CleftGeneDB-Search

Gene: ALDH1A3

Basic information

Tag	Content
Uniprot ID	P47895; Q6NT64;
Entrez ID	220
Genbank protein ID	AAA79036.1; AAH69274.1;
Genbank nucleotide ID	NM_000693.3; NM_001293815.1;
Ensembl protein ID	ENSP00000332256
Ensembl nucleotide ID	ENSG00000184254
Gene name	Aldehyde dehydrogenase family 1 member A3
Gene symbol	ALDH1A3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).
Sequence	MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI 60 CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM 120 DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW 180 NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV 240 GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE 300 CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK 360 QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL 420 KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF 480 KMSGNGRELG EYALAEYTEV KTVTIKLGDK NP 512

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

PDB ID
5FHZ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ALDH1A3	100856346	E2R543		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ALDH1A3	102179885	A0A452FFP9		Capra hircus	Prediction	More>>
1:1 ortholog	ALDH1A3	100057072	F6Y0Q6		Equus caballus	Prediction	More>>
1:1 ortholog	ALDH1A3	220	P47895		Homo sapiens	Prediction	More>>
1:1 ortholog	Aldh1a3	56847	Q9JHW9	CPO,CLO	Mus musculus	Publication	More>>
1:1 ortholog	ALDH1A3	453686	H2QA58		Pan troglodytes	Prediction	More>>
1:1 ortholog	ALDH1A3		A0A480JMD7		Sus scrofa	Prediction	More>>
1:1 ortholog			G1SU45		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Aldh1a3		A0A0G2JUS6		Rattus norvegicus	Prediction	More>>
1:1 ortholog	aldh1a3	751785	Q0H2G3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1231761763	p.Thr3Ser	missense variant	-	NC_000015.10:g.100879915C>G	gnomAD
rs1231761763	p.Thr3Ile	missense variant	-	NC_000015.10:g.100879915C>T	gnomAD
rs1257833180	p.Ala4Ser	missense variant	-	NC_000015.10:g.100879917G>T	gnomAD
rs990181521	p.Gly6Arg	missense variant	-	NC_000015.10:g.100879923G>C	TOPMed,gnomAD
rs759448819	p.Ala7Pro	missense variant	-	NC_000015.10:g.100879926G>C	ExAC,TOPMed,gnomAD
rs759448819	p.Ala7Ser	missense variant	-	NC_000015.10:g.100879926G>T	ExAC,TOPMed,gnomAD
rs946141965	p.Glu9Gly	missense variant	-	NC_000015.10:g.100879933A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu9Asp	missense variant	-	NC_000015.10:g.100879934A>C	NCI-TCGA
rs946141965	p.Glu9Val	missense variant	-	NC_000015.10:g.100879933A>T	TOPMed,gnomAD
rs1205499955	p.Asn10Lys	missense variant	-	NC_000015.10:g.100879937C>G	TOPMed
rs1041851256	p.Asn10Asp	missense variant	-	NC_000015.10:g.100879935A>G	TOPMed
rs1262223424	p.Gly11Ala	missense variant	-	NC_000015.10:g.100879939G>C	gnomAD
rs1378582128	p.Pro13Arg	missense variant	-	NC_000015.10:g.100879945C>G	TOPMed,gnomAD
rs1432494592	p.Pro13Ser	missense variant	-	NC_000015.10:g.100879944C>T	gnomAD
rs933582510	p.Asp14Asn	missense variant	-	NC_000015.10:g.100879947G>A	TOPMed
rs933582510	p.Asp14Tyr	missense variant	-	NC_000015.10:g.100879947G>T	TOPMed
rs1130737	p.Arg15Gly	missense variant	-	NC_000015.10:g.100879950A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000651064	p.Arg15Gly	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100879950A>G	ClinVar
rs1307594804	p.Arg15Lys	missense variant	-	NC_000015.10:g.100879951G>A	TOPMed
rs1396346512	p.Lys16Glu	missense variant	-	NC_000015.10:g.100879953A>G	gnomAD
rs878949825	p.Pro17Leu	missense variant	-	NC_000015.10:g.100879957C>T	TOPMed
rs1434812610	p.Pro17Ser	missense variant	-	NC_000015.10:g.100879956C>T	gnomAD
rs1372443023	p.Pro18Ala	missense variant	-	NC_000015.10:g.100879959C>G	TOPMed
rs1301191364	p.Pro18Arg	missense variant	-	NC_000015.10:g.100879960C>G	TOPMed
rs888762943	p.Leu20Val	missense variant	-	NC_000015.10:g.100879965C>G	TOPMed
rs1178227946	p.Pro21Arg	missense variant	-	NC_000015.10:g.100879969C>G	TOPMed
rs1005917805	p.Arg22Pro	missense variant	-	NC_000015.10:g.100879972G>C	TOPMed,gnomAD
rs1005917805	p.Arg22His	missense variant	-	NC_000015.10:g.100879972G>A	TOPMed,gnomAD
rs1367431064	p.Ile24Thr	missense variant	-	NC_000015.10:g.100879978T>C	TOPMed,gnomAD
rs1385585676	p.Ile24Met	missense variant	-	NC_000015.10:g.100879979C>G	gnomAD
rs1348601584	p.Arg25His	missense variant	-	NC_000015.10:g.100879981G>A	gnomAD
rs1306289893	p.Arg25Gly	missense variant	-	NC_000015.10:g.100879980C>G	gnomAD
rs1464920497	p.Asn26His	missense variant	-	NC_000015.10:g.100879983A>C	TOPMed,gnomAD
rs1199364536	p.Glu28Lys	missense variant	-	NC_000015.10:g.100879989G>A	TOPMed
rs573413093	p.Val29Ile	missense variant	-	NC_000015.10:g.100879992G>A	1000Genomes
rs1284083379	p.Phe31Tyr	missense variant	-	NC_000015.10:g.100879999T>A	TOPMed,gnomAD
COSM1323739	p.Lys33Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100880006G>C	NCI-TCGA Cosmic
rs1216823046	p.Lys33Arg	missense variant	-	NC_000015.10:g.100880005A>G	gnomAD
rs776335874	p.Ile36Val	missense variant	-	NC_000015.10:g.100885273A>G	ExAC,gnomAD
rs745641363	p.Asn37Ser	missense variant	-	NC_000015.10:g.100885277A>G	ExAC,gnomAD
rs745641363	p.Asn37Ile	missense variant	-	NC_000015.10:g.100885277A>T	ExAC,gnomAD
rs2229182	p.His41Gln	missense variant	-	NC_000015.10:g.100885290C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775523430	p.Glu42Lys	missense variant	-	NC_000015.10:g.100885291G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu42AsnPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.100885291G>-	NCI-TCGA
rs182607536	p.Glu42Ala	missense variant	-	NC_000015.10:g.100885292A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs767590571	p.Lys44Arg	missense variant	-	NC_000015.10:g.100885298A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys44Asn	missense variant	-	NC_000015.10:g.100885299G>T	NCI-TCGA
NCI-TCGA novel	p.Lys44Asn	missense variant	-	NC_000015.10:g.100885299G>C	NCI-TCGA
rs1385170528	p.Ser45Ile	missense variant	-	NC_000015.10:g.100885301G>T	TOPMed
COSM1128151	p.Lys47Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100885306A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr51Ile	missense variant	-	NC_000015.10:g.100885319C>T	NCI-TCGA
rs760946044	p.Thr51Ala	missense variant	-	NC_000015.10:g.100885318A>G	ExAC,gnomAD
rs370256420	p.Cys52Phe	missense variant	-	NC_000015.10:g.100885322G>T	ESP,ExAC,gnomAD
rs531080485	p.Arg57Trp	missense variant	-	NC_000015.10:g.100885336C>T	1000Genomes
rs141876599	p.Arg57Pro	missense variant	-	NC_000015.10:g.100885337G>C	ESP,ExAC,TOPMed,gnomAD
rs141876599	p.Arg57Gln	missense variant	-	NC_000015.10:g.100885337G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu58Lys	missense variant	-	NC_000015.10:g.100885339G>A	NCI-TCGA
rs1257789745	p.Ile60Met	missense variant	-	NC_000015.10:g.100885347A>G	gnomAD
rs753250374	p.Cys61Ser	missense variant	-	NC_000015.10:g.100885349G>C	ExAC,gnomAD
rs1191459372	p.Glu62Ter	stop gained	-	NC_000015.10:g.100885351G>T	TOPMed,gnomAD
rs1191459372	p.Glu62Lys	missense variant	-	NC_000015.10:g.100885351G>A	TOPMed,gnomAD
rs1191459372	p.Glu62Gln	missense variant	-	NC_000015.10:g.100885351G>C	TOPMed,gnomAD
RCV000597126	p.Glu62Ter	nonsense	-	NC_000015.10:g.100885351G>T	ClinVar
rs758966858	p.Val63Leu	missense variant	-	NC_000015.10:g.100885354G>T	ExAC,gnomAD
rs758966858	p.Val63Leu	missense variant	-	NC_000015.10:g.100885354G>T	NCI-TCGA
rs386834230	p.Val71Met	missense variant	-	NC_000015.10:g.100887578G>A	TOPMed
rs386834230	p.Val71Met	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887578G>A	UniProt,dbSNP
VAR_072332	p.Val71Met	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887578G>A	UniProt
RCV000128477	p.Val71Met	missense variant	-	NC_000015.10:g.100887578G>A	ClinVar
rs752987966	p.Lys73Gln	missense variant	-	NC_000015.10:g.100887584A>C	ExAC,gnomAD
rs1043418205	p.Ala78Thr	missense variant	-	NC_000015.10:g.100887599G>A	TOPMed,gnomAD
COSM3499710	p.Ala81Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100887608G>A	NCI-TCGA Cosmic
rs369355060	p.Arg84Gly	missense variant	-	NC_000015.10:g.100887617A>G	ESP,TOPMed
rs763601560	p.Gly85Ser	missense variant	-	NC_000015.10:g.100887620G>A	ExAC,TOPMed,gnomAD
COSM1244814	p.Ser86Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100887624C>T	NCI-TCGA Cosmic
rs1368725893	p.Trp88Ser	missense variant	-	NC_000015.10:g.100887630G>C	gnomAD
rs780514656	p.Arg89Pro	missense variant	-	NC_000015.10:g.100887633G>C	ExAC,TOPMed,gnomAD
rs397514652	p.Arg89Cys	missense variant	-	NC_000015.10:g.100887632C>T	NCI-TCGA,NCI-TCGA Cosmic
rs397514652	p.Arg89Cys	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887632C>T	UniProt,dbSNP
VAR_069322	p.Arg89Cys	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887632C>T	UniProt
rs397514652	p.Arg89Cys	missense variant	-	NC_000015.10:g.100887632C>T	ExAC,TOPMed,gnomAD
rs780514656	p.Arg89His	missense variant	-	NC_000015.10:g.100887633G>A	ExAC,TOPMed,gnomAD
RCV000033221	p.Arg89Cys	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100887632C>T	ClinVar
rs750097418	p.Arg90Gln	missense variant	-	NC_000015.10:g.100887636G>A	ExAC,TOPMed,gnomAD
rs1375594080	p.Arg90Trp	missense variant	-	NC_000015.10:g.100887635C>T	gnomAD
rs1351802284	p.Asp92Gly	missense variant	-	NC_000015.10:g.100887642A>G	gnomAD
rs1442316583	p.Ala93Ser	missense variant	-	NC_000015.10:g.100887644G>T	gnomAD
rs779960062	p.Arg96Cys	missense variant	-	NC_000015.10:g.100887653C>T	ExAC,gnomAD
rs1470193684	p.Arg96His	missense variant	-	NC_000015.10:g.100887654G>A	gnomAD
rs1211562776	p.Gly97Glu	missense variant	-	NC_000015.10:g.100887657G>A	TOPMed
rs199537142	p.Arg98Trp	missense variant	-	NC_000015.10:g.100887659C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199537142	p.Arg98Trp	missense variant	-	NC_000015.10:g.100887659C>T	ESP,gnomAD
rs879212373	p.Arg98Gln	missense variant	-	NC_000015.10:g.100887660G>A	TOPMed,gnomAD
rs768621637	p.Glu108Lys	missense variant	-	NC_000015.10:g.100887689G>A	ExAC,gnomAD
rs1392105920	p.Arg111Cys	missense variant	-	NC_000015.10:g.100887698C>T	gnomAD
rs370671214	p.Ala112Thr	missense variant	-	NC_000015.10:g.100887701G>A	ESP,ExAC,TOPMed,gnomAD
rs776567475	p.Thr113Ala	missense variant	-	NC_000015.10:g.100887704A>G	ExAC,TOPMed,gnomAD
rs1389212248	p.Thr113Ser	missense variant	-	NC_000015.10:g.100887705C>G	gnomAD
NCI-TCGA novel	p.Leu114Phe	missense variant	-	NC_000015.10:g.100887709G>T	NCI-TCGA
rs1330418184	p.Ala115Thr	missense variant	-	NC_000015.10:g.100887710G>A	gnomAD
rs1310107329	p.Ala116Thr	missense variant	-	NC_000015.10:g.100892510G>A	TOPMed,gnomAD
rs1188366940	p.Thr119Met	missense variant	-	NC_000015.10:g.100892520C>T	gnomAD
rs1376580832	p.Met120Thr	missense variant	-	NC_000015.10:g.100892523T>C	TOPMed
rs1426662625	p.Met120Val	missense variant	-	NC_000015.10:g.100892522A>G	gnomAD
rs775873830	p.Asp121Asn	missense variant	-	NC_000015.10:g.100892525G>A	ExAC,gnomAD
rs1373091248	p.Thr122Ala	missense variant	-	NC_000015.10:g.100892528A>G	TOPMed,gnomAD
rs769150775	p.Phe126Leu	missense variant	-	NC_000015.10:g.100892540T>C	ExAC,gnomAD
COSM959587	p.Phe126Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892541T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe126Ile	missense variant	-	NC_000015.10:g.100892540T>A	NCI-TCGA
rs1434999709	p.Leu127Phe	missense variant	-	NC_000015.10:g.100892543C>T	gnomAD
NCI-TCGA novel	p.His128Asp	missense variant	-	NC_000015.10:g.100892546C>G	NCI-TCGA
NCI-TCGA novel	p.His128Pro	missense variant	-	NC_000015.10:g.100892547A>C	NCI-TCGA
NCI-TCGA novel	p.Phe130Cys	missense variant	-	NC_000015.10:g.100892553T>G	NCI-TCGA
rs1384362141	p.Phe131Ser	missense variant	-	NC_000015.10:g.100892556T>C	gnomAD
rs142560469	p.Ile132Val	missense variant	-	NC_000015.10:g.100892558A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile132HisPheSerTerUnk	frameshift	-	NC_000015.10:g.100892550_100892551insT	NCI-TCGA
rs772819081	p.Asp133Asn	missense variant	-	NC_000015.10:g.100892561G>A	ExAC,gnomAD
rs1282628739	p.Asp133Glu	missense variant	-	NC_000015.10:g.100892563C>A	gnomAD
rs1437673020	p.Glu135Asp	missense variant	-	NC_000015.10:g.100892569G>C	TOPMed
NCI-TCGA novel	p.Glu135Asp	missense variant	-	NC_000015.10:g.100892569G>T	NCI-TCGA
rs373337351	p.Glu135Lys	missense variant	-	NC_000015.10:g.100892567G>A	ESP
rs765816810	p.Thr140Ser	missense variant	-	NC_000015.10:g.100892583C>G	ExAC,gnomAD
rs200486213	p.Phe144Tyr	missense variant	-	NC_000015.10:g.100892595T>A	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Phe144Ser	missense variant	-	NC_000015.10:g.100892595T>C	NCI-TCGA
rs754619607	p.Ala145Val	missense variant	-	NC_000015.10:g.100892598C>T	ExAC,gnomAD
rs754619607	p.Ala145Val	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100892598C>T	UniProt,dbSNP
VAR_069323	p.Ala145Val	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100892598C>T	UniProt
COSM3401585	p.Gly146Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892600G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly146Val	missense variant	-	NC_000015.10:g.100892601G>T	NCI-TCGA
COSM4053448	p.Trp147Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892603T>C	NCI-TCGA Cosmic
rs1262377795	p.Trp147Ter	stop gained	-	NC_000015.10:g.100892604G>A	gnomAD
rs765072555	p.Ala148Ser	missense variant	-	NC_000015.10:g.100892606G>T	ExAC,TOPMed,gnomAD
rs765072555	p.Ala148Thr	missense variant	-	NC_000015.10:g.100892606G>A	ExAC,TOPMed,gnomAD
rs918956199	p.Asp149Glu	missense variant	-	NC_000015.10:g.100892611C>A	gnomAD
rs201931276	p.Thr155Ser	missense variant	-	NC_000015.10:g.100892628C>G	1000Genomes,ExAC,gnomAD
rs113686214	p.Ile156Val	missense variant	-	NC_000015.10:g.100892630A>G	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Ile156Ser	missense variant	-	NC_000015.10:g.100892631T>G	NCI-TCGA
COSM1375677	p.Asp159Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892639G>T	NCI-TCGA Cosmic
rs753948027	p.Asp159Glu	missense variant	-	NC_000015.10:g.100892946T>G	ExAC,TOPMed,gnomAD
rs538933495	p.Val162Ala	missense variant	-	NC_000015.10:g.100892954T>C	1000Genomes
rs748353857	p.Val162Ile	missense variant	-	NC_000015.10:g.100892953G>A	ExAC,TOPMed,gnomAD
rs150542846	p.Val163Leu	missense variant	-	NC_000015.10:g.100892956G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150542846	p.Val163Met	missense variant	-	NC_000015.10:g.100892956G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM554357	p.Phe165Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892962T>A	NCI-TCGA Cosmic
rs1333967844	p.Thr166Ile	missense variant	-	NC_000015.10:g.100892966C>T	gnomAD
rs1320921361	p.His168Tyr	missense variant	-	NC_000015.10:g.100892971C>T	TOPMed
rs776156229	p.His168Arg	missense variant	-	NC_000015.10:g.100892972A>G	ExAC,gnomAD
rs769240976	p.Pro170Ala	missense variant	-	NC_000015.10:g.100892977C>G	ExAC,gnomAD
rs769240976	p.Pro170Ser	missense variant	-	NC_000015.10:g.100892977C>T	ExAC,gnomAD
rs763866352	p.Ile171Thr	missense variant	-	NC_000015.10:g.100892981T>C	ExAC,TOPMed,gnomAD
VAR_072333	p.Cys174Tyr	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
rs1165860288	p.Thr178Ile	missense variant	-	NC_000015.10:g.100893002C>T	TOPMed
COSM3815661	p.Trp180Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100893955G>A	NCI-TCGA Cosmic
rs747235458	p.Phe182Leu	missense variant	-	NC_000015.10:g.100893960T>C	TOPMed
rs747235458	p.Phe182Val	missense variant	-	NC_000015.10:g.100893960T>G	TOPMed
rs774058525	p.Phe182Leu	missense variant	-	NC_000015.10:g.100893962C>G	ExAC,gnomAD
rs747235458	p.Phe182Ile	missense variant	-	NC_000015.10:g.100893960T>A	TOPMed
rs1185347047	p.Pro183Ser	missense variant	-	NC_000015.10:g.100893963C>T	gnomAD
COSM4053450	p.Leu187Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100893975C>A	NCI-TCGA Cosmic
rs773297753	p.Ala194Thr	missense variant	-	NC_000015.10:g.100893996G>A	ExAC,TOPMed,gnomAD
rs1363406619	p.Cys197Tyr	missense variant	-	NC_000015.10:g.100894006G>A	gnomAD
NCI-TCGA novel	p.Cys197Trp	missense variant	-	NC_000015.10:g.100894007T>G	NCI-TCGA
rs374423113	p.Gly198Arg	missense variant	-	NC_000015.10:g.100894008G>A	ESP,ExAC,TOPMed,gnomAD
rs758588507	p.Thr200Ala	missense variant	-	NC_000015.10:g.100894014A>G	ExAC,gnomAD
rs1279770496	p.Gln208Glu	missense variant	-	NC_000015.10:g.100894038C>G	gnomAD
rs371736673	p.Ala213Thr	missense variant	-	NC_000015.10:g.100894053G>A	ESP,ExAC,TOPMed,gnomAD
rs746443493	p.Leu216Val	missense variant	-	NC_000015.10:g.100894062C>G	ExAC,gnomAD
rs371815578	p.Gly217Ser	missense variant	-	NC_000015.10:g.100894065G>A	ESP,ExAC,TOPMed,gnomAD
rs768011838	p.Ser218Phe	missense variant	-	NC_000015.10:g.100894069C>T	ExAC,gnomAD
rs1039557539	p.Glu222Asp	missense variant	-	NC_000015.10:g.100894082G>T	TOPMed,gnomAD
COSM3420174	p.Glu222Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100894080G>T	NCI-TCGA Cosmic
rs774076435	p.Glu222Gly	missense variant	-	NC_000015.10:g.100894081A>G	ExAC,TOPMed,gnomAD
rs1330255150	p.Ala223Ser	missense variant	-	NC_000015.10:g.100895933G>T	gnomAD
rs377673187	p.Gly224Arg	missense variant	-	NC_000015.10:g.100895936G>A	ESP,ExAC,gnomAD
COSM3886693	p.Pro226Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100895942C>T	NCI-TCGA Cosmic
rs1408573428	p.Pro227Thr	missense variant	-	NC_000015.10:g.100895945C>A	TOPMed
rs1210490747	p.Val229Ala	missense variant	-	NC_000015.10:g.100895952T>C	gnomAD
rs1249962025	p.Val230Met	missense variant	-	NC_000015.10:g.100895954G>A	gnomAD
rs1184323924	p.Ile232Val	missense variant	-	NC_000015.10:g.100895960A>G	gnomAD
rs1253636239	p.Gly235Ala	missense variant	-	NC_000015.10:g.100895970G>C	gnomAD
rs141807607	p.Phe236Leu	missense variant	-	NC_000015.10:g.100895974C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1164081840	p.Gly237Arg	missense variant	-	NC_000015.10:g.100895975G>A	TOPMed,gnomAD
rs768844900	p.Pro238Arg	missense variant	-	NC_000015.10:g.100895979C>G	ExAC
rs762074128	p.Val240Ala	missense variant	-	NC_000015.10:g.100895985T>C	ExAC,TOPMed,gnomAD
rs750607041	p.Gly241Arg	missense variant	-	NC_000015.10:g.100895987G>A	ExAC,gnomAD
rs766595446	p.Ser245Tyr	missense variant	-	NC_000015.10:g.100896000C>A	ExAC,gnomAD
rs754376404	p.His247Tyr	missense variant	-	NC_000015.10:g.100896005C>T	ExAC,gnomAD
rs1007040444	p.Pro248Ser	missense variant	-	NC_000015.10:g.100896008C>T	TOPMed
rs1007040444	p.Pro248Ala	missense variant	-	NC_000015.10:g.100896008C>G	TOPMed
COSM6141658	p.Gln249His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100896013G>T	NCI-TCGA Cosmic
rs542329656	p.Gln249Arg	missense variant	-	NC_000015.10:g.100896012A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asn251Asp	missense variant	-	NC_000015.10:g.100896017A>G	NCI-TCGA
rs757942198	p.Lys252Glu	missense variant	-	NC_000015.10:g.100896020A>G	ExAC,gnomAD
rs777590260	p.Ile253Met	missense variant	-	NC_000015.10:g.100896025C>G	ExAC,TOPMed,gnomAD
rs746580920	p.Ala254Thr	missense variant	-	NC_000015.10:g.100896026G>A	ExAC,gnomAD
rs780841932	p.Thr256Ser	missense variant	-	NC_000015.10:g.100896033C>G	ExAC,gnomAD
rs563737845	p.Thr256Ala	missense variant	-	NC_000015.10:g.100896032A>G	1000Genomes,ExAC,gnomAD
rs1464928654	p.Gly257Ser	missense variant	-	NC_000015.10:g.100896035G>A	TOPMed
rs1186920713	p.Ser258Thr	missense variant	-	NC_000015.10:g.100896038T>A	gnomAD
rs1425470624	p.Thr259Lys	missense variant	-	NC_000015.10:g.100896042C>A	gnomAD
rs1354785586	p.Glu260Val	missense variant	-	NC_000015.10:g.100896045A>T	TOPMed
NCI-TCGA novel	p.Glu260Asp	missense variant	-	NC_000015.10:g.100896046G>C	NCI-TCGA
rs1383412781	p.Lys263Asn	missense variant	-	NC_000015.10:g.100898091A>T	gnomAD
NCI-TCGA novel	p.Lys263Gln	missense variant	-	NC_000015.10:g.100898089A>C	NCI-TCGA
rs1437983551	p.Leu264Arg	missense variant	-	NC_000015.10:g.100898093T>G	TOPMed,gnomAD
rs539827030	p.Ala269Val	missense variant	-	NC_000015.10:g.100898108C>T	1000Genomes,ExAC,gnomAD
rs147665432	p.Arg271Gln	missense variant	-	NC_000015.10:g.100898114G>A	ESP,ExAC,TOPMed,gnomAD
rs771026331	p.Arg271Trp	missense variant	-	NC_000015.10:g.100898113C>T	ExAC,gnomAD
rs147665432	p.Arg271Pro	missense variant	-	NC_000015.10:g.100898114G>C	ESP,ExAC,TOPMed,gnomAD
rs765639453	p.Asn273Ser	missense variant	-	NC_000015.10:g.100898120A>G	ExAC,TOPMed,gnomAD
rs776141464	p.Arg276Gly	missense variant	-	NC_000015.10:g.100898128C>G	ExAC,gnomAD
rs763546758	p.Arg276Pro	missense variant	-	NC_000015.10:g.100898129G>C	ExAC,TOPMed,gnomAD
rs763546758	p.Arg276Gln	missense variant	-	NC_000015.10:g.100898129G>A	ExAC,TOPMed,gnomAD
COSM4053452	p.Val277Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100898132T>A	NCI-TCGA Cosmic
rs567004839	p.Thr278Met	missense variant	-	NC_000015.10:g.100898135C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1422581541	p.Leu281Pro	missense variant	-	NC_000015.10:g.100898144T>C	TOPMed
rs547918064	p.Gly282Val	missense variant	-	NC_000015.10:g.100898147G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767109721	p.Gly282Trp	missense variant	-	NC_000015.10:g.100898146G>T	ExAC,TOPMed,gnomAD
rs547918064	p.Gly282Ala	missense variant	-	NC_000015.10:g.100898147G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs767109721	p.Gly282Arg	missense variant	-	NC_000015.10:g.100898146G>C	ExAC,TOPMed,gnomAD
rs767109721	p.Gly282Arg	missense variant	-	NC_000015.10:g.100898146G>A	ExAC,TOPMed,gnomAD
rs547918064	p.Gly282Glu	missense variant	-	NC_000015.10:g.100898147G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000493670	p.Gly282Glu	missense variant	-	NC_000015.10:g.100898147G>A	ClinVar
rs749291480	p.Gly283Arg	missense variant	-	NC_000015.10:g.100898149G>A	ExAC,gnomAD
rs931629498	p.Lys284Met	missense variant	-	NC_000015.10:g.100898153A>T	TOPMed,gnomAD
COSM1375680	p.Lys284ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100898145G>-	NCI-TCGA Cosmic
rs931629498	p.Lys284Arg	missense variant	-	NC_000015.10:g.100898153A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro286Arg	missense variant	-	NC_000015.10:g.100898159C>G	NCI-TCGA
rs1393774987	p.Cys287Gly	missense variant	-	NC_000015.10:g.100898161T>G	gnomAD
rs776731020	p.Ile288Val	missense variant	-	NC_000015.10:g.100898164A>G	ExAC,gnomAD
rs746016250	p.Val289Leu	missense variant	-	NC_000015.10:g.100898167G>C	ExAC,TOPMed,gnomAD
rs746016250	p.Val289Met	missense variant	-	NC_000015.10:g.100898167G>A	ExAC,TOPMed,gnomAD
rs770345049	p.Ala291Val	missense variant	-	NC_000015.10:g.100898174C>T	ExAC,TOPMed,gnomAD
COSM433592	p.Asp292Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100898178C>G	NCI-TCGA Cosmic
rs1226878041	p.Asp292Asn	missense variant	-	NC_000015.10:g.100898176G>A	TOPMed
rs1036217972	p.Ala293Thr	missense variant	-	NC_000015.10:g.100898179G>A	gnomAD
rs1247389136	p.Ala293Gly	missense variant	-	NC_000015.10:g.100898180C>G	TOPMed,gnomAD
rs1409489382	p.Asp296Asn	missense variant	-	NC_000015.10:g.100900577G>A	gnomAD
rs1168542297	p.Asp296Glu	missense variant	-	NC_000015.10:g.100900579C>A	gnomAD
rs774736590	p.Glu300Val	missense variant	-	NC_000015.10:g.100900590A>T	ExAC,gnomAD
rs373643477	p.His303Tyr	missense variant	-	NC_000015.10:g.100900598C>T	ESP,ExAC,gnomAD
rs771549607	p.His303Gln	missense variant	-	NC_000015.10:g.100900600T>G	ExAC,gnomAD
rs772696922	p.Gln304Arg	missense variant	-	NC_000015.10:g.100900602A>G	ExAC,gnomAD
rs918504278	p.Gly305Ala	missense variant	-	NC_000015.10:g.100900605G>C	TOPMed
rs575483102	p.Phe308Val	missense variant	-	NC_000015.10:g.100900613T>G	1000Genomes
rs1285915498	p.Gln312Arg	missense variant	-	NC_000015.10:g.100900626A>G	gnomAD
rs760371405	p.Cys314Ser	missense variant	-	NC_000015.10:g.100900632G>C	ExAC,gnomAD
rs1358926550	p.Thr315Met	missense variant	-	NC_000015.10:g.100900635C>T	TOPMed
rs1294814835	p.Ala316Thr	missense variant	-	NC_000015.10:g.100900637G>A	gnomAD
NCI-TCGA novel	p.Val320GlyPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.100900646_100900647insG	NCI-TCGA
NCI-TCGA novel	p.Val322Met	missense variant	-	NC_000015.10:g.100900655G>A	NCI-TCGA
rs61624077	p.Glu323Gln	missense variant	-	NC_000015.10:g.100900658G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs991644861	p.Glu324Asp	missense variant	-	NC_000015.10:g.100900663G>C	TOPMed
rs991644861	p.Glu324Asp	missense variant	-	NC_000015.10:g.100900663G>T	TOPMed
rs1441057852	p.Gln325Glu	missense variant	-	NC_000015.10:g.100900664C>G	TOPMed,gnomAD
rs1441057852	p.Gln325Ter	stop gained	-	NC_000015.10:g.100900664C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser334Thr	missense variant	-	NC_000015.10:g.100900692G>C	NCI-TCGA
rs923605749	p.Val335Met	missense variant	-	NC_000015.10:g.100900694G>A	TOPMed,gnomAD
rs750497481	p.Val335Ala	missense variant	-	NC_000015.10:g.100900695T>C	ExAC
rs756225681	p.Glu336Gln	missense variant	-	NC_000015.10:g.100900697G>C	ExAC,gnomAD
rs756225681	p.Glu336Lys	missense variant	-	NC_000015.10:g.100900697G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala338Asp	missense variant	-	NC_000015.10:g.100900704C>A	NCI-TCGA
NCI-TCGA novel	p.Ala338Thr	missense variant	-	NC_000015.10:g.100900703G>A	NCI-TCGA
rs1394208472	p.Lys339Arg	missense variant	-	NC_000015.10:g.100900707A>G	TOPMed,gnomAD
COSM959595	p.Arg341Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900713G>T	NCI-TCGA Cosmic
rs780448831	p.Arg341Trp	missense variant	-	NC_000015.10:g.100900712C>T	ExAC,gnomAD
rs779331334	p.Val343Met	missense variant	-	NC_000015.10:g.100900718G>A	ExAC,TOPMed,gnomAD
rs934989624	p.Asp345Tyr	missense variant	-	NC_000015.10:g.100900724G>T	TOPMed
rs1431782689	p.Pro346Thr	missense variant	-	NC_000015.10:g.100900727C>A	TOPMed
rs772610695	p.Asp348Asn	missense variant	-	NC_000015.10:g.100900733G>A	ExAC,TOPMed,gnomAD
rs772610695	p.Asp348Tyr	missense variant	-	NC_000015.10:g.100900733G>T	ExAC,TOPMed,gnomAD
rs1460856851	p.Val349Gly	missense variant	-	NC_000015.10:g.100900737T>G	TOPMed
rs1054126472	p.Val349Ile	missense variant	-	NC_000015.10:g.100900736G>A	TOPMed
rs772750332	p.Gln353Arg	missense variant	-	NC_000015.10:g.100900749A>G	ExAC,gnomAD
COSM4053453	p.Gly354Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900752G>T	NCI-TCGA Cosmic
COSM259383	p.Pro355Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900755C>T	NCI-TCGA Cosmic
VAR_072334	p.Pro355Arg	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
rs1302281118	p.Gln356Pro	missense variant	-	NC_000015.10:g.100900758A>C	gnomAD
rs1324691550	p.Ile357Thr	missense variant	-	NC_000015.10:g.100905524T>C	gnomAD
NCI-TCGA novel	p.Asp358His	missense variant	-	NC_000015.10:g.100905526G>C	NCI-TCGA
NCI-TCGA novel	p.Gln359Ter	stop gained	-	NC_000015.10:g.100905529C>T	NCI-TCGA
rs187280010	p.Phe362Leu	missense variant	-	NC_000015.10:g.100905540C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs141839784	p.Asp363His	missense variant	-	NC_000015.10:g.100905541G>C	ESP,ExAC,TOPMed,gnomAD
rs141839784	p.Asp363Asn	missense variant	-	NC_000015.10:g.100905541G>A	ESP,ExAC,TOPMed,gnomAD
rs758652233	p.Ile365Val	missense variant	-	NC_000015.10:g.100905547A>G	ExAC,gnomAD
rs1016363724	p.Leu368Pro	missense variant	-	NC_000015.10:g.100905557T>C	TOPMed
VAR_069324	p.Ile369Phe	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
rs146286322	p.Glu370Lys	missense variant	-	NC_000015.10:g.100905562G>A	ESP,ExAC,gnomAD
rs1330483619	p.Ser371Thr	missense variant	-	NC_000015.10:g.100905566G>C	gnomAD
rs1213108723	p.Lys374Thr	missense variant	-	NC_000015.10:g.100905575A>C	gnomAD
NCI-TCGA novel	p.Gly376Arg	missense variant	-	NC_000015.10:g.100905580G>A	NCI-TCGA
rs1265436350	p.Lys378Glu	missense variant	-	NC_000015.10:g.100905586A>G	gnomAD
rs113661159	p.Cys381Trp	missense variant	-	NC_000015.10:g.100905597C>G	ESP,TOPMed,gnomAD
rs1199864354	p.Gly382Trp	missense variant	-	NC_000015.10:g.100905598G>T	gnomAD
VAR_072335	p.Gly382Arg	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
rs769454022	p.Gly383Asp	missense variant	-	NC_000015.10:g.100905602G>A	ExAC,gnomAD
rs3803430	p.Met386Val	missense variant	-	NC_000015.10:g.100905610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762831163	p.Met386Thr	missense variant	-	NC_000015.10:g.100905611T>C	ExAC,TOPMed,gnomAD
RCV000251319	p.Met386Val	missense variant	-	NC_000015.10:g.100905610A>G	ClinVar
rs774438420	p.Lys389Asn	missense variant	-	NC_000015.10:g.100905621G>C	ExAC,gnomAD
rs376953636	p.Lys389Gln	missense variant	-	NC_000015.10:g.100905619A>C	ESP,ExAC,gnomAD
rs1323841997	p.Ile393Val	missense variant	-	NC_000015.10:g.100905631A>G	gnomAD
rs1335492936	p.Lys394Gln	missense variant	-	NC_000015.10:g.100905634A>C	gnomAD
rs1408365041	p.Val397Phe	missense variant	-	NC_000015.10:g.100905643G>T	gnomAD
rs770610190	p.Arg406Gln	missense variant	-	NC_000015.10:g.100905671G>A	TOPMed,gnomAD
rs957737907	p.Arg406Trp	missense variant	-	NC_000015.10:g.100905670C>T	TOPMed,gnomAD
rs753936013	p.Lys409Arg	missense variant	-	NC_000015.10:g.100905680A>G	ExAC,gnomAD
rs753936013	p.Lys409Thr	missense variant	-	NC_000015.10:g.100905680A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu410Asp	missense variant	-	NC_000015.10:g.100905684G>T	NCI-TCGA
VAR_072336	p.Glu411Lys	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
COSM4053454	p.Ile412Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907123T>G	NCI-TCGA Cosmic
rs1391125701	p.Ile412Leu	missense variant	-	NC_000015.10:g.100907121A>C	gnomAD
rs1256486119	p.Gly414Ala	missense variant	-	NC_000015.10:g.100907128G>C	TOPMed,gnomAD
rs755655303	p.Val416Met	missense variant	-	NC_000015.10:g.100907133G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu420Met	missense variant	-	NC_000015.10:g.100907145C>A	NCI-TCGA
COSM433593	p.Phe422Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907153C>G	NCI-TCGA Cosmic
rs749007363	p.Lys423Arg	missense variant	-	NC_000015.10:g.100907155A>G	ExAC,TOPMed,gnomAD
rs201386727	p.Lys423Glu	missense variant	-	NC_000015.10:g.100907154A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768405140	p.Ser424Gly	missense variant	-	NC_000015.10:g.100907157A>G	ExAC,gnomAD
rs778895472	p.Ser424Asn	missense variant	-	NC_000015.10:g.100907158G>A	ExAC,TOPMed,gnomAD
rs747991447	p.Glu426Lys	missense variant	-	NC_000015.10:g.100907163G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val428Met	missense variant	-	NC_000015.10:g.100907169G>A	NCI-TCGA
COSM4838782	p.Lys430Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907176A>C	NCI-TCGA Cosmic
rs375918217	p.Ala432Val	missense variant	-	NC_000015.10:g.100907182C>T	ESP,ExAC,TOPMed,gnomAD
rs769972068	p.Asn433Ser	missense variant	-	NC_000015.10:g.100907185A>G	ExAC,gnomAD
rs145630728	p.Asp436Asn	missense variant	-	NC_000015.10:g.100907193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1434995136	p.Tyr437His	missense variant	-	NC_000015.10:g.100907196T>C	TOPMed
rs369860247	p.Tyr437Cys	missense variant	-	NC_000015.10:g.100907197A>G	ESP,ExAC,TOPMed,gnomAD
rs751729739	p.Leu439Pro	missense variant	-	NC_000015.10:g.100907203T>C	ExAC,gnomAD
rs1324563850	p.Thr440Ile	missense variant	-	NC_000015.10:g.100907206C>T	TOPMed
COSM433594	p.Ala441Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907209C>T	NCI-TCGA Cosmic
rs1421683292	p.Val443Met	missense variant	-	NC_000015.10:g.100907214G>A	TOPMed
rs767708755	p.Thr445Lys	missense variant	-	NC_000015.10:g.100907221C>A	ExAC,gnomAD
rs751007156	p.Lys446Arg	missense variant	-	NC_000015.10:g.100907224A>G	ExAC,gnomAD
COSM959599	p.Leu448Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907229C>A	NCI-TCGA Cosmic
rs1437336863	p.Asp449Glu	missense variant	-	NC_000015.10:g.100907234C>G	gnomAD
rs188694308	p.Asp449Asn	missense variant	-	NC_000015.10:g.100907232G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs142115253	p.Lys450Arg	missense variant	-	NC_000015.10:g.100907236A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1385367545	p.Ala451Thr	missense variant	-	NC_000015.10:g.100907238G>A	gnomAD
rs760821464	p.Lys453Thr	missense variant	-	NC_000015.10:g.100907245A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala457Val	missense variant	-	NC_000015.10:g.100907257C>T	NCI-TCGA
rs147498604	p.Glu459Lys	missense variant	-	NC_000015.10:g.100907262G>A	ESP,ExAC,TOPMed,gnomAD
rs147498604	p.Glu459Gln	missense variant	-	NC_000015.10:g.100907262G>C	ESP,ExAC,TOPMed,gnomAD
rs1327059295	p.Ser460Cys	missense variant	-	NC_000015.10:g.100907266C>G	gnomAD
rs377271890	p.Thr462Met	missense variant	-	NC_000015.10:g.100907272C>T	ESP,ExAC,TOPMed,gnomAD
rs762019225	p.Trp464Ter	stop gained	-	NC_000015.10:g.100907278G>A	ExAC,gnomAD
VAR_072337	p.Asn466Lys	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
rs1159354141	p.Cys467Ser	missense variant	-	NC_000015.10:g.100908416G>C	TOPMed
rs147752643	p.Ala470Ser	missense variant	-	NC_000015.10:g.100908424G>T	ESP,ExAC,TOPMed,gnomAD
rs147752643	p.Ala470Thr	missense variant	-	NC_000015.10:g.100908424G>A	ESP,ExAC,TOPMed,gnomAD
rs772154609	p.Leu471Phe	missense variant	-	NC_000015.10:g.100908427C>T	ExAC,gnomAD
rs915715572	p.Gln474Ter	stop gained	-	NC_000015.10:g.100908436C>T	TOPMed
rs947226082	p.Gly478Asp	missense variant	-	NC_000015.10:g.100908449G>A	TOPMed
RCV000710043	p.Gly479Asp	missense variant	Isolated anophthalmia-microphthalmia syndrome	NC_000015.10:g.100908452G>A	ClinVar
rs760973105	p.Gly479Ser	missense variant	-	NC_000015.10:g.100908451G>A	ExAC,gnomAD
rs1213690160	p.Asn485Ile	missense variant	-	NC_000015.10:g.100908470A>T	TOPMed
NCI-TCGA novel	p.Asn485His	missense variant	-	NC_000015.10:g.100908469A>C	NCI-TCGA
NCI-TCGA novel	p.Glu488Ter	stop gained	-	NC_000015.10:g.100908478G>T	NCI-TCGA
rs1310945145	p.Tyr492Cys	missense variant	-	NC_000015.10:g.100914709A>G	gnomAD
rs397514653	p.Ala493Thr	missense variant	-	NC_000015.10:g.100914711G>A	1000Genomes,ExAC,gnomAD
COSM959601	p.Ala493Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100914712C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala493Ser	missense variant	-	NC_000015.10:g.100914711G>T	NCI-TCGA
RCV000033222	p.Ala493Pro	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100914711G>C	ClinVar
rs397514653	p.Ala493Pro	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100914711G>C	UniProt,dbSNP
VAR_069325	p.Ala493Pro	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100914711G>C	UniProt
rs397514653	p.Ala493Pro	missense variant	-	NC_000015.10:g.100914711G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala493Asp	missense variant	-	NC_000015.10:g.100914712C>A	NCI-TCGA
rs1464529546	p.Leu494Ser	missense variant	-	NC_000015.10:g.100914715T>C	gnomAD
rs753755248	p.Glu496Ter	stop gained	-	NC_000015.10:g.100914720G>T	ExAC,gnomAD
rs753755248	p.Glu496Lys	missense variant	-	NC_000015.10:g.100914720G>A	ExAC,gnomAD
rs1475901775	p.Tyr497Asn	missense variant	-	NC_000015.10:g.100914723T>A	gnomAD
rs1168265416	p.Thr498Ile	missense variant	-	NC_000015.10:g.100914727C>T	gnomAD
rs1424217463	p.Thr502Ala	missense variant	-	NC_000015.10:g.100914738A>G	gnomAD
RCV000194309	p.Ile505Thr	missense variant	Autistic disorder of childhood onset (AUTS)	NC_000015.10:g.100914748T>C	ClinVar
rs797046134	p.Ile505Thr	missense variant	-	NC_000015.10:g.100914748T>C	-
rs1178178708	p.Ile505Val	missense variant	-	NC_000015.10:g.100914747A>G	gnomAD
rs758415413	p.Asp509Asn	missense variant	-	NC_000015.10:g.100914759G>A	ExAC,TOPMed,gnomAD
rs199747569	p.Asn511Lys	missense variant	-	NC_000015.10:g.100914767C>A	ExAC,TOPMed,gnomAD
rs199747569	p.Asn511Lys	missense variant	-	NC_000015.10:g.100914767C>G	ExAC,TOPMed,gnomAD
rs374029874	p.Pro512Ala	missense variant	-	NC_000015.10:g.100914768C>G	ESP,ExAC,gnomAD
rs374029874	p.Pro512Thr	missense variant	-	NC_000015.10:g.100914768C>A	ESP,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0002893	Refractory anemias	disease	BEFREE
C0003119	Anophthalmos	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004352	Autistic Disorder	group	CLINVAR
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008297	Choanal Atresia	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0010709	Cyst	phenotype	BEFREE
C0017638	Glioma	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	CTD_human
C0025202	melanoma	disease	BEFREE
C0026010	Microphthalmos	disease	BEFREE;HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0338502	Hypoplasia of the optic nerve	disease	BEFREE;HPO
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0424605	Developmental delay (disorder)	disease	BEFREE
C0476273	Respiratory distress	phenotype	BEFREE
C0524528	Pervasive Development Disorder	group	BEFREE
C0557874	Global developmental delay	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1514422	Glioblastoma, IDH-Wildtype	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1855052	MICROPHTHALMIA, ISOLATED 1	disease	ORPHANET
C1997217	Low grade glioma	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3554524	MICROPHTHALMIA, ISOLATED 8	disease	CLINVAR;CTD_human;UNIPROT
C3714506	Meckel syndrome type 1	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
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:0001758	retinal dehydrogenase activity	IDA
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IDA
GO:0042803	protein homodimerization activity	IDA
GO:0070324	thyroid hormone binding	IEA
GO:0070403	NAD+ binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002072	optic cup morphogenesis involved in camera-type eye development	IEA
GO:0002138	retinoic acid biosynthetic process	IDA
GO:0007626	locomotory behavior	IEA
GO:0021768	nucleus accumbens development	IEA
GO:0031076	embryonic camera-type eye development	ISS
GO:0042472	inner ear morphogenesis	IEA
GO:0042572	retinol metabolic process	IEA
GO:0042573	retinoic acid metabolic process	IDA
GO:0042574	retinal metabolic process	IDA
GO:0043065	positive regulation of apoptotic process	IEA
GO:0048048	embryonic eye morphogenesis	ISS
GO:0050885	neuromuscular process controlling balance	IEA
GO:0051289	protein homotetramerization	IDA
GO:0055114	oxidation-reduction process	IEA
GO:0060013	righting reflex	IEA
GO:0060166	olfactory pit development	IEA
GO:0060324	face development	IEA
GO:0070384	Harderian gland development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-5362517	Signaling by Retinoic Acid	TAS
R-HSA-5365859	RA biosynthesis pathway	TAS
R-HSA-9006931	Signaling by Nuclear Receptors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C517113	1,1-bis(4-hydroxyphenyl)cyclohexane	1,1-bis(4-hydroxyphenyl)cyclohexane results in decreased expression of ALDH1A3 mRNA	28591870
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of ALDH1A3 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ALDH1A3 mRNA	28628672
C013186	2,3-pentanedione	2,3-pentanedione results in increased expression of ALDH1A3 mRNA	30710127
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of ALDH1A3 mRNA	21346803
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in increased expression of ALDH1A3 mRNA	22584684
C012796	2-butenal	2-butenal results in increased expression of ALDH1A3 mRNA	20471460
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of ALDH1A3 mRNA	29947894
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of ALDH1A3 mRNA	23196670
C014464	3,4-dichloroaniline	3,4-dichloroaniline results in increased expression of ALDH1A3 mRNA	24172598
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in decreased expression of ALDH1A3 mRNA	28591870
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 mRNA	27188386
C032642	4-aminophenylarsenoxide	4-aminophenylarsenoxide binds to ALDH1A3 protein	26598702
C032642	4-aminophenylarsenoxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to ALDH1A3 protein]	26598702
C496492	abrine	abrine results in increased expression of ALDH1A3 mRNA	31054353
C106812	adefovir dipivoxil	adefovir dipivoxil results in increased expression of ALDH1A3 mRNA	25596134
D000336	Aerosols	Aerosols results in increased expression of ALDH1A3 mRNA	29501877; 29505817;
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ALDH1A3 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ALDH1A3 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of ALDH1A3 exon	30157460
D000447	Aldehydes	Aldehydes results in increased expression of ALDH1A3 mRNA	25014914
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ALDH1A3 mRNA	16483693
D000970	Antineoplastic Agents	ALDH1A3 mRNA results in increased susceptibility to Antineoplastic Agents	31580832
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of ALDH1A3 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to ALDH1A3 protein]	26598702
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of ALDH1A3 mRNA	26705709
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of ALDH1A3 protein	25419056
C015001	arsenite	arsenite results in decreased methylation of ALDH1A3 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of ALDH1A3 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of ALDH1A3 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ALDH1A3 mRNA	21714911; 22178795; 30439556;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ALDH1A3 protein	25628927
D001564	Benzo(a)pyrene	PARG affects the reaction [Benzo(a)pyrene results in increased expression of ALDH1A3 protein]	25628927
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ALDH1A3 mRNA	25908611
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ALDH1A3 mRNA	23735875
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of ALDH1A3 exon	30157460
C053541	bicalutamide	bicalutamide inhibits the reaction [Dihydrotestosterone results in increased expression of ALDH1A3 mRNA]	17526768
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of ALDH1A3 mRNA	28591870
C006780	bisphenol A	bisphenol A results in decreased expression of ALDH1A3 mRNA	21269433
C006780	bisphenol A	bisphenol A results in decreased expression of ALDH1A3 mRNA	28591870; 28711546;
C006780	bisphenol A	bisphenol A results in increased expression of ALDH1A3 mRNA	22576693
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of ALDH1A3 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of ALDH1A3 mRNA	26063408; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of ALDH1A3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of ALDH1A3 gene	28505145
C492482	bisphenol B	bisphenol B results in decreased expression of ALDH1A3 mRNA	28591870
C000611646	bisphenol F	bisphenol F results in decreased expression of ALDH1A3 mRNA	28591870
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ALDH1A3 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of ALDH1A3 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of ALDH1A3 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ALDH1A3 mRNA	25596134
D002117	Calcitriol	Calcitriol results in increased expression of ALDH1A3 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of ALDH1A3 mRNA	21592394
C117342	calfactant	[Nanotubes, Carbon co-treated with calfactant] results in increased expression of ALDH1A3 protein	23026733
D002330	Carmustine	ALDH1A3 mRNA affects the susceptibility to Carmustine	16365179
C004656	chloroacetaldehyde	chloroacetaldehyde results in increased expression of ALDH1A3 mRNA	25596134
C100187	chloropicrin	chloropicrin affects the expression of ALDH1A3 mRNA	26352163
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ALDH1A3 mRNA	20938992
D000077404	Cidofovir	Cidofovir results in increased expression of ALDH1A3 mRNA	25596134
D002945	Cisplatin	Cisplatin affects the expression of ALDH1A3 mRNA	23300844
D002945	Cisplatin	Cisplatin promotes the reaction [jinfukang results in increased expression of ALDH1A3 mRNA]	27392435
D002945	Cisplatin	Cisplatin results in increased expression of ALDH1A3 mRNA	25596134
D002945	Cisplatin	jinfukang promotes the reaction [Cisplatin results in increased expression of ALDH1A3 mRNA]	27392435
D004002	Clodronic Acid	Clodronic Acid results in increased expression of ALDH1A3 mRNA	25596134
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of ALDH1A3 mRNA	19320972
D003513	Cycloheximide	[Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in increased expression of ALDH1A3 mRNA	19684285
D000077209	Decitabine	Decitabine affects the expression of ALDH1A3 mRNA	17194187; 23300844;
D000077209	Decitabine	Decitabine results in increased expression of ALDH1A3 mRNA	16367923; 21856257;
D003907	Dexamethasone	Dexamethasone results in increased expression of ALDH1A3 mRNA	25047013
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of ALDH1A3 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ALDH1A3 mRNA	28628672
D003931	Diacetyl	Diacetyl results in increased expression of ALDH1A3 mRNA	30710127
C041517	dibenzo(a,l)pyrene	dibenzo(a,l)pyrene results in decreased expression of ALDH1A3 mRNA	25908611
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of ALDH1A3 mRNA	21266533
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate results in decreased expression of ALDH1A3 mRNA	26924002
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of ALDH1A3 mRNA	30102407
D004052	Diethylnitrosamine	[Mastic Resin co-treated with Diethylnitrosamine] results in decreased expression of ALDH1A3 mRNA	18977376
D013196	Dihydrotestosterone	AR protein promotes the reaction [Dihydrotestosterone results in increased expression of ALDH1A3 mRNA]	17526768
D013196	Dihydrotestosterone	bicalutamide inhibits the reaction [Dihydrotestosterone results in increased expression of ALDH1A3 mRNA]	17526768
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased activity of ALDH1A3 protein	17526768
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of ALDH1A3 mRNA	17526768; 29581250;
C472511	dimethylarsinous acid	dimethylarsinous acid results in increased expression of ALDH1A3 mRNA	20886546
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of ALDH1A3 mRNA	26924002
D004237	Diuron	Diuron metabolite results in increased expression of ALDH1A3 mRNA	24172598
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 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 ALDH1A3 mRNA	27188386
C118739	entinostat	entinostat results in increased expression of ALDH1A3 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 ALDH1A3 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of ALDH1A3 mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH1A3 mRNA	19619570
D004958	Estradiol	Estradiol results in decreased expression of ALDH1A3 mRNA	28591870; 28711546;
D004958	Estradiol	Estradiol results in increased expression of ALDH1A3 mRNA	19619570
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of ALDH1A3 mRNA	23649840
C545733	fatostatin	fatostatin results in decreased expression of ALDH1A3 mRNA	19716478
D005472	Fluorouracil	ALDH1A3 protein affects the susceptibility to Fluorouracil	15352031
D005472	Fluorouracil	Fluorouracil results in decreased expression of ALDH1A3 protein	15352031
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ALDH1A3 mRNA	20938992
D004397	Fonofos	Fonofos results in increased methylation of ALDH1A3 promoter	22847954
D005557	Formaldehyde	Formaldehyde results in increased expression of ALDH1A3 mRNA	23649840
C039281	furan	furan results in increased expression of ALDH1A3 mRNA	27387713
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
C056507	gemcitabine	gemcitabine results in increased expression of ALDH1A3 mRNA	17039268
D019833	Genistein	Genistein results in decreased expression of ALDH1A3 mRNA	15378649
C010974	glyphosate	glyphosate results in decreased expression of ALDH1A3 mRNA	28711546
D006108	Graphite	Graphite affects the expression of ALDH1A3 mRNA	29933104
D006997	Hypochlorous Acid	Hypochlorous Acid results in increased expression of ALDH1A3 mRNA	18156441
D007069	Ifosfamide	Ifosfamide results in increased expression of ALDH1A3 mRNA	25596134
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of ALDH1A3 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ALDH1A3 mRNA	28628672
D007529	Isoflavones	Isoflavones affects the expression of ALDH1A3 mRNA	16365062
C544151	jinfukang	Cisplatin promotes the reaction [jinfukang results in increased expression of ALDH1A3 mRNA]	27392435
C544151	jinfukang	jinfukang promotes the reaction [Cisplatin results in increased expression of ALDH1A3 mRNA]	27392435
D008094	Lithium	Lithium results in decreased expression of ALDH1A3 protein	18296634
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of ALDH1A3 mRNA	15711924
D000069997	Mastic Resin	[Mastic Resin co-treated with Diethylnitrosamine] results in decreased expression of ALDH1A3 mRNA	18977376
C540278	MDV 3100	MDV 3100 results in decreased expression of ALDH1A3 mRNA	29581250
C042720	mercuric bromide	mercuric bromide results in increased expression of ALDH1A3 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 ALDH1A3 mRNA	27188386
D008701	Methapyrilene	Methapyrilene results in increased methylation of ALDH1A3 exon	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ALDH1A3 mRNA	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of ALDH1A3 mRNA	23649840
D015741	Metribolone	Metribolone results in increased expression of ALDH1A3 mRNA	17526768
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of ALDH1A3 mRNA	26924002
D009151	Mustard Gas	Mustard Gas results in increased expression of ALDH1A3 mRNA	25102026
C028473	N-acetyl-4-benzoquinoneimine	ALDH1A3 gene SNP affects the susceptibility to N-acetyl-4-benzoquinoneimine	21177773
D037742	Nanotubes, Carbon	[Nanotubes, Carbon co-treated with calfactant] results in increased expression of ALDH1A3 protein	23026733
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of ALDH1A3 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ALDH1A3 mRNA	25554681
C007350	nitrofen	nitrofen results in decreased expression of ALDH1A3 protein	24972641
C007350	nitrofen	nitrofen results in increased expression of ALDH1A3 mRNA	17270546; 26672737;
C007350	nitrofen	Tretinoin promotes the reaction [nitrofen results in increased expression of ALDH1A3 mRNA]	26672737
C014129	N-nitrosodiethanolamine	N-nitrosodiethanolamine results in increased expression of ALDH1A3 mRNA	30102407
D009853	Omeprazole	Omeprazole results in increased expression of ALDH1A3 mRNA	12040753
D010100	Oxygen	Oxygen deficiency affects the expression of ALDH1A3 mRNA	25596134
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of ALDH1A3 mRNA	30529165
D010126	Ozone	[NOTCH3 gene mutant form affects the susceptibility to Ozone] which affects the expression of ALDH1A3 mRNA	25658374
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 ALDH1A3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ALDH1A3 mRNA	26272509
D010278	Parathion	Parathion results in increased methylation of ALDH1A3 promoter	22847954
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in increased expression of ALDH1A3 mRNA	22178795; 28341207; 29703138;
C046012	pentanal	pentanal results in increased expression of ALDH1A3 mRNA	26079696
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 ALDH1A3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of ALDH1A3 mRNA	26272509
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of ALDH1A3 mRNA	15728792
D010894	Piroxicam	Piroxicam results in decreased expression of ALDH1A3 mRNA	21858171
D010936	Plant Extracts	Plant Extracts results in decreased expression of ALDH1A3 protein	29969672
D010938	Plant Oils	Plant Oils results in decreased expression of ALDH1A3 mRNA	23370395
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ALDH1A3 mRNA	29432896
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of ALDH1A3 mRNA	22714537
C572919	PP242	PP242 results in increased expression of ALDH1A3 mRNA	30679557
D017035	Pravastatin	Pravastatin affects the expression of ALDH1A3 mRNA	27225895
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of ALDH1A3 mRNA	20660070
D011374	Progesterone	Progesterone results in decreased expression of ALDH1A3 mRNA	22238285
D011374	Progesterone	Progesterone results in decreased expression of ALDH1A3	17510236
C005556	propionaldehyde	propionaldehyde results in increased expression of ALDH1A3 mRNA	26079696
D000077185	Resveratrol	Resveratrol results in decreased expression of ALDH1A3 mRNA	18586690
D012172	Retinaldehyde	ALDH1A3 protein results in increased oxidation of Retinaldehyde	17526768
D012172	Retinaldehyde	ALDH1A3 protein results in increased oxidation of Retinaldehyde	17473173
C078903	seocalcitol	seocalcitol results in decreased expression of ALDH1A3 mRNA	12040012
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of ALDH1A3 mRNA	25895662
C009277	sodium arsenate	sodium arsenate results in decreased expression of ALDH1A3 mRNA	12727804
C017947	sodium arsenite	sodium arsenite results in decreased expression of ALDH1A3 mRNA	12727804; 29301061;
D053260	Soot	Soot results in increased expression of ALDH1A3 mRNA	22461453; 26551751;
C075117	squalestatin 1	squalestatin 1 results in decreased expression of ALDH1A3 mRNA	27225895
C021751	tanshinone	tanshinone results in decreased expression of ALDH1A3 mRNA	15849732
C087114	tebuconazole	tebuconazole results in decreased expression of ALDH1A3 mRNA	30458266
D000077204	Temozolomide	ALDH1A3 mRNA affects the susceptibility to Temozolomide	16365179
C012568	terbufos	terbufos results in increased methylation of ALDH1A3 promoter	22847954
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of ALDH1A3 mRNA	15336504
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of ALDH1A3 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of ALDH1A3 mRNA	21592394
C004648	testosterone enanthate	testosterone enanthate affects the expression of ALDH1A3 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH1A3 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in increased expression of ALDH1A3 mRNA	19684285
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of ALDH1A3 mRNA]	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ALDH1A3 mRNA	12377990; 15345368; 17968679; 19619570; 19684285; 22903824; 29704546;
D013749	Tetrachlorodibenzodioxin	[Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH1A3 mRNA	14761676
D013749	Tetrachlorodibenzodioxin	ALDH1A3 results in increased susceptibility to Tetrachlorodibenzodioxin	21807577
D019284	Thapsigargin	Thapsigargin results in decreased expression of ALDH1A3 mRNA	22378314
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of ALDH1A3 mRNA	27404394; 29505817;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of ALDH1A3 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of ALDH1A3 mRNA	27865774; 29501877; 30610935;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of ALDH1A3 protein	29501877
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ALDH1A3 mRNA	19969065
D014212	Tretinoin	ALDH1A3 protein results in increased chemical synthesis of Tretinoin	17526768
D014212	Tretinoin	Tretinoin results in decreased expression of ALDH1A3 mRNA	21934132; 23724009;
D014212	Tretinoin	ALDH1A3 protein affects the chemical synthesis of Tretinoin	14623956
D014212	Tretinoin	ALDH1A3 protein promotes the reaction [Tretinoin results in increased expression of RARB mRNA]	17207476
D014212	Tretinoin	ALDH1A3 protein results in increased chemical synthesis of Tretinoin	16207763; 16836633; 18831967;
D014212	Tretinoin	ALDH1A3 results in increased chemical synthesis of Tretinoin	21807577
D014212	Tretinoin	[ALDH1A3 results in increased chemical synthesis of Tretinoin] which results in increased expression of AHR	21807577
D014212	Tretinoin	[DHRS3 gene mutant form results in increased abundance of Tretinoin] which results in decreased expression of ALDH1A3 mRNA	24005908
D014212	Tretinoin	Tretinoin affects the reaction [ALDH1A3 affects the expression of AHR]	21807577
D014212	Tretinoin	ALDH1A3 protein results in increased chemical synthesis of Tretinoin	21138835
D014212	Tretinoin	Tretinoin promotes the reaction [nitrofen results in increased expression of ALDH1A3 mRNA]	26672737
D014212	Tretinoin	Tretinoin results in increased expression of ALDH1A3 mRNA	26672737
D014212	Tretinoin	Tretinoin results in increased expression of ALDH1A3 protein	26672737
D014212	Tretinoin	ALDH1A3 protein results in increased chemical synthesis of Tretinoin	17473173
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 ALDH1A3 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ALDH1A3 mRNA	24935251; 26272509;
D014284	Triiodothyronine	[Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH1A3 mRNA	14761676
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of ALDH1A3 mRNA	19042947
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of ALDH1A3 mRNA	17982090
D014635	Valproic Acid	Valproic Acid affects the expression of ALDH1A3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ALDH1A3 mRNA	24383497; 24935251;
D014638	Vanadates	Vanadates results in increased expression of ALDH1A3 mRNA	22714537
D024483	Vitamin K 3	Vitamin K 3 affects the expression of ALDH1A3 mRNA	20829426
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 ALDH1A3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of ALDH1A3 mRNA	26272509
C574123	walrycin A	walrycin A results in increased expression of ALDH1A3 mRNA	22314385
C066632	yessotoxin	yessotoxin analog results in decreased expression of ALDH1A3 mRNA	30679557
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of ALDH1A3 mRNA	24714768; 25596134;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1013	Microphthalmia
KW-0520	NAD
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR016161	Ald_DH/histidinol_DH
IPR016163	Ald_DH_C
IPR016160	Ald_DH_CS_CYS
IPR029510	Ald_DH_CS_GLU
IPR016162	Ald_DH_N
IPR015590	Aldehyde_DH_dom

PROSITE

PROSITE ID	PROSITE Term
PS00070	ALDEHYDE_DEHYDR_CYS
PS00687	ALDEHYDE_DEHYDR_GLU

Pfam

Pfam ID	Pfam Term
PF00171	Aldedh

Gene: ALDH1A3

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

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