	-	NC_000012.12:g.85301447A>G	TOPMed
rs79265723	p.His318Pro	missense variant	-	NC_000012.12:g.85301447A>C	TOPMed
NCI-TCGA novel	p.Ala320Val	missense variant	-	NC_000012.12:g.85301453C>T	NCI-TCGA
NCI-TCGA novel	p.Ala320Thr	missense variant	-	NC_000012.12:g.85301452G>A	NCI-TCGA
rs1246442071	p.Asn321Ser	missense variant	-	NC_000012.12:g.85301456A>G	TOPMed
NCI-TCGA novel	p.Ser323Leu	missense variant	-	NC_000012.12:g.85301462C>T	NCI-TCGA
rs371842650	p.Ala325Pro	missense variant	-	NC_000012.12:g.85301467G>C	ESP,ExAC,TOPMed,gnomAD
rs138244335	p.Met326Val	missense variant	-	NC_000012.12:g.85301470A>G	ESP,ExAC,gnomAD
rs373533707	p.Met326Ile	missense variant	-	NC_000012.12:g.85301472G>A	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0025362	Mental Retardation	disease	HPO
C0026010	Microphthalmos	disease	BEFREE;HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0221356	Brachycephaly	disease	HPO
C0275524	Coinfection	phenotype	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423903	Low intelligence	phenotype	HPO
C0431448	Absent eyebrow	phenotype	HPO
C0432106	Midline facial cleft - Tessier cleft 0	disease	BEFREE
C0578682	Madarosis of eyebrow	disease	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0685787	Cleft face	disease	HPO
C0702169	Acrania	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1843300	Sparse eyelashes	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1860247	Prominent glabella	phenotype	HPO
C1863872	Upper eyelid coloboma	phenotype	HPO
C1876203	Frontonasal dysplasia	disease	BEFREE;CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3150706	FRONTONASAL DYSPLASIA 3	disease	CLINVAR;ORPHANET
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C4020876	Dull intelligence	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4280581	Aplasia of eyebrows	phenotype	HPO
C4280582	Agenesis of eyebrows	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0003714	transcription corepressor activity	TAS
GO:0005515	protein binding	IPI
GO:0042803	protein homodimerization activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001502	cartilage condensation	TAS
GO:0001755	neural crest cell migration	IEA
GO:0001843	neural tube closure	IEA
GO:0006366	transcription by RNA polymerase II	TAS
GO:0007275	multicellular organism development	TAS
GO:0009952	anterior/posterior pattern specification	IEA
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
GO:0030326	embryonic limb morphogenesis	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IBA
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048704	embryonic skeletal system morphogenesis	IBA
GO:0060021	roof of mouth development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005667	transcription factor complex	IEA
GO:0005794	Golgi apparatus	IDA
GO:0016604	nuclear body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 ALX1 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 ALX1 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 ALX1 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 ALX1 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 ALX1 mRNA	27188386
D000079	Acetaldehyde	Acetaldehyde affects the expression of ALX1 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of ALX1 mRNA	26690555
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ALX1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ALX1 mRNA	16483693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ALX1 mRNA	21839799
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ALX1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of ALX1 mRNA	23557687
C006780	bisphenol A	bisphenol A results in increased expression of ALX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased methylation of ALX1 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of ALX1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of ALX1 mRNA	30951980
C054133	casticin	casticin results in decreased expression of ALX1 mRNA	28444820
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of ALX1 mRNA	24763279
D003300	Copper	[Copper co-treated with Dietary Sucrose] results in increased expression of ALX1 mRNA	26033743
D003300	Copper	Copper deficiency results in increased expression of ALX1 mRNA	26033743
D019422	Dietary Sucrose	[Copper co-treated with Dietary Sucrose] results in increased expression of ALX1 mRNA	26033743
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of ALX1 mRNA	26033743
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 ALX1 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 ALX1 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 ALX1 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 ALX1 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 ALX1 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of ALX1 mRNA	23129252
C061365	flusilazole	flusilazole results in increased expression of ALX1 mRNA	28263823
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of ALX1 mRNA	24763279
C000622638	MLN7243	MLN7243 results in increased sumoylation of ALX1 protein	31285264
C028007	nickel monoxide	nickel monoxide results in decreased expression of ALX1 mRNA	19167457
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 ALX1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ALX1 mRNA	26272509
D052638	Particulate Matter	Particulate Matter results in increased expression of ALX1 mRNA	29703138
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 ALX1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of ALX1 mRNA	26272509
D012715	Sesame Oil	Sesame Oil results in increased expression of ALX1 mRNA	29191790
C017947	sodium arsenite	sodium arsenite results in increased expression of ALX1 mRNA	22714537
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of ALX1 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ALX1 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ALX1 mRNA	11752688
D014212	Tretinoin	Tretinoin results in increased expression of ALX1 mRNA	21934132
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 ALX1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ALX1 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 ALX1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ALX1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ALX1 mRNA	23179753; 24383497; 26272509; 28001369;
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of ALX1 gene	25560391
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 ALX1 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of ALX1 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0010	Activator
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR033209	ALX1
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR003654	OAR_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03826	OAR

Gene: ALX1

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