CleftGeneDB-Search

Gene: RAX

Basic information

Tag	Content
Uniprot ID	Q9Y2V3; Q86V11;
Entrez ID	30062
Genbank protein ID	AAH51901.1; BAJ83973.1; AAD23438.1;
Genbank nucleotide ID	NM_013435.2
Ensembl protein ID	ENSP00000334813; ENSP00000256852;
Ensembl nucleotide ID	ENSG00000134438
Gene name	Retinal homeobox protein Rx
Gene symbol	RAX
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.
Sequence	MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT FPAERGARGA 60 KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP YCPKEPGEAR PSPGLPVGPA 120 TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV 180 QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP 240 LESWLGPPLP GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP 300 PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL 346

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)

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	RAX	108633766	A0A452ER72		Capra hircus	Prediction	More>>
1:1 ortholog	RAX	30062	Q9Y2V3		Homo sapiens	Prediction	More>>
1:1 ortholog	Rax	19434	O35602	CPO	Mus musculus	Publication	More>>
1:1 ortholog	RAX	468552	H2QEL5		Pan troglodytes	Prediction	More>>
1:1 ortholog	Rax		D3ZLM8		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1446492053	p.Pro4Gln	missense variant	-	NC_000018.10:g.59273196G>T	TOPMed,gnomAD
rs1446492053	p.Pro4Arg	missense variant	-	NC_000018.10:g.59273196G>C	TOPMed,gnomAD
rs1167489071	p.Gly5Ser	missense variant	-	NC_000018.10:g.59273194C>T	TOPMed,gnomAD
rs1251733886	p.Cys6Arg	missense variant	-	NC_000018.10:g.59273191A>G	TOPMed
rs1406489586	p.Cys6Ter	stop gained	-	NC_000018.10:g.59273189G>T	gnomAD
rs376585242	p.Ala7Glu	missense variant	-	NC_000018.10:g.59273187G>T	ExAC,gnomAD
rs1157387573	p.Ala7Thr	missense variant	-	NC_000018.10:g.59273188C>T	TOPMed,gnomAD
rs1027596448	p.Met10Val	missense variant	-	NC_000018.10:g.59273179T>C	TOPMed
rs1161761082	p.Met10Ile	missense variant	-	NC_000018.10:g.59273177C>T	gnomAD
rs1441701885	p.Ala11Asp	missense variant	-	NC_000018.10:g.59273175G>T	gnomAD
rs995064817	p.Asp12Glu	missense variant	-	NC_000018.10:g.59273171G>T	TOPMed,gnomAD
rs1178316569	p.Asp12Asn	missense variant	-	NC_000018.10:g.59273173C>T	TOPMed,gnomAD
rs936886267	p.Gly13Arg	missense variant	-	NC_000018.10:g.59273170C>G	TOPMed,gnomAD
rs936886267	p.Gly13Trp	missense variant	-	NC_000018.10:g.59273170C>A	TOPMed,gnomAD
rs936886267	p.Gly13Arg	missense variant	-	NC_000018.10:g.59273170C>T	TOPMed,gnomAD
rs1230996670	p.Ala18Thr	missense variant	-	NC_000018.10:g.59273155C>T	gnomAD
rs747381883	p.Gly19Asp	missense variant	-	NC_000018.10:g.59273151C>T	ExAC,gnomAD
rs897692459	p.Gly19Ser	missense variant	-	NC_000018.10:g.59273152C>T	TOPMed,gnomAD
rs897692459	p.Gly19Cys	missense variant	-	NC_000018.10:g.59273152C>A	TOPMed,gnomAD
rs897692459	p.Gly19Arg	missense variant	-	NC_000018.10:g.59273152C>G	TOPMed,gnomAD
rs1436913110	p.Arg23Cys	missense variant	-	NC_000018.10:g.59273140G>A	TOPMed
rs1243133586	p.Ser24Arg	missense variant	-	NC_000018.10:g.59273135G>T	gnomAD
rs1275732549	p.Ser24Asn	missense variant	-	NC_000018.10:g.59273136C>T	TOPMed
rs1355301708	p.Pro25Ser	missense variant	-	NC_000018.10:g.59273134G>A	gnomAD
rs1309499862	p.Pro25Leu	missense variant	-	NC_000018.10:g.59273133G>A	gnomAD
rs778308289	p.Gly27Arg	missense variant	-	NC_000018.10:g.59273128C>T	ExAC,gnomAD
rs562809912	p.Gly27Ala	missense variant	-	NC_000018.10:g.59273127C>G	1000Genomes,TOPMed,gnomAD
rs1295673512	p.Ser28Asn	missense variant	-	NC_000018.10:g.59273124C>T	gnomAD
rs1226292501	p.Leu32Ile	missense variant	-	NC_000018.10:g.59273113G>T	TOPMed
rs1421573171	p.Glu36Ter	stop gained	-	NC_000018.10:g.59273101C>A	TOPMed,gnomAD
rs1421573171	p.Glu36Lys	missense variant	-	NC_000018.10:g.59273101C>T	TOPMed,gnomAD
RCV000387698	p.Gly40Arg	missense variant	-	NC_000018.10:g.59273089C>G	ClinVar
rs886054028	p.Gly40Trp	missense variant	-	NC_000018.10:g.59273089C>A	TOPMed
rs886054028	p.Gly40Arg	missense variant	-	NC_000018.10:g.59273089C>G	TOPMed
rs1055818612	p.Phe41Tyr	missense variant	-	NC_000018.10:g.59273085A>T	TOPMed
rs937587828	p.Thr42Ile	missense variant	-	NC_000018.10:g.59273082G>A	TOPMed
RCV000333220	p.Asp44Glu	missense variant	-	NC_000018.10:g.59273075G>T	ClinVar
rs2271733	p.Asp44Glu	missense variant	-	NC_000018.10:g.59273075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2271733	p.Asp44Glu	missense variant	-	NC_000018.10:g.59273075G>T	UniProt,dbSNP
VAR_020150	p.Asp44Glu	missense variant	-	NC_000018.10:g.59273075G>T	UniProt
rs565172849	p.Asp45Gly	missense variant	-	NC_000018.10:g.59273073T>C	1000Genomes,TOPMed,gnomAD
rs1192712648	p.Asp45Glu	missense variant	-	NC_000018.10:g.59273072G>T	TOPMed,gnomAD
rs565172849	p.Asp45Ala	missense variant	-	NC_000018.10:g.59273073T>G	1000Genomes,TOPMed,gnomAD
rs1488724199	p.Gly46Arg	missense variant	-	NC_000018.10:g.59273071C>T	TOPMed,gnomAD
rs61735443	p.Ile47Asn	missense variant	-	NC_000018.10:g.59273067A>T	TOPMed,gnomAD
rs974769749	p.Ile47Phe	missense variant	-	NC_000018.10:g.59273068T>A	TOPMed,gnomAD
rs150622912	p.Thr50Pro	missense variant	-	NC_000018.10:g.59273059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1214569321	p.Phe51Leu	missense variant	-	NC_000018.10:g.59273054G>C	TOPMed,gnomAD
rs1314777106	p.Ala53Glu	missense variant	-	NC_000018.10:g.59273049G>T	gnomAD
rs1303770564	p.Glu54Gly	missense variant	-	NC_000018.10:g.59273046T>C	gnomAD
rs985273475	p.Arg55Trp	missense variant	-	NC_000018.10:g.59273044G>A	gnomAD
rs1297101098	p.Gly56Val	missense variant	-	NC_000018.10:g.59273040C>A	TOPMed
RCV000259362	p.Gly56Ser	missense variant	-	NC_000018.10:g.59273041C>T	ClinVar
rs886054027	p.Gly56Ser	missense variant	-	NC_000018.10:g.59273041C>T	TOPMed,gnomAD
rs1402434953	p.Ala57Thr	missense variant	-	NC_000018.10:g.59273038C>T	gnomAD
rs368193212	p.Ala57Val	missense variant	-	NC_000018.10:g.59273037G>A	ExAC,TOPMed,gnomAD
RCV000373550	p.Arg58Pro	missense variant	-	NC_000018.10:g.59273034C>G	ClinVar
rs886054026	p.Arg58Pro	missense variant	-	NC_000018.10:g.59273034C>G	TOPMed
rs1297677016	p.Gly59Asp	missense variant	-	NC_000018.10:g.59273031C>T	TOPMed,gnomAD
rs1226207164	p.Ala60Thr	missense variant	-	NC_000018.10:g.59273029C>T	TOPMed,gnomAD
rs780317315	p.Glu62Lys	missense variant	-	NC_000018.10:g.59273023C>T	ExAC,TOPMed,gnomAD
rs1022815923	p.Arg63Leu	missense variant	-	NC_000018.10:g.59273019C>A	TOPMed,gnomAD
rs1022815923	p.Arg63Pro	missense variant	-	NC_000018.10:g.59273019C>G	TOPMed,gnomAD
rs1445611036	p.Asp64Asn	missense variant	-	NC_000018.10:g.59273017C>T	TOPMed
rs757055915	p.Arg65Met	missense variant	-	NC_000018.10:g.59273013C>A	ExAC,gnomAD
rs536765190	p.Arg66Thr	missense variant	-	NC_000018.10:g.59273010C>G	ExAC,TOPMed,gnomAD
RCV000597146	p.Arg66Thr	missense variant	-	NC_000018.10:g.59273010C>G	ClinVar
rs763981650	p.Gly68Arg	missense variant	-	NC_000018.10:g.59273005C>G	ExAC,TOPMed,gnomAD
rs758221079	p.Gly68Asp	missense variant	-	NC_000018.10:g.59273004C>T	ExAC,TOPMed,gnomAD
rs763981650	p.Gly68Ser	missense variant	-	NC_000018.10:g.59273005C>T	ExAC,TOPMed,gnomAD
rs1484643719	p.Ala69Glu	missense variant	-	NC_000018.10:g.59273001G>T	gnomAD
rs1164813146	p.Arg70Trp	missense variant	-	NC_000018.10:g.59272999G>A	TOPMed
rs1459904633	p.Ala72Ser	missense variant	-	NC_000018.10:g.59272993C>A	gnomAD
rs752697208	p.Ala72Gly	missense variant	-	NC_000018.10:g.59272992G>C	ExAC,TOPMed,gnomAD
rs1389571436	p.Cys73Phe	missense variant	-	NC_000018.10:g.59272989C>A	TOPMed
rs1042965899	p.Pro74Ser	missense variant	-	NC_000018.10:g.59272987G>A	gnomAD
rs1437384326	p.Lys75Glu	missense variant	-	NC_000018.10:g.59272984T>C	TOPMed
rs933462138	p.Lys75Arg	missense variant	-	NC_000018.10:g.59272983T>C	TOPMed,gnomAD
rs1246224888	p.Ala76Val	missense variant	-	NC_000018.10:g.59272980G>A	TOPMed
rs1246224888	p.Ala76Gly	missense variant	-	NC_000018.10:g.59272980G>C	TOPMed
rs764834579	p.Pro77Ser	missense variant	-	NC_000018.10:g.59272978G>A	ExAC,TOPMed,gnomAD
rs776400648	p.Glu78Lys	missense variant	-	NC_000018.10:g.59272975C>T	ExAC,TOPMed,gnomAD
rs1303613515	p.Glu82Lys	missense variant	-	NC_000018.10:g.59272963C>T	gnomAD
rs765987348	p.Glu82Ala	missense variant	-	NC_000018.10:g.59272962T>G	ExAC,TOPMed,gnomAD
rs773396378	p.Pro85Leu	missense variant	-	NC_000018.10:g.59272953G>A	ExAC,TOPMed,gnomAD
rs773396378	p.Pro85Gln	missense variant	-	NC_000018.10:g.59272953G>T	ExAC,TOPMed,gnomAD
rs1424241563	p.Pro86Gln	missense variant	-	NC_000018.10:g.59272950G>T	TOPMed,gnomAD
rs772496283	p.Pro86Thr	missense variant	-	NC_000018.10:g.59272951G>T	ExAC,gnomAD
rs1257700769	p.Ala88Val	missense variant	-	NC_000018.10:g.59272944G>A	gnomAD
RCV000598975	p.Ala88Ter	frameshift	-	NC_000018.10:g.59272944_59272945delinsT	ClinVar
rs774908864	p.Pro89Ser	missense variant	-	NC_000018.10:g.59272942G>A	ExAC,gnomAD
rs1241615611	p.Ala90Glu	missense variant	-	NC_000018.10:g.59272938G>T	gnomAD
rs1458981555	p.Pro91Thr	missense variant	-	NC_000018.10:g.59272936G>T	TOPMed
rs1319110009	p.Pro91Leu	missense variant	-	NC_000018.10:g.59272935G>A	gnomAD
rs749422125	p.Pro93Leu	missense variant	-	NC_000018.10:g.59272929G>A	ExAC,gnomAD
rs1273056761	p.Glu94Lys	missense variant	-	NC_000018.10:g.59272927C>T	gnomAD
rs1268800383	p.Glu96Gly	missense variant	-	NC_000018.10:g.59272920T>C	gnomAD
rs746126022	p.Glu96Gln	missense variant	-	NC_000018.10:g.59272921C>G	ExAC,TOPMed,gnomAD
rs767252104	p.Ala97Val	missense variant	-	NC_000018.10:g.59272614G>A	ExAC,TOPMed,gnomAD
rs892028528	p.Pro98Thr	missense variant	-	NC_000018.10:g.59272612G>T	TOPMed
rs1350240303	p.Arg99Pro	missense variant	-	NC_000018.10:g.59272608C>G	gnomAD
NCI-TCGA novel	p.Arg99Ter	stop gained	-	NC_000018.10:g.59272609G>A	NCI-TCGA
rs764464403	p.Pro100Ser	missense variant	-	NC_000018.10:g.59272606G>A	ExAC,gnomAD
rs763395564	p.Pro103Leu	missense variant	-	NC_000018.10:g.59272596G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro103Ser	missense variant	-	NC_000018.10:g.59272597G>A	NCI-TCGA
rs776070979	p.Lys104Arg	missense variant	-	NC_000018.10:g.59272593T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu105Lys	missense variant	-	NC_000018.10:g.59272591C>T	NCI-TCGA
rs957532373	p.Pro106Ser	missense variant	-	NC_000018.10:g.59272588G>A	gnomAD
rs776685888	p.Gly107Arg	missense variant	-	NC_000018.10:g.59272585C>T	ExAC,TOPMed,gnomAD
COSM3891198	p.Gly107Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272584C>T	NCI-TCGA Cosmic
rs771237825	p.Glu108Gly	missense variant	-	NC_000018.10:g.59272581T>C	ExAC,gnomAD
COSM709221	p.Glu108Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272582C>T	NCI-TCGA Cosmic
rs747253593	p.Ala109Ser	missense variant	-	NC_000018.10:g.59272579C>A	ExAC,gnomAD
rs202032096	p.Arg110Trp	missense variant	-	NC_000018.10:g.59272576G>A	ESP,ExAC,TOPMed,gnomAD
rs1378610181	p.Arg110Leu	missense variant	-	NC_000018.10:g.59272575C>A	gnomAD
rs202032096	p.Arg110Gly	missense variant	-	NC_000018.10:g.59272576G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg110Gln	missense variant	-	NC_000018.10:g.59272575C>T	NCI-TCGA
rs1260488407	p.Gly114Val	missense variant	-	NC_000018.10:g.59272563C>A	TOPMed
rs1446560067	p.Val117Phe	missense variant	-	NC_000018.10:g.59272555C>A	TOPMed,gnomAD
rs1160800612	p.Pro119Ala	missense variant	-	NC_000018.10:g.59272549G>C	TOPMed
rs1202442561	p.Ala120Gly	missense variant	-	NC_000018.10:g.59272545G>C	TOPMed,gnomAD
rs756854622	p.Thr121Ala	missense variant	-	NC_000018.10:g.59272543T>C	ExAC,gnomAD
rs201103642	p.Gly122Asp	missense variant	-	NC_000018.10:g.59272539C>T	ExAC,gnomAD
rs1343571278	p.Glu123Val	missense variant	-	NC_000018.10:g.59272536T>A	gnomAD
rs138878118	p.Glu123Lys	missense variant	-	NC_000018.10:g.59272537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1303424208	p.Ala124Pro	missense variant	-	NC_000018.10:g.59272534C>G	TOPMed
rs1325393602	p.Glu128Lys	missense variant	-	NC_000018.10:g.59272522C>T	gnomAD
COSM6054446	p.Glu129Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272517C>G	NCI-TCGA Cosmic
rs765811725	p.Gln131Arg	missense variant	-	NC_000018.10:g.59272512T>C	ExAC,gnomAD
rs376129745	p.Gln131His	missense variant	-	NC_000018.10:g.59272511C>G	ExAC,TOPMed
rs1376153990	p.Pro132Thr	missense variant	-	NC_000018.10:g.59272510G>T	TOPMed,gnomAD
rs771144259	p.Lys133Arg	missense variant	-	NC_000018.10:g.59272506T>C	ExAC,gnomAD
rs771144259	p.Lys133Met	missense variant	-	NC_000018.10:g.59272506T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys133Asn	missense variant	-	NC_000018.10:g.59272505C>G	NCI-TCGA
rs1468634900	p.Lys134Glu	missense variant	-	NC_000018.10:g.59272504T>C	gnomAD
rs768555667	p.Arg137Gln	missense variant	-	NC_000018.10:g.59272494C>T	ExAC,gnomAD
rs768555667	p.Arg137Pro	missense variant	-	NC_000018.10:g.59272494C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg137Trp	missense variant	-	NC_000018.10:g.59272495G>A	NCI-TCGA
rs749160270	p.Arg138Trp	missense variant	-	NC_000018.10:g.59272492G>A	ExAC,gnomAD
COSM4072793	p.Thr141Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272483T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr144AsnPheSerTerUnk	frameshift	-	NC_000018.10:g.59272473_59272474insT	NCI-TCGA
rs104894663	p.Gln147Ter	stop gained	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59272465G>A	TOPMed
RCV000008074	p.Gln147Ter	nonsense	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59272465G>A	ClinVar
rs1202792332	p.His149Pro	missense variant	-	NC_000018.10:g.59272458T>G	TOPMed,gnomAD
rs1202792332	p.His149Arg	missense variant	-	NC_000018.10:g.59272458T>C	TOPMed,gnomAD
rs769735298	p.His149Tyr	missense variant	-	NC_000018.10:g.59272459G>A	ExAC,TOPMed,gnomAD
rs1259884977	p.Glu152Gln	missense variant	-	NC_000018.10:g.59272450C>G	gnomAD
rs780624068	p.Arg153Gly	missense variant	-	NC_000018.10:g.59272447G>C	ExAC,gnomAD
rs780624068	p.Arg153Cys	missense variant	-	NC_000018.10:g.59272447G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg153His	missense variant	-	NC_000018.10:g.59272446C>T	NCI-TCGA
NCI-TCGA novel	p.Ala154Thr	missense variant	-	NC_000018.10:g.59272444C>T	NCI-TCGA
rs1441487299	p.Glu156Gln	missense variant	-	NC_000018.10:g.59272438C>G	gnomAD
rs1257114283	p.Glu156Asp	missense variant	-	NC_000018.10:g.59272436C>G	TOPMed
rs1441487299	p.Glu156Lys	missense variant	-	NC_000018.10:g.59272438C>T	gnomAD
rs377063417	p.Lys157Thr	missense variant	-	NC_000018.10:g.59272434T>G	ESP,ExAC,gnomAD
rs777449696	p.His159Gln	missense variant	-	NC_000018.10:g.59272427G>C	ExAC,gnomAD
rs1486914123	p.Tyr160Ter	stop gained	-	NC_000018.10:g.59272424G>T	TOPMed
VAR_075630	p.Tyr160His	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
rs1180506830	p.Pro161Ser	missense variant	-	NC_000018.10:g.59272423G>A	TOPMed
rs1383068323	p.Pro161Gln	missense variant	-	NC_000018.10:g.59272422G>T	gnomAD
rs1383068323	p.Pro161Arg	missense variant	-	NC_000018.10:g.59272422G>C	gnomAD
COSM1324539	p.Asp162His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272420C>G	NCI-TCGA Cosmic
rs753064502	p.Val163Leu	missense variant	-	NC_000018.10:g.59272417C>A	ExAC,gnomAD
rs372582106	p.Ser165Ile	missense variant	-	NC_000018.10:g.59272410C>A	ESP,ExAC,gnomAD
rs372582106	p.Ser165Asn	missense variant	-	NC_000018.10:g.59272410C>T	ESP,ExAC,gnomAD
rs754301606	p.Arg166His	missense variant	-	NC_000018.10:g.59272407C>T	ExAC,gnomAD
rs754301606	p.Arg166Pro	missense variant	-	NC_000018.10:g.59272407C>G	ExAC,gnomAD
rs1178632580	p.Glu167Lys	missense variant	-	NC_000018.10:g.59272405C>T	TOPMed
rs915968183	p.Glu167Gly	missense variant	-	NC_000018.10:g.59272404T>C	-
rs766559837	p.Glu168Ter	stop gained	-	NC_000018.10:g.59272402C>A	ExAC,TOPMed,gnomAD
rs766559837	p.Glu168Lys	missense variant	-	NC_000018.10:g.59272402C>T	ExAC,TOPMed,gnomAD
rs1413414766	p.Ala170Ser	missense variant	-	NC_000018.10:g.59272396C>A	TOPMed
rs920226416	p.Gly171Val	missense variant	-	NC_000018.10:g.59272392C>A	TOPMed,gnomAD
rs61735442	p.Gly171Arg	missense variant	-	NC_000018.10:g.59272393C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775310728	p.Leu175Ile	missense variant	-	NC_000018.10:g.59272381G>T	ExAC,gnomAD
rs745752090	p.Glu177Gly	missense variant	-	NC_000018.10:g.59272374T>C	ExAC,gnomAD
rs1437175580	p.Arg179Gln	missense variant	-	NC_000018.10:g.59272368C>T	TOPMed,gnomAD
rs1405564792	p.Trp183Ser	missense variant	-	NC_000018.10:g.59269497C>G	gnomAD
rs1291862570	p.Asn186Lys	missense variant	-	NC_000018.10:g.59269487G>T	TOPMed
VAR_075631	p.Arg187Gln	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
VAR_075632	p.Arg188Gln	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
rs1480730660	p.Ala189Thr	missense variant	-	NC_000018.10:g.59269480C>T	gnomAD
rs121909127	p.Arg192Gln	missense variant	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59269470C>T	-
rs121909127	p.Arg192Gln	missense variant	Microphthalmia, isolated, 3 (MCOP3)	NC_000018.10:g.59269470C>T	UniProt,dbSNP
VAR_034905	p.Arg192Gln	missense variant	Microphthalmia, isolated, 3 (MCOP3)	NC_000018.10:g.59269470C>T	UniProt
RCV000008075	p.Arg192Gln	missense variant	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59269470C>T	ClinVar
rs756644705	p.Arg193Gln	missense variant	-	NC_000018.10:g.59269467C>T	ExAC,gnomAD
rs781266064	p.Gln194His	missense variant	-	NC_000018.10:g.59269463C>G	ExAC,gnomAD
rs750985060	p.Gln194Leu	missense variant	-	NC_000018.10:g.59269464T>A	ExAC,gnomAD
rs1315462289	p.Val199Gly	missense variant	-	NC_000018.10:g.59269449A>C	gnomAD
rs1265408727	p.Ser200Tyr	missense variant	-	NC_000018.10:g.59269446G>T	gnomAD
rs751795362	p.Ser201Thr	missense variant	-	NC_000018.10:g.59269444A>T	ExAC,gnomAD
rs764273839	p.Ser201Tyr	missense variant	-	NC_000018.10:g.59269443G>T	ExAC,gnomAD
rs1024154654	p.Met202Leu	missense variant	-	NC_000018.10:g.59269441T>A	TOPMed,gnomAD
rs1362802684	p.Met202Lys	missense variant	-	NC_000018.10:g.59269440A>T	TOPMed,gnomAD
rs1024154654	p.Met202Leu	missense variant	-	NC_000018.10:g.59269441T>G	TOPMed,gnomAD
rs1362802684	p.Met202Thr	missense variant	-	NC_000018.10:g.59269440A>G	TOPMed,gnomAD
rs200647674	p.Leu204Met	missense variant	-	NC_000018.10:g.59269435G>T	ExAC,TOPMed,gnomAD
rs1343157423	p.Gln205Lys	missense variant	-	NC_000018.10:g.59269432G>T	gnomAD
rs766173636	p.Asp206Glu	missense variant	-	NC_000018.10:g.59269427G>T	ExAC,TOPMed,gnomAD
rs760539266	p.Ser207Leu	missense variant	-	NC_000018.10:g.59269425G>A	ExAC,gnomAD
rs1416528261	p.Ser207Ala	missense variant	-	NC_000018.10:g.59269426A>C	TOPMed
rs1429742399	p.Pro208Leu	missense variant	-	NC_000018.10:g.59269422G>A	gnomAD
rs1185520955	p.Leu209Phe	missense variant	-	NC_000018.10:g.59269420G>A	gnomAD
rs1204703912	p.Ser211Pro	missense variant	-	NC_000018.10:g.59269414A>G	TOPMed,gnomAD
COSM3526824	p.Ser213Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269408T>G	NCI-TCGA Cosmic
rs1348676659	p.Arg214Cys	missense variant	-	NC_000018.10:g.59269405G>A	TOPMed,gnomAD
rs774021432	p.Arg214Leu	missense variant	-	NC_000018.10:g.59269404C>A	ExAC,TOPMed,gnomAD
rs1230305763	p.Ser215Phe	missense variant	-	NC_000018.10:g.59269401G>A	gnomAD
rs1230305763	p.Ser215Cys	missense variant	-	NC_000018.10:g.59269401G>C	gnomAD
rs1308106678	p.Pro216Thr	missense variant	-	NC_000018.10:g.59269399G>T	gnomAD
rs1294962832	p.Ala219Glu	missense variant	-	NC_000018.10:g.59269389G>T	TOPMed,gnomAD
rs768156635	p.Ser222Trp	missense variant	-	NC_000018.10:g.59269380G>C	ExAC,gnomAD
rs1453069185	p.Pro223Leu	missense variant	-	NC_000018.10:g.59269377G>A	gnomAD
rs780512181	p.Leu224Ile	missense variant	-	NC_000018.10:g.59269375G>T	ExAC,gnomAD
rs1463481938	p.Gly225Trp	missense variant	-	NC_000018.10:g.59269372C>A	gnomAD
rs1463481938	p.Gly225Arg	missense variant	-	NC_000018.10:g.59269372C>G	gnomAD
rs1373090225	p.Gly227Asp	missense variant	-	NC_000018.10:g.59269365C>T	gnomAD
rs1169137333	p.Pro228Gln	missense variant	-	NC_000018.10:g.59269362G>T	gnomAD
rs1354991570	p.Gly231Ser	missense variant	-	NC_000018.10:g.59269354C>T	gnomAD
rs1183868195	p.Gly231Asp	missense variant	-	NC_000018.10:g.59269353C>T	gnomAD
rs1030481316	p.Gly233Trp	missense variant	-	NC_000018.10:g.59269348C>A	TOPMed,gnomAD
rs1030481316	p.Gly233Arg	missense variant	-	NC_000018.10:g.59269348C>G	TOPMed,gnomAD
rs781609155	p.Gly236Trp	missense variant	-	NC_000018.10:g.59269339C>A	ExAC,TOPMed,gnomAD
rs781609155	p.Gly236Arg	missense variant	-	NC_000018.10:g.59269339C>T	ExAC,TOPMed,gnomAD
rs1210857244	p.Gly236Glu	missense variant	-	NC_000018.10:g.59269338C>T	TOPMed
rs757339865	p.Gly237Asp	missense variant	-	NC_000018.10:g.59269335C>T	ExAC,TOPMed,gnomAD
rs1178558773	p.Ala238Val	missense variant	-	NC_000018.10:g.59269332G>A	TOPMed
rs1225320870	p.Pro240Gln	missense variant	-	NC_000018.10:g.59269326G>T	gnomAD
rs1398849685	p.Pro240Ser	missense variant	-	NC_000018.10:g.59269327G>A	TOPMed,gnomAD
rs1225320870	p.Pro240Leu	missense variant	-	NC_000018.10:g.59269326G>A	gnomAD
rs1398849685	p.Pro240Thr	missense variant	-	NC_000018.10:g.59269327G>T	TOPMed,gnomAD
rs1245562074	p.Glu242Gly	missense variant	-	NC_000018.10:g.59269320T>C	gnomAD
rs758557521	p.Gly246Arg	missense variant	-	NC_000018.10:g.59269309C>T	ExAC,TOPMed,gnomAD
rs758557521	p.Gly246Arg	missense variant	-	NC_000018.10:g.59269309C>G	ExAC,TOPMed,gnomAD
rs929905002	p.Pro247Arg	missense variant	-	NC_000018.10:g.59269305G>C	TOPMed
rs1415128508	p.Pro248Gln	missense variant	-	NC_000018.10:g.59269302G>T	TOPMed,gnomAD
rs1397116394	p.Pro250Arg	missense variant	-	NC_000018.10:g.59269296G>C	gnomAD
rs1297596197	p.Gly251Cys	missense variant	-	NC_000018.10:g.59269294C>A	gnomAD
rs1243020332	p.Gly252Arg	missense variant	-	NC_000018.10:g.59269291C>G	TOPMed,gnomAD
rs1243020332	p.Gly252Arg	missense variant	-	NC_000018.10:g.59269291C>T	TOPMed,gnomAD
rs1439948106	p.Gly253Asp	missense variant	-	NC_000018.10:g.59269287C>T	TOPMed
rs1443649592	p.Ala254Asp	missense variant	-	NC_000018.10:g.59269284G>T	gnomAD
rs981941187	p.Ala254Thr	missense variant	-	NC_000018.10:g.59269285C>T	TOPMed,gnomAD
rs1383699884	p.Thr255Met	missense variant	-	NC_000018.10:g.59269281G>A	gnomAD
NCI-TCGA novel	p.Ala256Gly	missense variant	-	NC_000018.10:g.59269278G>C	NCI-TCGA
rs568443004	p.Ala256Val	missense variant	-	NC_000018.10:g.59269278G>A	1000Genomes,TOPMed,gnomAD
rs568443004	p.Ala256Glu	missense variant	-	NC_000018.10:g.59269278G>T	1000Genomes,TOPMed,gnomAD
rs916632882	p.Ser259Ile	missense variant	-	NC_000018.10:g.59269269C>A	TOPMed,gnomAD
rs1292617720	p.Leu260Met	missense variant	-	NC_000018.10:g.59269267G>T	gnomAD
rs1221950763	p.Pro261Ser	missense variant	-	NC_000018.10:g.59269264G>A	gnomAD
rs1357553942	p.Pro261Arg	missense variant	-	NC_000018.10:g.59269263G>C	TOPMed,gnomAD
rs1357553942	p.Pro261Gln	missense variant	-	NC_000018.10:g.59269263G>T	TOPMed,gnomAD
rs1357553942	p.Pro261Leu	missense variant	-	NC_000018.10:g.59269263G>A	TOPMed,gnomAD
rs1240899262	p.Gly262Ser	missense variant	-	NC_000018.10:g.59269261C>T	gnomAD
rs1234330530	p.Gly264Ala	missense variant	-	NC_000018.10:g.59269254C>G	TOPMed
rs1331463555	p.Gly264Arg	missense variant	-	NC_000018.10:g.59269255C>G	TOPMed
rs958025641	p.Pro265Thr	missense variant	-	NC_000018.10:g.59269252G>T	TOPMed
rs1032334540	p.Pro266Leu	missense variant	-	NC_000018.10:g.59269248G>A	TOPMed
rs760516983	p.Ala267Val	missense variant	-	NC_000018.10:g.59269245G>A	ExAC,TOPMed,gnomAD
rs1342141311	p.Gln268Arg	missense variant	-	NC_000018.10:g.59269242T>C	TOPMed
rs1303236190	p.Ser269Arg	missense variant	-	NC_000018.10:g.59269238G>T	gnomAD
rs1388119920	p.Pro271Leu	missense variant	-	NC_000018.10:g.59269233G>A	gnomAD
rs1423526538	p.Pro271Ser	missense variant	-	NC_000018.10:g.59269234G>A	gnomAD
rs550373835	p.Ala272Thr	missense variant	-	NC_000018.10:g.59269231C>T	1000Genomes,TOPMed,gnomAD
rs767391972	p.Ser273Asn	missense variant	-	NC_000018.10:g.59269227C>T	ExAC,TOPMed,gnomAD
rs1460420020	p.Thr275Ala	missense variant	-	NC_000018.10:g.59269222T>C	gnomAD
rs1481712814	p.Thr275Lys	missense variant	-	NC_000018.10:g.59269221G>T	gnomAD
rs1481712814	p.Thr275Met	missense variant	-	NC_000018.10:g.59269221G>A	gnomAD
rs761843861	p.Pro277Leu	missense variant	-	NC_000018.10:g.59269215G>A	ExAC,gnomAD
rs761843861	p.Pro277Gln	missense variant	-	NC_000018.10:g.59269215G>T	ExAC,gnomAD
rs1286579919	p.Pro278Ser	missense variant	-	NC_000018.10:g.59269213G>A	gnomAD
RCV000358332	p.Pro279Ala	missense variant	-	NC_000018.10:g.59269210G>C	ClinVar
rs886054025	p.Pro279Ser	missense variant	-	NC_000018.10:g.59269210G>A	gnomAD
rs1259942750	p.Pro279Arg	missense variant	-	NC_000018.10:g.59269209G>C	gnomAD
rs886054025	p.Pro279Ala	missense variant	-	NC_000018.10:g.59269210G>C	gnomAD
rs368382344	p.Pro280Thr	missense variant	-	NC_000018.10:g.59269207G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro280His	missense variant	-	NC_000018.10:g.59269206G>T	NCI-TCGA
rs1283915095	p.Pro282Ser	missense variant	-	NC_000018.10:g.59269201G>A	TOPMed,gnomAD
rs1328892844	p.Phe283Leu	missense variant	-	NC_000018.10:g.59269196G>C	gnomAD
rs1007084817	p.Leu284Arg	missense variant	-	NC_000018.10:g.59269194A>C	TOPMed,gnomAD
rs762631419	p.Ser286Phe	missense variant	-	NC_000018.10:g.59269188G>A	ExAC,TOPMed,gnomAD
rs762631419	p.Ser286Cys	missense variant	-	NC_000018.10:g.59269188G>C	ExAC,TOPMed,gnomAD
rs768229657	p.Ser286Pro	missense variant	-	NC_000018.10:g.59269189A>G	ExAC,TOPMed,gnomAD
rs768229657	p.Ser286Thr	missense variant	-	NC_000018.10:g.59269189A>T	ExAC,TOPMed,gnomAD
rs762631419	p.Ser286Tyr	missense variant	-	NC_000018.10:g.59269188G>T	ExAC,TOPMed,gnomAD
rs1430587459	p.Pro287Leu	missense variant	-	NC_000018.10:g.59269185G>A	TOPMed,gnomAD
rs1471196907	p.Pro287Thr	missense variant	-	NC_000018.10:g.59269186G>T	gnomAD
rs1430587459	p.Pro287Gln	missense variant	-	NC_000018.10:g.59269185G>T	TOPMed,gnomAD
rs1430587459	p.Pro287Arg	missense variant	-	NC_000018.10:g.59269185G>C	TOPMed,gnomAD
rs538022273	p.Pro288Gln	missense variant	-	NC_000018.10:g.59269182G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770271072	p.Leu289Phe	missense variant	-	NC_000018.10:g.59269178C>A	ExAC,TOPMed,gnomAD
rs746285051	p.Gly290Ser	missense variant	-	NC_000018.10:g.59269177C>T	ExAC,gnomAD
rs1206575281	p.Pro291Leu	missense variant	-	NC_000018.10:g.59269173G>A	gnomAD
rs1259995386	p.Pro291Ser	missense variant	-	NC_000018.10:g.59269174G>A	gnomAD
NCI-TCGA novel	p.Pro291His	missense variant	-	NC_000018.10:g.59269173G>T	NCI-TCGA
rs777646611	p.Gly292Ser	missense variant	-	NC_000018.10:g.59269171C>T	ExAC,gnomAD
rs1222857904	p.Gly292Val	missense variant	-	NC_000018.10:g.59269170C>A	gnomAD
rs1227616069	p.Gln294Ter	stop gained	-	NC_000018.10:g.59269165G>A	gnomAD
rs1325479694	p.Gln294Leu	missense variant	-	NC_000018.10:g.59269164T>A	gnomAD
rs1454893350	p.Pro295Ser	missense variant	-	NC_000018.10:g.59269162G>A	gnomAD
rs916435844	p.Leu296Phe	missense variant	-	NC_000018.10:g.59269159G>A	TOPMed,gnomAD
rs1487786504	p.Ala297Glu	missense variant	-	NC_000018.10:g.59269155G>T	TOPMed
rs748352451	p.Ala297Ser	missense variant	-	NC_000018.10:g.59269156C>A	ExAC,TOPMed,gnomAD
rs748352451	p.Ala297Pro	missense variant	-	NC_000018.10:g.59269156C>G	ExAC,TOPMed,gnomAD
rs755869635	p.Pro299Leu	missense variant	-	NC_000018.10:g.59269149G>A	ExAC,TOPMed,gnomAD
rs755869635	p.Pro299Gln	missense variant	-	NC_000018.10:g.59269149G>T	ExAC,TOPMed,gnomAD
rs750142920	p.Pro301Leu	missense variant	-	NC_000018.10:g.59269143G>A	ExAC,TOPMed,gnomAD
rs121909128	p.Tyr303Ter	stop gained	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59269136G>C	-
RCV000008077	p.Tyr303Ter	nonsense	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59269136G>C	ClinVar
rs1388527781	p.Pro304Arg	missense variant	-	NC_000018.10:g.59269134G>C	gnomAD
rs767370608	p.Pro304Ser	missense variant	-	NC_000018.10:g.59269135G>A	ExAC,gnomAD
rs767370608	p.Pro304Thr	missense variant	-	NC_000018.10:g.59269135G>T	ExAC,gnomAD
rs763693479	p.Cys305Trp	missense variant	-	NC_000018.10:g.59269130G>C	ExAC,TOPMed,gnomAD
COSM4932809	p.Cys305Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269132A>T	NCI-TCGA Cosmic
rs552408691	p.Gly306Val	missense variant	-	NC_000018.10:g.59269128C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs866212043	p.Gly306Arg	missense variant	-	NC_000018.10:g.59269129C>T	TOPMed,gnomAD
rs552408691	p.Gly306Ala	missense variant	-	NC_000018.10:g.59269128C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1202888373	p.Pro307Ser	missense variant	-	NC_000018.10:g.59269126G>A	gnomAD
rs1195859063	p.Gly308Asp	missense variant	-	NC_000018.10:g.59269122C>T	TOPMed,gnomAD
rs765024850	p.Gly308Arg	missense variant	-	NC_000018.10:g.59269123C>G	ExAC,TOPMed,gnomAD
rs765024850	p.Gly308Ser	missense variant	-	NC_000018.10:g.59269123C>T	ExAC,TOPMed,gnomAD
RCV000267034	p.Gly308Ser	missense variant	-	NC_000018.10:g.59269123C>T	ClinVar
rs1312676073	p.Phe309Leu	missense variant	-	NC_000018.10:g.59269120A>G	TOPMed
rs776800244	p.Gly310Arg	missense variant	-	NC_000018.10:g.59269117C>G	ExAC,TOPMed,gnomAD
rs776800244	p.Gly310Trp	missense variant	-	NC_000018.10:g.59269117C>A	ExAC,TOPMed,gnomAD
rs776800244	p.Gly310Arg	missense variant	-	NC_000018.10:g.59269117C>T	ExAC,TOPMed,gnomAD
rs771327640	p.Asp311Gly	missense variant	-	NC_000018.10:g.59269113T>C	ExAC,TOPMed,gnomAD
rs964898566	p.Lys312Met	missense variant	-	NC_000018.10:g.59269110T>A	TOPMed,gnomAD
rs1247754205	p.Lys312Ter	stop gained	-	NC_000018.10:g.59269111T>A	gnomAD
COSM4072792	p.Lys312Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269110T>G	NCI-TCGA Cosmic
rs1262066784	p.Phe313Leu	missense variant	-	NC_000018.10:g.59269106G>C	TOPMed
rs747463549	p.Pro314Leu	missense variant	-	NC_000018.10:g.59269104G>A	ExAC,gnomAD
rs747463549	p.Pro314Gln	missense variant	-	NC_000018.10:g.59269104G>T	ExAC,gnomAD
rs748266486	p.Asp316His	missense variant	-	NC_000018.10:g.59269099C>G	ExAC,TOPMed,gnomAD
rs1409423728	p.Glu317Asp	missense variant	-	NC_000018.10:g.59269094C>G	gnomAD
rs778993934	p.Glu317Lys	missense variant	-	NC_000018.10:g.59269096C>T	ExAC,TOPMed,gnomAD
rs1368829275	p.Asp319Asn	missense variant	-	NC_000018.10:g.59269090C>T	TOPMed,gnomAD
rs199988037	p.Pro320Leu	missense variant	-	NC_000018.10:g.59269086G>A	ExAC,TOPMed,gnomAD
rs199988037	p.Pro320Gln	missense variant	-	NC_000018.10:g.59269086G>T	ExAC,TOPMed,gnomAD
rs755146144	p.Pro320Ser	missense variant	-	NC_000018.10:g.59269087G>A	ExAC,gnomAD
rs757143543	p.Arg321Cys	missense variant	-	NC_000018.10:g.59269084G>A	ExAC,gnomAD
rs751442146	p.Arg321His	missense variant	-	NC_000018.10:g.59269083C>T	ExAC,gnomAD
rs764180472	p.Ser323Gly	missense variant	-	NC_000018.10:g.59269078T>C	ExAC,TOPMed,gnomAD
rs1234510335	p.Ser323Asn	missense variant	-	NC_000018.10:g.59269077C>T	gnomAD
rs764850881	p.Ala326Val	missense variant	-	NC_000018.10:g.59269068G>A	ExAC,gnomAD
rs1347145909	p.Ala327Val	missense variant	-	NC_000018.10:g.59269065G>A	TOPMed
rs759040170	p.Leu328Gln	missense variant	-	NC_000018.10:g.59269062A>T	ExAC,gnomAD
rs1290653439	p.Arg329Pro	missense variant	-	NC_000018.10:g.59269059C>G	gnomAD
COSM4855893	p.Arg329Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269060G>A	NCI-TCGA Cosmic
rs527976702	p.Ala332Asp	missense variant	-	NC_000018.10:g.59269050G>T	1000Genomes,ExAC,gnomAD
rs1376038863	p.Ala332Ser	missense variant	-	NC_000018.10:g.59269051C>A	TOPMed,gnomAD
rs896866240	p.Lys333Arg	missense variant	-	NC_000018.10:g.59269047T>C	TOPMed,gnomAD
rs1348646573	p.Glu334Ter	stop gained	-	NC_000018.10:g.59269045C>A	gnomAD
rs1305034590	p.Glu334Val	missense variant	-	NC_000018.10:g.59269044T>A	gnomAD
rs1307630585	p.His335Arg	missense variant	-	NC_000018.10:g.59269041T>C	TOPMed
rs772527097	p.Gln337His	missense variant	-	NC_000018.10:g.59269034C>G	ExAC,gnomAD
rs1403357942	p.Ala338Asp	missense variant	-	NC_000018.10:g.59269032G>T	gnomAD
rs1403357942	p.Ala338Val	missense variant	-	NC_000018.10:g.59269032G>A	gnomAD
rs558964922	p.Ile339Val	missense variant	-	NC_000018.10:g.59269030T>C	1000Genomes
rs1194859377	p.Ile339Met	missense variant	-	NC_000018.10:g.59269028G>C	gnomAD
NCI-TCGA novel	p.Gly340Trp	missense variant	-	NC_000018.10:g.59269027C>A	NCI-TCGA
rs1409927944	p.Pro342Thr	missense variant	-	NC_000018.10:g.59269021G>T	gnomAD
rs191858058	p.Pro342Gln	missense variant	-	NC_000018.10:g.59269020G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1200942266	p.Trp343Ter	stop gained	-	NC_000018.10:g.59269016C>T	gnomAD
rs1046304688	p.Trp343Leu	missense variant	-	NC_000018.10:g.59269017C>A	TOPMed,gnomAD
rs774359550	p.Ala345Val	missense variant	-	NC_000018.10:g.59269011G>A	ExAC,gnomAD
rs774359550	p.Ala345Asp	missense variant	-	NC_000018.10:g.59269011G>T	ExAC,gnomAD
rs1256141890	p.Leu346Arg	missense variant	-	NC_000018.10:g.59269008A>C	TOPMed
rs1013951443	p.Leu346Phe	missense variant	-	NC_000018.10:g.59269009G>A	TOPMed,gnomAD
rs1013951443	p.Leu346Ile	missense variant	-	NC_000018.10:g.59269009G>T	TOPMed,gnomAD
rs1285407011	p.Ter347Tyr	stop lost	-	NC_000018.10:g.59269004C>G	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003119	Anophthalmos	disease	BEFREE;CTD_human;HPO;LHGDN
C0025202	melanoma	disease	CTD_human
C0026010	Microphthalmos	disease	BEFREE;HPO
C0042769	Virus Diseases	group	BEFREE
C0266999	Vesicular Stomatitis	disease	BEFREE
C0339182	Ankyloblepharon	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C1302999	Ankyloblepharon filiforme adnatum	disease	HPO
C1853235	Sclerocornea	disease	BEFREE;HPO
C1855052	MICROPHTHALMIA, ISOLATED 1	disease	ORPHANET
C1970237	Microphthalmia, Isolated 3	disease	CLINVAR;CTD_human;UNIPROT
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:0000978	RNA polymerase II cis-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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007389	pattern specification process	IEA
GO:0007601	visual perception	TAS
GO:0021854	hypothalamus development	IEA
GO:0043010	camera-type eye development	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0060173	limb development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of RAX mRNA	27840820
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAX 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 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of RAX mRNA	22230336
D020106	Acrylamide	Acrylamide results in decreased expression of RAX mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of RAX gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of RAX mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of RAX promoter	23974009
C487081	belinostat	belinostat results in decreased expression of RAX mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAX mRNA	27188386
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of RAX mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of RAX mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of RAX mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of RAX mRNA	30951980
D003300	Copper	Copper deficiency results in increased expression of RAX mRNA	26033743
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of RAX mRNA	23640034
D003976	Diazinon	Diazinon results in increased methylation of RAX gene	22964155
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAX mRNA	27188386
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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX 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 decreased expression of RAX mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of RAX 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 decreased expression of RAX mRNA	27188386
C008261	lead acetate	lead acetate results in increased expression of RAX mRNA	22609695
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of RAX mRNA	28001369
C568376	MT19c compound	MT19c compound results in decreased expression of RAX mRNA	21781307
D009151	Mustard Gas	Mustard Gas results in increased expression of RAX mRNA	15674843
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 decreased expression of RAX mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of RAX mRNA	26272509
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 decreased expression of RAX mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of RAX mRNA	26272509
C005556	propionaldehyde	propionaldehyde results in decreased expression of RAX mRNA	26079696
C017947	sodium arsenite	sodium arsenite results in increased expression of RAX mRNA	17879257
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RAX mRNA	24058054
D014212	Tretinoin	Tretinoin results in decreased expression of RAX mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of RAX mRNA	23724009
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 decreased expression of RAX mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of RAX 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 decreased expression of RAX mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of RAX mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of RAX gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of RAX mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of RAX 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 decreased expression of RAX mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-1013	Microphthalmia
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
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: RAX

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

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