CleftGeneDB-Search

Gene: GAS1

Basic information

Tag	Content
Uniprot ID	P54826; B9EGM4; Q6B086;
Entrez ID	2619
Genbank protein ID	AAH74908.1; AAI32683.1; AAI36587.1; AAA72368.1; AAH74809.1;
Genbank nucleotide ID	NM_002048.2
Ensembl protein ID	ENSP00000298743
Ensembl nucleotide ID	ENSG00000180447
Gene name	Growth arrest-specific protein 1
Gene symbol	GAS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells.
Sequence	MVAALLGGGG EARGGTVPGA WLCLMALLQL LGSAPRGSGL AHGRRLICWQ ALLQCQGEPE 60 CSYAYNQYAE ACAPVLAQHG GGDAPGAAAA AFPASAASFS SRWRCPSHCI SALIQLNHTR 120 RGPALEDCDC AQDENCKSTK RAIEPCLPRT SGGGAGGPGA GGVMGCTEAR RRCDRDSRCN 180 LALSRYLTYC GKVFNGLRCT DECRTVIEDM LAMPKAALLN DCVCDGLERP ICESVKENMA 240 RLCFGAELGN GPGSSGSDGG LDDYYDEDYD DEQRTGGAGG EQPLDDDDGV PHPPRPGSGA 300 AASGGRGDLP YGPGRRSSGG GGRLAPRGAW TPLASILLLL LGPLF 345

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	GAS1		A0A452DUH3			Capra hircus	Prediction	More>>
1:1 ortholog	GAS1	2619	P54826			Homo sapiens	Prediction	More>>
1:1 ortholog	Gas1	14451	Q01721	CPO	E13.0, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	GAS1		A0A2I3SJR6			Pan troglodytes	Prediction	More>>
1:1 ortholog	Gas1	683470	M0RBH9			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1218187902	p.Ala3Val	missense variant	-	NC_000009.12:g.86946772G>A	TOPMed,gnomAD
rs1488388762	p.Ala4Thr	missense variant	-	NC_000009.12:g.86946770C>T	TOPMed,gnomAD
rs902885236	p.Leu6Val	missense variant	-	NC_000009.12:g.86946764G>C	TOPMed,gnomAD
rs1244207601	p.Gly8Ser	missense variant	-	NC_000009.12:g.86946758C>T	gnomAD
rs1023936786	p.Gly9Val	missense variant	-	NC_000009.12:g.86946754C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu11Ter	stop gained	-	NC_000009.12:g.86946749C>A	NCI-TCGA
rs1352692407	p.Glu11Gly	missense variant	-	NC_000009.12:g.86946748T>C	TOPMed
rs1055916094	p.Ala12Val	missense variant	-	NC_000009.12:g.86946745G>A	TOPMed,gnomAD
rs941573406	p.Arg13Pro	missense variant	-	NC_000009.12:g.86946742C>G	TOPMed,gnomAD
rs1361845958	p.Gly14Val	missense variant	-	NC_000009.12:g.86946739C>A	TOPMed,gnomAD
rs1325223940	p.Gly14Arg	missense variant	-	NC_000009.12:g.86946740C>T	gnomAD
rs746167176	p.Gly15Arg	missense variant	-	NC_000009.12:g.86946737C>T	ExAC,TOPMed,gnomAD
rs1051215514	p.Gly15Glu	missense variant	-	NC_000009.12:g.86946736C>T	gnomAD
NCI-TCGA novel	p.Thr16Lys	missense variant	-	NC_000009.12:g.86946733G>T	NCI-TCGA
rs1400733341	p.Thr16Ile	missense variant	-	NC_000009.12:g.86946733G>A	gnomAD
rs1346605821	p.Pro18Ser	missense variant	-	NC_000009.12:g.86946728G>A	TOPMed
rs1437660315	p.Pro18Leu	missense variant	-	NC_000009.12:g.86946727G>A	gnomAD
rs1301589881	p.Leu22Met	missense variant	-	NC_000009.12:g.86946716G>T	gnomAD
rs1293801374	p.Leu24Val	missense variant	-	NC_000009.12:g.86946710G>C	TOPMed
rs1320726884	p.Ser33Leu	missense variant	-	NC_000009.12:g.86946682G>A	TOPMed,gnomAD
rs934239304	p.Ala34Val	missense variant	-	NC_000009.12:g.86946679G>A	TOPMed
rs779176912	p.Pro35Arg	missense variant	-	NC_000009.12:g.86946676G>C	ExAC,gnomAD
rs1477888822	p.Arg36Trp	missense variant	-	NC_000009.12:g.86946674G>A	TOPMed,gnomAD
rs1267714849	p.Arg36Pro	missense variant	-	NC_000009.12:g.86946673C>G	TOPMed,gnomAD
rs1267714849	p.Arg36Gln	missense variant	-	NC_000009.12:g.86946673C>T	TOPMed,gnomAD
rs1430288821	p.Gly37Val	missense variant	-	NC_000009.12:g.86946670C>A	TOPMed
rs1452978295	p.Ala41Val	missense variant	-	NC_000009.12:g.86946658G>A	gnomAD
rs1290964158	p.His42Arg	missense variant	-	NC_000009.12:g.86946655T>C	gnomAD
rs1195620086	p.His42Gln	missense variant	-	NC_000009.12:g.86946654G>C	TOPMed,gnomAD
rs1337981800	p.Gly43Ser	missense variant	-	NC_000009.12:g.86946653C>T	gnomAD
rs1365818087	p.Arg44Cys	missense variant	-	NC_000009.12:g.86946650G>A	TOPMed
rs1219315557	p.Arg44His	missense variant	-	NC_000009.12:g.86946649C>T	TOPMed,gnomAD
rs922820794	p.Arg45Gly	missense variant	-	NC_000009.12:g.86946647G>C	TOPMed,gnomAD
rs1438800108	p.Leu46Phe	missense variant	-	NC_000009.12:g.86946644G>A	gnomAD
rs1166261618	p.Leu46Arg	missense variant	-	NC_000009.12:g.86946643A>C	gnomAD
rs1418656911	p.Ile47Phe	missense variant	-	NC_000009.12:g.86946641T>A	TOPMed,gnomAD
rs1418656911	p.Ile47Leu	missense variant	-	NC_000009.12:g.86946641T>G	TOPMed,gnomAD
rs1292539022	p.Ile47Thr	missense variant	-	NC_000009.12:g.86946640A>G	TOPMed
rs1323927695	p.Ala51Val	missense variant	-	NC_000009.12:g.86946628G>A	gnomAD
rs1409202005	p.Leu53Val	missense variant	-	NC_000009.12:g.86946623G>C	gnomAD
rs1451036525	p.Gly57Trp	missense variant	-	NC_000009.12:g.86946611C>A	TOPMed,gnomAD
rs1465687278	p.Glu58Ter	stop gained	-	NC_000009.12:g.86946608C>A	gnomAD
rs976798250	p.Glu58Asp	missense variant	-	NC_000009.12:g.86946606C>A	TOPMed,gnomAD
rs748874081	p.Glu60Gln	missense variant	-	NC_000009.12:g.86946602C>G	ExAC,TOPMed,gnomAD
rs748874081	p.Glu60Lys	missense variant	-	NC_000009.12:g.86946602C>T	ExAC,TOPMed,gnomAD
rs1418749353	p.Glu60Ala	missense variant	-	NC_000009.12:g.86946601T>G	TOPMed
rs1431946935	p.Asn66Tyr	missense variant	-	NC_000009.12:g.86946584T>A	TOPMed
rs1302561777	p.Tyr68Ser	missense variant	-	NC_000009.12:g.86946577T>G	TOPMed
rs1260544074	p.Ala69Ser	missense variant	-	NC_000009.12:g.86946575C>A	TOPMed,gnomAD
rs1260544074	p.Ala69Pro	missense variant	-	NC_000009.12:g.86946575C>G	TOPMed,gnomAD
rs1323465801	p.Glu70Gln	missense variant	-	NC_000009.12:g.86946572C>G	gnomAD
rs777526325	p.Cys72Ser	missense variant	-	NC_000009.12:g.86946565C>G	ExAC,gnomAD
rs1221050677	p.Ala73Glu	missense variant	-	NC_000009.12:g.86946562G>T	gnomAD
rs568303782	p.Pro74Leu	missense variant	-	NC_000009.12:g.86946559G>A	1000Genomes,TOPMed,gnomAD
rs568303782	p.Pro74Arg	missense variant	-	NC_000009.12:g.86946559G>C	1000Genomes,TOPMed,gnomAD
rs1459945620	p.Val75Met	missense variant	-	NC_000009.12:g.86946557C>T	TOPMed
rs1032793536	p.Leu76Val	missense variant	-	NC_000009.12:g.86946554G>C	TOPMed,gnomAD
rs1469167397	p.Ala77Thr	missense variant	-	NC_000009.12:g.86946551C>T	TOPMed
rs1469167397	p.Ala77Pro	missense variant	-	NC_000009.12:g.86946551C>G	TOPMed
rs1374473470	p.Ala77Glu	missense variant	-	NC_000009.12:g.86946550G>T	gnomAD
rs755684527	p.Gly80Ala	missense variant	-	NC_000009.12:g.86946541C>G	ExAC,TOPMed,gnomAD
rs1271427940	p.Gly80Ser	missense variant	-	NC_000009.12:g.86946542C>T	gnomAD
rs1303109897	p.Gly82Ser	missense variant	-	NC_000009.12:g.86946536C>T	TOPMed,gnomAD
rs1173303864	p.Gly82Asp	missense variant	-	NC_000009.12:g.86946535C>T	gnomAD
rs781205733	p.Asp83Glu	missense variant	-	NC_000009.12:g.86946531G>C	ExAC,TOPMed,gnomAD
rs1415730292	p.Asp83Tyr	missense variant	-	NC_000009.12:g.86946533C>A	TOPMed,gnomAD
rs1415730292	p.Asp83Asn	missense variant	-	NC_000009.12:g.86946533C>T	TOPMed,gnomAD
rs1415730292	p.Asp83His	missense variant	-	NC_000009.12:g.86946533C>G	TOPMed,gnomAD
rs754995675	p.Gly86Arg	missense variant	-	NC_000009.12:g.86946524C>T	ExAC,TOPMed,gnomAD
rs1282456773	p.Ala87Asp	missense variant	-	NC_000009.12:g.86946520G>T	TOPMed
rs1282456773	p.Ala87Val	missense variant	-	NC_000009.12:g.86946520G>A	TOPMed
rs1013928267	p.Ala87Thr	missense variant	-	NC_000009.12:g.86946521C>T	TOPMed,gnomAD
rs1013928267	p.Ala87Ser	missense variant	-	NC_000009.12:g.86946521C>A	TOPMed,gnomAD
rs1240348643	p.Ala88Thr	missense variant	-	NC_000009.12:g.86946518C>T	TOPMed,gnomAD
rs1201859811	p.Ala89Thr	missense variant	-	NC_000009.12:g.86946515C>T	TOPMed
rs1201859811	p.Ala89Pro	missense variant	-	NC_000009.12:g.86946515C>G	TOPMed
rs1236278230	p.Ala90Ser	missense variant	-	NC_000009.12:g.86946512C>A	TOPMed,gnomAD
rs1236278230	p.Ala90Thr	missense variant	-	NC_000009.12:g.86946512C>T	TOPMed,gnomAD
rs1427719389	p.Ala90Val	missense variant	-	NC_000009.12:g.86946511G>A	TOPMed
rs1312910961	p.Ala91Thr	missense variant	-	NC_000009.12:g.86946509C>T	TOPMed,gnomAD
rs1396419913	p.Ala91Val	missense variant	-	NC_000009.12:g.86946508G>A	TOPMed
rs1312910961	p.Ala91Pro	missense variant	-	NC_000009.12:g.86946509C>G	TOPMed,gnomAD
rs1283824513	p.Pro93Leu	missense variant	-	NC_000009.12:g.86946502G>A	gnomAD
rs888648250	p.Ala94Val	missense variant	-	NC_000009.12:g.86946499G>A	TOPMed
rs766061802	p.Ser95Trp	missense variant	-	NC_000009.12:g.86946496G>C	ExAC,TOPMed,gnomAD
rs766061802	p.Ser95Leu	missense variant	-	NC_000009.12:g.86946496G>A	ExAC,TOPMed,gnomAD
rs1447297488	p.Ala96Val	missense variant	-	NC_000009.12:g.86946493G>A	gnomAD
rs1311119475	p.Ala96Thr	missense variant	-	NC_000009.12:g.86946494C>T	gnomAD
rs1301076077	p.Ala97Ser	missense variant	-	NC_000009.12:g.86946491C>A	TOPMed,gnomAD
rs1301076077	p.Ala97Thr	missense variant	-	NC_000009.12:g.86946491C>T	TOPMed,gnomAD
rs1449575282	p.Ser98Phe	missense variant	-	NC_000009.12:g.86946487G>A	gnomAD
rs901428369	p.Ser100Pro	missense variant	-	NC_000009.12:g.86946482A>G	TOPMed
rs1359167957	p.Ser100Leu	missense variant	-	NC_000009.12:g.86946481G>A	TOPMed,gnomAD
rs1359167957	p.Ser100Trp	missense variant	-	NC_000009.12:g.86946481G>C	TOPMed,gnomAD
rs762845548	p.Trp103Cys	missense variant	-	NC_000009.12:g.86946471C>G	ExAC,gnomAD
rs1159601806	p.Arg104His	missense variant	-	NC_000009.12:g.86946469C>T	gnomAD
rs1444462168	p.Cys105Tyr	missense variant	-	NC_000009.12:g.86946466C>T	gnomAD
rs1184183811	p.Pro106Arg	missense variant	-	NC_000009.12:g.86946463G>C	gnomAD
rs1483868630	p.Ser107Asn	missense variant	-	NC_000009.12:g.86946460C>T	gnomAD
rs1241534196	p.Cys109Tyr	missense variant	-	NC_000009.12:g.86946454C>T	gnomAD
rs1489370929	p.Ile114Val	missense variant	-	NC_000009.12:g.86946440T>C	gnomAD
rs1424108116	p.His118Arg	missense variant	-	NC_000009.12:g.86946427T>C	TOPMed
rs1420407216	p.His118Asp	missense variant	-	NC_000009.12:g.86946428G>C	TOPMed
rs760688479	p.Arg121Leu	missense variant	-	NC_000009.12:g.86946418C>A	ExAC,gnomAD
rs764355861	p.Arg121Cys	missense variant	-	NC_000009.12:g.86946419G>A	ExAC,gnomAD
rs942754517	p.Pro123His	missense variant	-	NC_000009.12:g.86946412G>T	TOPMed,gnomAD
rs942754517	p.Pro123Leu	missense variant	-	NC_000009.12:g.86946412G>A	TOPMed,gnomAD
rs1301312985	p.Ala124Val	missense variant	-	NC_000009.12:g.86946409G>A	TOPMed
rs1367711842	p.Leu125Val	missense variant	-	NC_000009.12:g.86946407G>C	TOPMed
rs1424420919	p.Asp127Tyr	missense variant	-	NC_000009.12:g.86946401C>A	gnomAD
rs1348435065	p.Asp129Glu	missense variant	-	NC_000009.12:g.86946393G>C	gnomAD
rs772529497	p.Gln132Glu	missense variant	-	NC_000009.12:g.86946386G>C	ExAC,gnomAD
rs759982942	p.Gln132His	missense variant	-	NC_000009.12:g.86946384C>A	ExAC,TOPMed,gnomAD
rs1478876505	p.Asp133Asn	missense variant	-	NC_000009.12:g.86946383C>T	gnomAD
rs774972884	p.Glu134Lys	missense variant	-	NC_000009.12:g.86946380C>T	ExAC,TOPMed,gnomAD
rs774972884	p.Glu134Gln	missense variant	-	NC_000009.12:g.86946380C>G	ExAC,TOPMed,gnomAD
rs771173456	p.Glu134Asp	missense variant	-	NC_000009.12:g.86946378C>G	ExAC,gnomAD
rs1487634769	p.Asn135Lys	missense variant	-	NC_000009.12:g.86946375G>C	TOPMed,gnomAD
rs1288896245	p.Lys137Glu	missense variant	-	NC_000009.12:g.86946371T>C	TOPMed
rs749732161	p.Thr139Ile	missense variant	-	NC_000009.12:g.86946364G>A	ExAC,gnomAD
rs924002473	p.Arg141Gly	missense variant	-	NC_000009.12:g.86946359G>C	TOPMed
rs1223529596	p.Arg141His	missense variant	-	NC_000009.12:g.86946358C>T	gnomAD
rs1277548531	p.Ile143Thr	missense variant	-	NC_000009.12:g.86946352A>G	gnomAD
rs1216245443	p.Glu144Gly	missense variant	-	NC_000009.12:g.86946349T>C	TOPMed,gnomAD
rs1278286175	p.Pro145Arg	missense variant	-	NC_000009.12:g.86946346G>C	gnomAD
rs977225070	p.Leu147Met	missense variant	-	NC_000009.12:g.86946341G>T	TOPMed
rs1280120201	p.Arg149Trp	missense variant	-	NC_000009.12:g.86946335G>A	gnomAD
rs1365080461	p.Thr150Arg	missense variant	-	NC_000009.12:g.86946331G>C	TOPMed,gnomAD
rs1365080461	p.Thr150Lys	missense variant	-	NC_000009.12:g.86946331G>T	TOPMed,gnomAD
rs1365080461	p.Thr150Met	missense variant	-	NC_000009.12:g.86946331G>A	TOPMed,gnomAD
rs1295614158	p.Gly152Arg	missense variant	-	NC_000009.12:g.86946326C>G	gnomAD
rs1295614158	p.Gly152Ser	missense variant	-	NC_000009.12:g.86946326C>T	gnomAD
rs1354450082	p.Ala155Ser	missense variant	-	NC_000009.12:g.86946317C>A	gnomAD
rs1424351822	p.Gly157Ser	missense variant	-	NC_000009.12:g.86946311C>T	TOPMed,gnomAD
rs1424351822	p.Gly157Arg	missense variant	-	NC_000009.12:g.86946311C>G	TOPMed,gnomAD
rs993153385	p.Pro158Thr	missense variant	-	NC_000009.12:g.86946308G>T	TOPMed
rs1365866741	p.Pro158Arg	missense variant	-	NC_000009.12:g.86946307G>C	TOPMed
rs1365866741	p.Pro158Leu	missense variant	-	NC_000009.12:g.86946307G>A	TOPMed
rs993153385	p.Pro158Ala	missense variant	-	NC_000009.12:g.86946308G>C	TOPMed
rs769586642	p.Gly161Val	missense variant	-	NC_000009.12:g.86946298C>A	ExAC,gnomAD
rs1192681620	p.Gly162Val	missense variant	-	NC_000009.12:g.86946295C>A	gnomAD
rs1269782536	p.Gly162Arg	missense variant	-	NC_000009.12:g.86946296C>T	gnomAD
rs1196608625	p.Met164Arg	missense variant	-	NC_000009.12:g.86946289A>C	gnomAD
rs1259794190	p.Thr167Ile	missense variant	-	NC_000009.12:g.86946280G>A	TOPMed
rs1005191877	p.Arg170Trp	missense variant	-	NC_000009.12:g.86946272G>A	TOPMed
rs1319933422	p.Arg171Gln	missense variant	-	NC_000009.12:g.86946268C>T	gnomAD
rs1258090972	p.Arg172His	missense variant	-	NC_000009.12:g.86946265C>T	gnomAD
rs1387704325	p.Ser177Arg	missense variant	-	NC_000009.12:g.86946251T>G	gnomAD
NCI-TCGA novel	p.Arg178His	missense variant	-	NC_000009.12:g.86946247C>T	NCI-TCGA
rs1329745070	p.Asn180His	missense variant	-	NC_000009.12:g.86946242T>G	TOPMed,gnomAD
rs1449588314	p.Ala182Val	missense variant	-	NC_000009.12:g.86946235G>A	gnomAD
rs1464302014	p.Leu183Val	missense variant	-	NC_000009.12:g.86946233G>C	TOPMed,gnomAD
rs780104648	p.Ser184Arg	missense variant	-	NC_000009.12:g.86946228G>C	ExAC,TOPMed,gnomAD
rs1464648622	p.Arg185Gly	missense variant	-	NC_000009.12:g.86946227G>C	gnomAD
rs758112692	p.Tyr186Ser	missense variant	-	NC_000009.12:g.86946223T>G	ExAC,gnomAD
rs758112692	p.Tyr186Cys	missense variant	-	NC_000009.12:g.86946223T>C	ExAC,gnomAD
rs764235371	p.Thr188Ala	missense variant	-	NC_000009.12:g.86946218T>C	ExAC,gnomAD
rs549876121	p.Thr188Ile	missense variant	-	NC_000009.12:g.86946217G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1025359669	p.Tyr189Cys	missense variant	-	NC_000009.12:g.86946214T>C	TOPMed,gnomAD
rs1238757584	p.Tyr189Asp	missense variant	-	NC_000009.12:g.86946215A>C	gnomAD
rs1233444559	p.Gly191Ser	missense variant	-	NC_000009.12:g.86946209C>T	gnomAD
rs1352555335	p.Gly191Asp	missense variant	-	NC_000009.12:g.86946208C>T	gnomAD
rs759704477	p.Asn195Lys	missense variant	-	NC_000009.12:g.86946195G>C	ExAC,gnomAD
rs1394363847	p.Arg198Leu	missense variant	-	NC_000009.12:g.86946187C>A	gnomAD
rs387907165	p.Thr200Arg	missense variant	-	NC_000009.12:g.86946181G>C	ExAC,gnomAD
RCV000024280	p.Thr200Arg	missense variant	Holoprosencephaly 1 (HPE1)	NC_000009.12:g.86946181G>C	ClinVar
rs994346671	p.Asp201Val	missense variant	-	NC_000009.12:g.86946178T>A	TOPMed,gnomAD
rs771528019	p.Glu202Lys	missense variant	-	NC_000009.12:g.86946176C>T	ExAC,TOPMed,gnomAD
rs771528019	p.Glu202Gln	missense variant	-	NC_000009.12:g.86946176C>G	ExAC,TOPMed,gnomAD
rs763173224	p.Cys203Ser	missense variant	-	NC_000009.12:g.86946173A>T	ExAC,gnomAD
COSM6183780	p.Cys203Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946172C>A	NCI-TCGA Cosmic
rs773739552	p.Arg204His	missense variant	-	NC_000009.12:g.86946169C>T	ExAC,gnomAD
rs773739552	p.Arg204Leu	missense variant	-	NC_000009.12:g.86946169C>A	ExAC,gnomAD
rs1483685788	p.Val206Ile	missense variant	-	NC_000009.12:g.86946164C>T	TOPMed,gnomAD
COSM2155284	p.Glu208Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946158C>T	NCI-TCGA Cosmic
COSM3908658	p.Glu208Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946157T>C	NCI-TCGA Cosmic
rs1380836972	p.Asp209Gly	missense variant	-	NC_000009.12:g.86946154T>C	gnomAD
rs1440641780	p.Met210Ile	missense variant	-	NC_000009.12:g.86946150C>T	gnomAD
rs768276315	p.Ala212Val	missense variant	-	NC_000009.12:g.86946145G>A	ExAC,TOPMed,gnomAD
rs768276315	p.Ala212Gly	missense variant	-	NC_000009.12:g.86946145G>C	ExAC,TOPMed,gnomAD
rs1202404573	p.Met213Val	missense variant	-	NC_000009.12:g.86946143T>C	TOPMed
rs1487738496	p.Met213Ile	missense variant	-	NC_000009.12:g.86946141C>T	gnomAD
rs1202404573	p.Met213Leu	missense variant	-	NC_000009.12:g.86946143T>G	TOPMed
rs533125798	p.Lys215Asn	missense variant	-	NC_000009.12:g.86946135C>A	1000Genomes,ExAC,gnomAD
rs1265547559	p.Lys215Glu	missense variant	-	NC_000009.12:g.86946137T>C	TOPMed
rs1354960372	p.Ala216Val	missense variant	-	NC_000009.12:g.86946133G>A	gnomAD
rs757093506	p.Ala217Thr	missense variant	-	NC_000009.12:g.86946131C>T	ExAC,gnomAD
rs1342809719	p.Ala217Val	missense variant	-	NC_000009.12:g.86946130G>A	TOPMed,gnomAD
rs201726102	p.Leu218Met	missense variant	-	NC_000009.12:g.86946128G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372617898	p.Asn220Lys	missense variant	-	NC_000009.12:g.86946120G>T	ESP,ExAC,TOPMed,gnomAD
rs372617898	p.Asn220Lys	missense variant	-	NC_000009.12:g.86946120G>C	ESP,ExAC,TOPMed,gnomAD
rs1421147281	p.Asn220Asp	missense variant	-	NC_000009.12:g.86946122T>C	TOPMed
NCI-TCGA novel	p.Asp221Val	missense variant	-	NC_000009.12:g.86946118T>A	NCI-TCGA
rs1420543153	p.Asp221Glu	missense variant	-	NC_000009.12:g.86946117G>C	gnomAD
rs572692316	p.Asp221His	missense variant	-	NC_000009.12:g.86946119C>G	1000Genomes,ExAC,gnomAD
rs572692316	p.Asp221Asn	missense variant	-	NC_000009.12:g.86946119C>T	1000Genomes,ExAC,gnomAD
rs1162453855	p.Val223Gly	missense variant	-	NC_000009.12:g.86946112A>C	gnomAD
rs1412508990	p.Val223Leu	missense variant	-	NC_000009.12:g.86946113C>G	TOPMed
rs1477240562	p.Leu227Phe	missense variant	-	NC_000009.12:g.86946101G>A	TOPMed,gnomAD
rs1218260974	p.Glu228Gln	missense variant	-	NC_000009.12:g.86946098C>G	gnomAD
rs746435777	p.Ile231Met	missense variant	-	NC_000009.12:g.86946087G>C	ExAC,gnomAD
rs1199108492	p.Glu233Gln	missense variant	-	NC_000009.12:g.86946083C>G	gnomAD
rs771856590	p.Glu237Lys	missense variant	-	NC_000009.12:g.86946071C>T	ExAC,gnomAD
rs1484404740	p.Met239Thr	missense variant	-	NC_000009.12:g.86946064A>G	gnomAD
rs1218077694	p.Ala240Thr	missense variant	-	NC_000009.12:g.86946062C>T	gnomAD
rs745783505	p.Arg241Leu	missense variant	-	NC_000009.12:g.86946058C>A	ExAC,gnomAD
rs1322610934	p.Cys243Tyr	missense variant	-	NC_000009.12:g.86946052C>T	gnomAD
COSM3375300	p.Ala246Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946043G>C	NCI-TCGA Cosmic
rs1475516358	p.Gly249Asp	missense variant	-	NC_000009.12:g.86946034C>T	gnomAD
rs749142292	p.Gly249Arg	missense variant	-	NC_000009.12:g.86946035C>G	ExAC,gnomAD
rs141672448	p.Asn250Lys	missense variant	-	NC_000009.12:g.86946030G>C	ESP,ExAC,TOPMed,gnomAD
rs1308257542	p.Gly251Arg	missense variant	-	NC_000009.12:g.86946029C>G	TOPMed
rs1308257542	p.Gly251Ser	missense variant	-	NC_000009.12:g.86946029C>T	TOPMed
rs1453746921	p.Gly253Ser	missense variant	-	NC_000009.12:g.86946023C>T	TOPMed,gnomAD
rs1453746921	p.Gly253Arg	missense variant	-	NC_000009.12:g.86946023C>G	TOPMed,gnomAD
rs936633922	p.Ser255Arg	missense variant	-	NC_000009.12:g.86946015G>T	TOPMed,gnomAD
rs1285964404	p.Gly256Val	missense variant	-	NC_000009.12:g.86946013C>A	TOPMed,gnomAD
rs766456958	p.Ser257Leu	missense variant	-	NC_000009.12:g.86946010G>A	ExAC,gnomAD
rs1219370330	p.Asp258Asn	missense variant	-	NC_000009.12:g.86946008C>T	TOPMed,gnomAD
RCV000024281	p.Gly259Glu	missense variant	Holoprosencephaly 1 (HPE1)	NC_000009.12:g.86946004C>T	ClinVar
rs387907166	p.Gly259Glu	missense variant	-	NC_000009.12:g.86946004C>T	-
rs750958937	p.Gly260Asp	missense variant	-	NC_000009.12:g.86946001C>T	ExAC,gnomAD
rs1042442624	p.Asp262Asn	missense variant	-	NC_000009.12:g.86945996C>T	TOPMed
rs1042442624	p.Asp262Tyr	missense variant	-	NC_000009.12:g.86945996C>A	TOPMed
COSM3908656	p.Asp263Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945992T>C	NCI-TCGA Cosmic
rs1326352147	p.Tyr264Cys	missense variant	-	NC_000009.12:g.86945989T>C	gnomAD
COSM3908655	p.Asp266Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945984C>T	NCI-TCGA Cosmic
rs1398069734	p.Asp266Glu	missense variant	-	NC_000009.12:g.86945982A>C	TOPMed,gnomAD
rs1172157999	p.Glu267Asp	missense variant	-	NC_000009.12:g.86945979C>A	TOPMed,gnomAD
rs762208724	p.Asp271Glu	missense variant	-	NC_000009.12:g.86945967G>C	ExAC,gnomAD
rs1424014661	p.Glu272Lys	missense variant	-	NC_000009.12:g.86945966C>T	gnomAD
rs1478813231	p.Arg274Cys	missense variant	-	NC_000009.12:g.86945960G>A	gnomAD
rs777140389	p.Arg274His	missense variant	-	NC_000009.12:g.86945959C>T	ExAC,gnomAD
rs759114609	p.Gly276Val	missense variant	-	NC_000009.12:g.86945953C>A	ExAC,gnomAD
rs759114609	p.Gly276Glu	missense variant	-	NC_000009.12:g.86945953C>T	ExAC,gnomAD
rs1052051022	p.Gly276Arg	missense variant	-	NC_000009.12:g.86945954C>T	gnomAD
rs774261663	p.Gly277Val	missense variant	-	NC_000009.12:g.86945950C>A	ExAC,TOPMed,gnomAD
rs774261663	p.Gly277Asp	missense variant	-	NC_000009.12:g.86945950C>T	ExAC,TOPMed,gnomAD
rs1276591869	p.Gly277Ser	missense variant	-	NC_000009.12:g.86945951C>T	gnomAD
rs770870737	p.Gly279Val	missense variant	-	NC_000009.12:g.86945944C>A	ExAC,gnomAD
rs1374544560	p.Gly280Asp	missense variant	-	NC_000009.12:g.86945941C>T	gnomAD
rs777659028	p.Glu281Asp	missense variant	-	NC_000009.12:g.86945937C>G	ExAC
rs1229661103	p.Glu281Lys	missense variant	-	NC_000009.12:g.86945939C>T	gnomAD
rs749020654	p.Glu281Gly	missense variant	-	NC_000009.12:g.86945938T>C	ExAC,TOPMed,gnomAD
rs1442298211	p.Pro283Ser	missense variant	-	NC_000009.12:g.86945933G>A	gnomAD
rs999199419	p.Pro283Leu	missense variant	-	NC_000009.12:g.86945932G>A	gnomAD
rs999199419	p.Pro283Gln	missense variant	-	NC_000009.12:g.86945932G>T	gnomAD
rs769522122	p.Leu284Pro	missense variant	-	NC_000009.12:g.86945929A>G	ExAC,gnomAD
rs758487819	p.Asp286Glu	missense variant	-	NC_000009.12:g.86945922G>T	ExAC,TOPMed,gnomAD
rs780204293	p.Asp286Tyr	missense variant	-	NC_000009.12:g.86945924C>A	ExAC,TOPMed,gnomAD
rs780204293	p.Asp286Asn	missense variant	-	NC_000009.12:g.86945924C>T	ExAC,TOPMed,gnomAD
rs1382691912	p.Asp287Glu	missense variant	-	NC_000009.12:g.86945919G>T	TOPMed,gnomAD
rs750542611	p.Asp287Asn	missense variant	-	NC_000009.12:g.86945921C>T	ExAC,gnomAD
rs1472763904	p.Asp288Gly	missense variant	-	NC_000009.12:g.86945917T>C	TOPMed,gnomAD
rs779493377	p.Asp288His	missense variant	-	NC_000009.12:g.86945918C>G	ExAC,TOPMed,gnomAD
COSM3908653	p.Gly289Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945914C>T	NCI-TCGA Cosmic
rs1235761889	p.Gly289Ser	missense variant	-	NC_000009.12:g.86945915C>T	gnomAD
rs1161490251	p.Pro291Ser	missense variant	-	NC_000009.12:g.86945909G>A	gnomAD
rs1472926478	p.Pro294Ser	missense variant	-	NC_000009.12:g.86945900G>A	TOPMed,gnomAD
rs1215610871	p.Arg295Leu	missense variant	-	NC_000009.12:g.86945896C>A	gnomAD
rs1215610871	p.Arg295His	missense variant	-	NC_000009.12:g.86945896C>T	gnomAD
rs1311193365	p.Ser298Gly	missense variant	-	NC_000009.12:g.86945888T>C	gnomAD
rs1378388213	p.Gly299Arg	missense variant	-	NC_000009.12:g.86945885C>G	TOPMed,gnomAD
rs1378388213	p.Gly299Cys	missense variant	-	NC_000009.12:g.86945885C>A	TOPMed,gnomAD
rs1281893748	p.Ala300Gly	missense variant	-	NC_000009.12:g.86945881G>C	TOPMed,gnomAD
rs983792142	p.Ala300Thr	missense variant	-	NC_000009.12:g.86945882C>T	TOPMed
rs752594353	p.Ala301Thr	missense variant	-	NC_000009.12:g.86945879C>T	gnomAD
rs1257362876	p.Ala302Pro	missense variant	-	NC_000009.12:g.86945876C>G	TOPMed,gnomAD
rs1464187677	p.Ser303Ala	missense variant	-	NC_000009.12:g.86945873A>C	gnomAD
rs1297267367	p.Ser303Leu	missense variant	-	NC_000009.12:g.86945872G>A	gnomAD
rs1364740970	p.Gly304Asp	missense variant	-	NC_000009.12:g.86945869C>T	TOPMed
rs1039928712	p.Gly307Arg	missense variant	-	NC_000009.12:g.86945861C>T	TOPMed,gnomAD
rs556261075	p.Pro310Ser	missense variant	-	NC_000009.12:g.86945852G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1475610572	p.Tyr311Cys	missense variant	-	NC_000009.12:g.86945848T>C	gnomAD
rs1262737489	p.Gly312Glu	missense variant	-	NC_000009.12:g.86945845C>T	TOPMed,gnomAD
rs1489402492	p.Pro313Leu	missense variant	-	NC_000009.12:g.86945842G>A	gnomAD
rs981927518	p.Arg315Leu	missense variant	-	NC_000009.12:g.86945836C>A	TOPMed,gnomAD
rs981927518	p.Arg315His	missense variant	-	NC_000009.12:g.86945836C>T	TOPMed,gnomAD
rs764497889	p.Arg316Ser	missense variant	-	NC_000009.12:g.86945832C>A	ExAC,gnomAD
rs1287712502	p.Ser317Asn	missense variant	-	NC_000009.12:g.86945830C>T	gnomAD
rs760987855	p.Ser318Gly	missense variant	-	NC_000009.12:g.86945828T>C	ExAC,TOPMed,gnomAD
rs1442233370	p.Ser318Arg	missense variant	-	NC_000009.12:g.86945826G>C	TOPMed
NCI-TCGA novel	p.Gly319Ser	missense variant	-	NC_000009.12:g.86945825C>T	NCI-TCGA
rs1355462021	p.Gly319Asp	missense variant	-	NC_000009.12:g.86945824C>T	TOPMed,gnomAD
rs1023906043	p.Gly320Ala	missense variant	-	NC_000009.12:g.86945821C>G	TOPMed,gnomAD
rs969219103	p.Gly320Cys	missense variant	-	NC_000009.12:g.86945822C>A	TOPMed,gnomAD
rs1347299119	p.Gly322Arg	missense variant	-	NC_000009.12:g.86945816C>G	TOPMed
rs1336648218	p.Arg323Cys	missense variant	-	NC_000009.12:g.86945813G>A	TOPMed
rs1457765003	p.Pro326Ser	missense variant	-	NC_000009.12:g.86945804G>A	TOPMed,gnomAD
rs1348636199	p.Pro326Leu	missense variant	-	NC_000009.12:g.86945803G>A	gnomAD
rs1010781529	p.Arg327Gly	missense variant	-	NC_000009.12:g.86945801G>C	TOPMed,gnomAD
rs1322731786	p.Ala329Val	missense variant	-	NC_000009.12:g.86945794G>A	gnomAD
rs1168653525	p.Ala334Val	missense variant	-	NC_000009.12:g.86945779G>A	gnomAD
rs752391786	p.Ala334Thr	missense variant	-	NC_000009.12:g.86945780C>T	ExAC,gnomAD
rs1478906898	p.Leu337Phe	missense variant	-	NC_000009.12:g.86945769C>G	gnomAD
rs1304660313	p.Leu338Pro	missense variant	-	NC_000009.12:g.86945767A>G	TOPMed
rs958204986	p.Leu344His	missense variant	-	NC_000009.12:g.86945749A>T	TOPMed,gnomAD
rs958204986	p.Leu344Pro	missense variant	-	NC_000009.12:g.86945749A>G	TOPMed,gnomAD
rs1211642467	p.Phe345Ile	missense variant	-	NC_000009.12:g.86945747A>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007133	Carcinoma, Papillary	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0020635	Hypopituitarism	disease	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027819	Neuroblastoma	group	BEFREE
C0078982	Arhinencephaly	disease	CTD_human
C0079541	Holoprosencephaly	disease	BEFREE;CTD_human
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0339789	Congenital deafness	disease	BEFREE
C0342776	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0431362	Lobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0431363	Alobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0751617	Semilobar Holoprosencephaly	disease	CTD_human;ORPHANET
C1527249	Colorectal Cancer	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3665419	intracranial glioma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007050	cell cycle arrest	IEA
GO:0008589	regulation of smoothened signaling pathway	ISS
GO:0010955	negative regulation of protein processing	IMP
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IEP
GO:0042981	regulation of apoptotic process	ISS
GO:0045165	cell fate commitment	ISS
GO:0045930	negative regulation of mitotic cell cycle	IGI
GO:0045930	negative regulation of mitotic cell cycle	IBA
GO:0045930	negative regulation of mitotic cell cycle	IDA
GO:0048589	developmental growth	ISS
GO:0060628	regulation of ER to Golgi vesicle-mediated transport	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0016021	integral component of membrane	NAS
GO:0046658	anchored component of plasma membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5632681	Ligand-receptor interactions	TAS
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5635838	Activation of SMO	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of GAS1 mRNA	28903501
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 decreased expression of GAS1 mRNA	29432896
C032668	1-nitropyrene	1-nitropyrene results in decreased expression of GAS1 mRNA	19041380
C012796	2-butenal	2-butenal results in decreased expression of GAS1 mRNA	20471460
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of GAS1 mRNA	23994337
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of GAS1 mRNA	18648102
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in decreased expression of GAS1 mRNA	25912373
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 GAS1 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 decreased expression of GAS1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS1 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 GAS1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of GAS1 mRNA	19150397
D000079	Acetaldehyde	Acetaldehyde affects the expression of GAS1 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of GAS1 mRNA	22230336; 26690555; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of GAS1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of GAS1 mRNA	19770486
D001151	Arsenic	Arsenic results in increased methylation of GAS1 gene	24525453
D001152	Arsenicals	Arsenicals results in decreased expression of GAS1 mRNA	28625800
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of GAS1 mRNA	26705709
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of GAS1 mRNA	21183792
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of GAS1 mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of GAS1 mRNA	21179406
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of GAS1 mRNA	23994337
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of GAS1 mRNA	25912373
C006780	bisphenol A	bisphenol A results in decreased expression of GAS1 mRNA	25594700
C006780	bisphenol A	bisphenol A affects the expression of GAS1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in decreased expression of GAS1 mRNA	30951980
D002104	Cadmium	Cadmium results in decreased expression of GAS1 mRNA	21120746
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of GAS1 mRNA	12160620; 26472689;
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of GAS1 mRNA	20061341
C037123	cadmium sulfate	[cadmium sulfate co-treated with cobaltous chloride co-treated with lead chloride] results in decreased expression of GAS1 mRNA	18654764
D002117	Calcitriol	Calcitriol results in decreased expression of GAS1 mRNA	26485663
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of GAS1 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of GAS1 mRNA	27339419
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GAS1 mRNA	23650126
D002922	Ciguatoxins	Ciguatoxins affects the expression of GAS1 mRNA	18353800
D002945	Cisplatin	GAS1 protein affects the susceptibility to Cisplatin	16217747
D002945	Cisplatin	Cisplatin results in decreased expression of GAS1 mRNA	21151649
C018021	cobaltous chloride	[cadmium sulfate co-treated with cobaltous chloride co-treated with lead chloride] results in decreased expression of GAS1 mRNA	18654764
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of GAS1 mRNA	15467011
C057862	cyanoginosin LR	cyanoginosin LR results in decreased expression of GAS1 mRNA	17654400
D003513	Cycloheximide	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of GAS1 mRNA]	11007951
D003676	Deferoxamine	[Deferoxamine results in decreased abundance of Iron] which results in decreased expression of GAS1 mRNA	12393473
D004008	Diclofenac	Diclofenac results in decreased expression of GAS1 mRNA	26934552
D004041	Dietary Fats	Dietary Fats results in increased expression of GAS1 mRNA	21852083
D004041	Dietary Fats	Resveratrol inhibits the reaction [Dietary Fats results in increased expression of GAS1 mRNA]	21852083
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of GAS1 mRNA	24535843
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of GAS1 mRNA	24535843
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of GAS1 mRNA	22467019
D004112	Dimercaprol	Dimercaprol inhibits the reaction [Mustard Gas results in decreased expression of GAS1 mRNA]	16377760
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 GAS1 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 decreased expression of GAS1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS1 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 GAS1 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of GAS1 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 GAS1 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of GAS1 mRNA	14699072
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of GAS1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of GAS1 mRNA	18191855
D004958	Estradiol	Estradiol results in decreased expression of GAS1 mRNA	22467019
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of GAS1 mRNA	17555576
C061365	flusilazole	flusilazole affects the expression of GAS1 mRNA	22634333
D005557	Formaldehyde	Formaldehyde results in decreased expression of GAS1 mRNA	27664576
D005557	Formaldehyde	Formaldehyde results in increased expression of GAS1 mRNA	28937961
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 decreased expression of GAS1 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
C056507	gemcitabine	gemcitabine results in decreased expression of GAS1 mRNA	17039268
D006427	Hemin	[Hemin results in increased abundance of Iron] which results in increased expression of GAS1 mRNA	12393473
C031927	hydroquinone	hydroquinone results in decreased expression of GAS1 mRNA	31256213
D007501	Iron	[Deferoxamine results in decreased abundance of Iron] which results in decreased expression of GAS1 mRNA	12393473
D007501	Iron	[Hemin results in increased abundance of Iron] which results in increased expression of GAS1 mRNA	12393473
C098607	JP8 aviation fuel	JP8 aviation fuel results in increased expression of GAS1 mRNA	12832151
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GAS1 mRNA	25961927
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of GAS1 mRNA	15784690
C029891	lead chloride	[cadmium sulfate co-treated with cobaltous chloride co-treated with lead chloride] results in decreased expression of GAS1 mRNA	18654764
D008558	Melphalan	Melphalan results in decreased expression of GAS1 mRNA	22363485
C042720	mercuric bromide	mercuric bromide results in decreased expression of GAS1 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 decreased expression of GAS1 mRNA	27188386
C008493	methylselenic acid	methylselenic acid results in increased expression of GAS1 mRNA	18548127
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of GAS1 mRNA	19162170
D009151	Mustard Gas	Dimercaprol inhibits the reaction [Mustard Gas results in decreased expression of GAS1 mRNA]	16377760
D009151	Mustard Gas	Mustard Gas results in decreased expression of GAS1 mRNA	16377760
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of GAS1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of GAS1 mRNA	25620056
C022838	nickel chloride	nickel chloride results in decreased expression of GAS1 mRNA	12839937
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of GAS1 mRNA	30529165
C016030	pantogab	pantogab results in decreased expression of GAS1 mRNA	17379144
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 decreased expression of GAS1 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of GAS1 mRNA	26272509
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of GAS1 mRNA	24535843
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of GAS1 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of GAS1 mRNA	19270015; 19482888;
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 GAS1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of GAS1 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of GAS1 mRNA	23811191
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 decreased expression of GAS1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of GAS1 mRNA	29432896
D011374	Progesterone	Progesterone results in increased expression of GAS1 mRNA	21540246
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of GAS1 mRNA	24780913
D000077185	Resveratrol	Resveratrol inhibits the reaction [Dietary Fats results in increased expression of GAS1 mRNA]	21852083
D012402	Rotenone	Rotenone results in increased expression of GAS1 mRNA	29955902
C410733	scriptaid	scriptaid affects the expression of GAS1 mRNA	18813790
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of GAS1 mRNA	22300531; 25351596;
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of GAS1 mRNA	23221170
D012834	Silver	Silver results in decreased expression of GAS1 mRNA	26551752
D012906	Smoke	Smoke results in decreased expression of GAS1 mRNA	21095227
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of GAS1 mRNA	21340527
D053260	Soot	Soot results in increased expression of GAS1 mRNA	26551751
D013629	Tamoxifen	Tamoxifen affects the expression of GAS1 mRNA	14699072
D013629	Tamoxifen	Tamoxifen affects the expression of GAS1 mRNA	17555576
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of GAS1 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of GAS1 mRNA]	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GAS1 mRNA	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GAS1 mRNA	26377647
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GAS1 mRNA	15800033; 16611356; 23994337; 26290441;
D019284	Thapsigargin	Thapsigargin results in increased expression of GAS1 mRNA	29453283
D019284	Thapsigargin	Thapsigargin results in decreased expression of GAS1 protein	24648495
C009495	titanium dioxide	titanium dioxide results in decreased expression of GAS1 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of GAS1 mRNA	28065790; 30291989;
D014212	Tretinoin	Tretinoin results in decreased expression of GAS1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of GAS1 mRNA	16604517
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of GAS1 mRNA	28973375
D014260	Triclosan	Triclosan results in increased expression of GAS1 mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of GAS1 mRNA	19042947
D000077288	Troglitazone	Troglitazone results in decreased expression of GAS1 mRNA	28973697
D014520	Urethane	Urethane results in decreased expression of GAS1 mRNA	16289808
D014635	Valproic Acid	Valproic Acid results in decreased expression of GAS1 mRNA	23179753; 25192806; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of GAS1 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased methylation of GAS1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of GAS1 mRNA	17292431
C066075	vanadium pentoxide	vanadium pentoxide results in decreased expression of GAS1 mRNA	17459161
D015215	Zidovudine	[Zidovudine co-treated with IFNA1 protein] results in decreased expression of GAS1 mRNA	20370541
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of GAS1 mRNA	15784690

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0131	Cell cycle
KW-1003	Cell membrane
KW-0325	Glycoprotein
KW-0336	GPI-anchor
KW-0338	Growth arrest
KW-0449	Lipoprotein
KW-0472	Membrane
KW-1185	Reference proteome
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR039596	GAS1
IPR016017	GDNF/GAS1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF02351	GDNF

Gene: GAS1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction