CleftGeneDB-Search

Gene: ZIC3

Basic information

Tag	Content
Uniprot ID	O60481; B2CNW4; Q14DE5; Q5JY75;
Entrez ID	7547
Genbank protein ID	AAC05594.1; AAI13396.1; ACB30403.1; AAI13394.1;
Genbank nucleotide ID	NM_001330661.1; NM_003413.3;
Ensembl protein ID	ENSP00000287538; ENSP00000359638;
Ensembl nucleotide ID	ENSG00000156925
Gene name	Zinc finger protein ZIC 3
Gene symbol	ZIC3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.
Sequence	MTMLLDGGPQ FPGLGVGSFG APRHHEMPNR EPAGMGLNPF GDSTHAAAAA AAAAAFKLSP 60 AAAHDLSSGQ SSAFTPQGSG YANALGHHHH HHHHHHHTSQ VPSYGGAASA AFNSTREFLF 120 RQRSSGLSEA ASGGGQHGLF AGSASSLHAP AGIPEPPSYL LFPGLHEQGA GHPSPTGHVD 180 NNQVHLGLRG ELFGRADPYR PVASPRTDPY AAGAQFPNYS PMNMNMGVNV AAHHGPGAFF 240 RYMRQPIKQE LSCKWIDEAQ LSRPKKSCDR TFSTMHELVT HVTMEHVGGP EQNNHVCYWE 300 ECPREGKSFK AKYKLVNHIR VHTGEKPFPC PFPGCGKIFA RSENLKIHKR THTGEKPFKC 360 EFEGCDRRFA NSSDRKKHMH VHTSDKPYIC KVCDKSYTHP SSLRKHMKVH ESQGSDSSPA 420 ASSGYESSTP PAIASANSKD TTKTPSAVQT STSHNPGLPP NFNEWYV 467

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2EJ4
2RPC
2EJ4

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ZIC3	541035	E1BJR9		Bos taurus	Prediction	More>>
1:1 ortholog	ZIC3	492171	E2R969		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ZIC3	102177783	A0A452FJL7		Capra hircus	Prediction	More>>
1:1 ortholog	ZIC3	7547	O60481		Homo sapiens	Prediction	More>>
1:1 ortholog	Zic3	22773	Q62521	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ZIC3	740302	A0A2I3RP19		Pan troglodytes	Prediction	More>>
1:1 ortholog	ZIC3	100156863	F1RQ88		Sus scrofa	Prediction	More>>
1:1 ortholog	ZIC3	100347605	G1TFC7		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Zic3	367944	A0A096MIX7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	zic3	368263	Q6PV84		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM6117582	p.Met3Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566699T>A	NCI-TCGA Cosmic
rs776181924	p.Leu5Pro	missense variant	-	NC_000023.11:g.137566705T>C	ExAC,gnomAD
rs763534805	p.Gly7Arg	missense variant	-	NC_000023.11:g.137566710G>C	ExAC,TOPMed,gnomAD
rs763534805	p.Gly7Arg	missense variant	-	NC_000023.11:g.137566710G>A	ExAC,TOPMed,gnomAD
RCV000479375	p.Gly7Arg	missense variant	-	NC_000023.11:g.137566710G>C	ClinVar
rs764613910	p.Pro9Arg	missense variant	-	NC_000023.11:g.137566717C>G	ExAC,TOPMed,gnomAD
rs771361451	p.Gln10Leu	missense variant	-	NC_000023.11:g.137566720A>T	TOPMed,gnomAD
rs1327091342	p.Phe11Leu	missense variant	-	NC_000023.11:g.137566722T>C	gnomAD
rs774855618	p.Pro12His	missense variant	-	NC_000023.11:g.137566726C>A	ExAC
rs774855618	p.Pro12Arg	missense variant	-	NC_000023.11:g.137566726C>G	ExAC
rs1282949452	p.Gly13Arg	missense variant	-	NC_000023.11:g.137566728G>A	gnomAD
rs1282949452	p.Gly13Trp	missense variant	-	NC_000023.11:g.137566728G>T	gnomAD
rs762020217	p.Gly15Ala	missense variant	-	NC_000023.11:g.137566735G>C	ExAC,gnomAD
rs147232392	p.Gly17Ser	missense variant	-	NC_000023.11:g.137566740G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147232392	p.Gly17Cys	missense variant	-	NC_000023.11:g.137566740G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147232392	p.Gly17Cys	missense variant	-	NC_000023.11:g.137566740G>T	UniProt,dbSNP
VAR_071330	p.Gly17Cys	missense variant	-	NC_000023.11:g.137566740G>T	UniProt
RCV000201846	p.Gly17Cys	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137566740G>T	ClinVar
rs1401456178	p.Phe19Leu	missense variant	-	NC_000023.11:g.137566746T>C	TOPMed
rs1487142561	p.Phe19Leu	missense variant	-	NC_000023.11:g.137566748C>G	TOPMed,gnomAD
rs865923026	p.Gly20Cys	missense variant	-	NC_000023.11:g.137566749G>T	TOPMed,gnomAD
rs865923026	p.Gly20Arg	missense variant	-	NC_000023.11:g.137566749G>C	TOPMed,gnomAD
COSM1465913	p.Gly20Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566750G>C	NCI-TCGA Cosmic
rs1429776680	p.Ala21Glu	missense variant	-	NC_000023.11:g.137566753C>A	gnomAD
rs1261924503	p.Ala21Thr	missense variant	-	NC_000023.11:g.137566752G>A	gnomAD
NCI-TCGA novel	p.Ala21Val	missense variant	-	chrX:g.137566753C>T	NCI-TCGA
rs1184725289	p.Arg23His	missense variant	-	NC_000023.11:g.137566759G>A	gnomAD
NCI-TCGA novel	p.Arg23His	missense variant	-	chrX:g.137566759G>A	NCI-TCGA
rs1184725289	p.Arg23Leu	missense variant	-	NC_000023.11:g.137566759G>T	gnomAD
rs1448705838	p.His24Asn	missense variant	-	NC_000023.11:g.137566761C>A	TOPMed,gnomAD
rs61735157	p.His25Gln	missense variant	-	NC_000023.11:g.137566766C>G	ExAC,TOPMed,gnomAD
rs1384553961	p.His25Tyr	missense variant	-	NC_000023.11:g.137566764C>T	gnomAD
RCV000624165	p.His25Gln	missense variant	Inborn genetic diseases	NC_000023.11:g.137566766C>G	ClinVar
rs1165286755	p.Glu26Gln	missense variant	-	NC_000023.11:g.137566767G>C	gnomAD
COSM6185442	p.Met27Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566772G>T	NCI-TCGA Cosmic
rs756255074	p.Pro28Ser	missense variant	-	NC_000023.11:g.137566773C>T	ExAC,TOPMed,gnomAD
rs756255074	p.Pro28Thr	missense variant	-	NC_000023.11:g.137566773C>A	ExAC,TOPMed,gnomAD
COSM755200	p.Asn29Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566778C>A	NCI-TCGA Cosmic
rs1243589223	p.Arg30Cys	missense variant	-	NC_000023.11:g.137566779C>T	TOPMed
rs766420888	p.Arg30His	missense variant	-	NC_000023.11:g.137566780G>A	ExAC,gnomAD
COSM1233483	p.Arg30Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566779C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg30Ser	missense variant	-	chrX:g.137566779C>A	NCI-TCGA
rs766420888	p.Arg30Leu	missense variant	-	NC_000023.11:g.137566780G>T	ExAC,gnomAD
rs766420888	p.Arg30Pro	missense variant	-	NC_000023.11:g.137566780G>C	ExAC,gnomAD
rs758325909	p.Glu31Asp	missense variant	-	NC_000023.11:g.137566784G>C	ExAC,TOPMed,gnomAD
rs752686913	p.Glu31Val	missense variant	-	NC_000023.11:g.137566783A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro32Leu	missense variant	-	chrX:g.137566786C>T	NCI-TCGA
rs746833203	p.Ala33Ser	missense variant	-	NC_000023.11:g.137566788G>T	ExAC,TOPMed,gnomAD
RCV000640719	p.Ala33Val	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566789C>T	ClinVar
rs201398331	p.Ala33Val	missense variant	-	NC_000023.11:g.137566789C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1205087893	p.Gly34Asp	missense variant	-	NC_000023.11:g.137566792G>A	TOPMed
rs780929975	p.Met35Val	missense variant	-	NC_000023.11:g.137566794A>G	ExAC,gnomAD
rs1302645424	p.Pro39Leu	missense variant	-	NC_000023.11:g.137566807C>T	TOPMed
NCI-TCGA novel	p.Gly41Arg	missense variant	-	chrX:g.137566812G>A	NCI-TCGA
RCV000754889	p.Ser43Ter	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566819C>A	ClinVar
rs78870836	p.Thr44Ser	missense variant	-	NC_000023.11:g.137566822C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000274738	p.Thr44Ser	missense variant	Congenital heart defects 1, nonsyndromic, 1	NC_000023.11:g.137566822C>G	ClinVar
RCV000355474	p.Thr44Ser	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566822C>G	ClinVar
RCV000329757	p.Thr44Ser	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137566822C>G	ClinVar
rs1198275782	p.Ala46Gly	missense variant	-	NC_000023.11:g.137566828C>G	gnomAD
VAR_066626	p.Ala46insAlaAlaAla	repeated_sequence	VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]	-	UniProt
rs1241955958	p.Ala48Thr	missense variant	-	NC_000023.11:g.137566833G>A	gnomAD
rs1461768011	p.Ala48Val	missense variant	-	NC_000023.11:g.137566834C>T	gnomAD
rs1185336428	p.Ala49Thr	missense variant	-	NC_000023.11:g.137566836G>A	gnomAD
rs749880079	p.Ala50Pro	missense variant	-	NC_000023.11:g.137566839G>C	ExAC
VAR_071331	p.Ala53insAlaAla	duplication	-	-	UniProt
rs1364623611	p.Ala55Thr	missense variant	-	NC_000023.11:g.137566854G>A	gnomAD
rs1334871954	p.Ser59Asn	missense variant	-	NC_000023.11:g.137566867G>A	gnomAD
rs1405421535	p.Ala61Gly	missense variant	-	NC_000023.11:g.137566873C>G	TOPMed,gnomAD
COSM3843718	p.Ala62Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566876C>T	NCI-TCGA Cosmic
rs1210045566	p.His64Gln	missense variant	-	NC_000023.11:g.137566883C>G	TOPMed
rs1339272626	p.Gly69Ser	missense variant	-	NC_000023.11:g.137566896G>A	gnomAD
rs1310887538	p.Ser71Asn	missense variant	-	NC_000023.11:g.137566903G>A	TOPMed
rs772291510	p.Thr75Met	missense variant	-	NC_000023.11:g.137566915C>T	ExAC,gnomAD
rs772291510	p.Thr75Lys	missense variant	-	NC_000023.11:g.137566915C>A	ExAC,gnomAD
rs1308128585	p.Pro76Leu	missense variant	-	NC_000023.11:g.137566918C>T	TOPMed,gnomAD
rs1262033934	p.Gly80Val	missense variant	-	NC_000023.11:g.137566930G>T	gnomAD
rs960337313	p.Ala84Gly	missense variant	-	NC_000023.11:g.137566942C>G	TOPMed
NCI-TCGA novel	p.Gly86Asp	missense variant	-	chrX:g.137566948G>A	NCI-TCGA
rs1177620943	p.His90Tyr	missense variant	-	NC_000023.11:g.137566959C>T	gnomAD
rs1302283100	p.His94Arg	missense variant	-	NC_000023.11:g.137566972A>G	TOPMed
rs1464489288	p.His95Tyr	missense variant	-	NC_000023.11:g.137566974C>T	TOPMed
rs1174562828	p.Thr98Ser	missense variant	-	NC_000023.11:g.137566983A>T	gnomAD
rs1428775459	p.Val101Glu	missense variant	-	NC_000023.11:g.137566993T>A	gnomAD
rs766511169	p.Pro102Leu	missense variant	-	NC_000023.11:g.137566996C>T	ExAC,TOPMed,gnomAD
rs753919160	p.Ser103Asn	missense variant	-	NC_000023.11:g.137566999G>A	ExAC,gnomAD
rs759553920	p.Ala107Thr	missense variant	-	NC_000023.11:g.137567010G>A	ExAC,gnomAD
rs373628598	p.Ser109Cys	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567017C>G	UniProt,dbSNP
VAR_071332	p.Ser109Cys	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567017C>G	UniProt
rs373628598	p.Ser109Cys	missense variant	-	NC_000023.11:g.137567017C>G	ESP,ExAC,TOPMed,gnomAD
rs1375970138	p.Ala110Thr	missense variant	-	NC_000023.11:g.137567019G>A	gnomAD
rs1282251919	p.Arg116His	missense variant	-	NC_000023.11:g.137567038G>A	gnomAD
rs1345706118	p.Phe120Leu	missense variant	-	NC_000023.11:g.137567051C>A	gnomAD
NCI-TCGA novel	p.Phe120Leu	missense variant	-	chrX:g.137567051C>A	NCI-TCGA
rs1224843378	p.Arg121His	missense variant	-	NC_000023.11:g.137567053G>A	gnomAD
rs751413121	p.Arg123His	missense variant	-	NC_000023.11:g.137567059G>A	ExAC,gnomAD
rs1388056683	p.Ser124Thr	missense variant	-	NC_000023.11:g.137567062G>C	TOPMed
COSM6185440	p.Ser124Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567062G>T	NCI-TCGA Cosmic
rs1444804206	p.Gly126Val	missense variant	-	NC_000023.11:g.137567068G>T	TOPMed
rs1252941005	p.Ala130Val	missense variant	-	NC_000023.11:g.137567080C>T	gnomAD
rs757117094	p.Gly133Ser	missense variant	-	NC_000023.11:g.137567088G>A	ExAC,gnomAD
rs1198371172	p.Gly135Trp	missense variant	-	NC_000023.11:g.137567094G>T	gnomAD
rs1268469878	p.Gly135Glu	missense variant	-	NC_000023.11:g.137567095G>A	gnomAD
rs1201730367	p.Gly138Arg	missense variant	-	NC_000023.11:g.137567103G>C	gnomAD
COSM4106975	p.Gly138Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567103G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala141Val	missense variant	-	chrX:g.137567113C>T	NCI-TCGA
rs1235146029	p.Gly142Arg	missense variant	-	NC_000023.11:g.137567115G>C	TOPMed
rs943629082	p.Ala144Val	missense variant	-	NC_000023.11:g.137567122C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu147Gln	missense variant	-	chrX:g.137567131T>A	NCI-TCGA
rs1365863941	p.His148Asn	missense variant	-	NC_000023.11:g.137567133C>A	gnomAD
NCI-TCGA novel	p.His148Asn	missense variant	-	chrX:g.137567133C>A	NCI-TCGA
rs769498242	p.Ala149Thr	missense variant	-	NC_000023.11:g.137567136G>A	1000Genomes,ExAC,gnomAD
rs1248464762	p.Gly152Ser	missense variant	-	NC_000023.11:g.137567145G>A	TOPMed
rs1267957400	p.Ile153Val	missense variant	-	NC_000023.11:g.137567148A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu155SerPheSerTerUnkUnk	frameshift	-	chrX:g.137567150C>-	NCI-TCGA
NCI-TCGA novel	p.Pro156His	missense variant	-	chrX:g.137567158C>A	NCI-TCGA
rs867186935	p.Pro157Thr	missense variant	-	NC_000023.11:g.137567160C>A	gnomAD
NCI-TCGA novel	p.Pro157Leu	missense variant	-	chrX:g.137567161C>T	NCI-TCGA
rs1249609225	p.Ser158Asn	missense variant	-	NC_000023.11:g.137567164G>A	gnomAD
rs779510281	p.Ser158Gly	missense variant	-	NC_000023.11:g.137567163A>G	ExAC,gnomAD
RCV000540603	p.Tyr159Ter	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567167_137567170del	ClinVar
rs1221526194	p.Phe162Val	missense variant	-	NC_000023.11:g.137567175T>G	gnomAD
rs1292187579	p.Pro163Ser	missense variant	-	NC_000023.11:g.137567178C>T	TOPMed,gnomAD
rs1292187579	p.Pro163Thr	missense variant	-	NC_000023.11:g.137567178C>A	TOPMed,gnomAD
COSM6185438	p.Pro163His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567179C>A	NCI-TCGA Cosmic
rs1490593064	p.Gly164Arg	missense variant	-	NC_000023.11:g.137567181G>A	gnomAD
rs748579579	p.Gly164Glu	missense variant	-	NC_000023.11:g.137567182G>A	ExAC
rs748579579	p.Gly164Glu	missense variant	-	chrX:g.137567182G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM6185436	p.Ala170Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567199G>C	NCI-TCGA Cosmic
COSM4999041	p.Ser174Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567212C>T	NCI-TCGA Cosmic
rs1443302015	p.Pro175Arg	missense variant	-	NC_000023.11:g.137567215C>G	gnomAD
rs763037926	p.Pro175Ala	missense variant	-	NC_000023.11:g.137567214C>G	1000Genomes,ExAC,gnomAD
rs771154908	p.Thr176Ala	missense variant	-	NC_000023.11:g.137567217A>G	ExAC,gnomAD
rs1386246838	p.Gly177Val	missense variant	-	NC_000023.11:g.137567221G>T	TOPMed,gnomAD
rs1386246838	p.Gly177Glu	missense variant	-	NC_000023.11:g.137567221G>A	TOPMed,gnomAD
rs776785233	p.His178Gln	missense variant	-	NC_000023.11:g.137567225C>G	ExAC,TOPMed,gnomAD
rs776785233	p.His178Gln	missense variant	-	NC_000023.11:g.137567225C>A	ExAC,TOPMed,gnomAD
rs1198015588	p.Val179Met	missense variant	-	NC_000023.11:g.137567226G>A	gnomAD
RCV000691248	p.Val179Ter	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567226dup	ClinVar
COSM6185432	p.His185Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567246C>A	NCI-TCGA Cosmic
COSM6185434	p.His185Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567244C>A	NCI-TCGA Cosmic
rs765201397	p.Leu186Pro	missense variant	-	NC_000023.11:g.137567248T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly187Trp	missense variant	-	chrX:g.137567250G>T	NCI-TCGA
rs1290090550	p.Arg189His	missense variant	-	NC_000023.11:g.137567257G>A	gnomAD
COSM4106977	p.Gly190Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567260G>T	NCI-TCGA Cosmic
rs1420393507	p.Gly194Arg	missense variant	-	NC_000023.11:g.137567271G>C	TOPMed
COSM6052661	p.Gly194Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567271G>T	NCI-TCGA Cosmic
rs1245144713	p.Arg195His	missense variant	-	NC_000023.11:g.137567275G>A	gnomAD
rs1245144713	p.Arg195Pro	missense variant	-	NC_000023.11:g.137567275G>C	gnomAD
rs761644167	p.Arg195Cys	missense variant	-	NC_000023.11:g.137567274C>T	ExAC,TOPMed
rs761644167	p.Arg195Gly	missense variant	-	NC_000023.11:g.137567274C>G	ExAC,TOPMed
COSM3372088	p.Arg195Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567274C>T	NCI-TCGA Cosmic
rs1315537867	p.Ala196Val	missense variant	-	NC_000023.11:g.137567278C>T	TOPMed,gnomAD
rs961312742	p.Pro198Arg	missense variant	-	NC_000023.11:g.137567284C>G	gnomAD
rs961312742	p.Pro198Leu	missense variant	-	NC_000023.11:g.137567284C>T	gnomAD
RCV000754890	p.Pro198Ter	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567284_137567300del	ClinVar
rs767415936	p.Arg200Ser	missense variant	-	NC_000023.11:g.137567289C>A	ExAC,gnomAD
COSM1115856	p.Arg200His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567290G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val202Met	missense variant	-	chrX:g.137567295G>A	NCI-TCGA
rs140823819	p.Ala203Thr	missense variant	-	NC_000023.11:g.137567298G>A	ESP,ExAC,TOPMed,gnomAD
COSM3558362	p.Ser204Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567302G>A	NCI-TCGA Cosmic
rs755920134	p.Pro205Arg	missense variant	-	NC_000023.11:g.137567305C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg206Cys	missense variant	-	chrX:g.137567307C>T	NCI-TCGA
COSM1465914	p.Thr207Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567311C>T	NCI-TCGA Cosmic
COSM307292	p.Asp208Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567314A>G	NCI-TCGA Cosmic
rs920553380	p.Pro209Ser	missense variant	-	NC_000023.11:g.137567316C>T	TOPMed
NCI-TCGA novel	p.Tyr210Ter	stop gained	-	chrX:g.137567321C>G	NCI-TCGA
rs1249944559	p.Ala211Gly	missense variant	-	NC_000023.11:g.137567323C>G	gnomAD
COSM1465915	p.Gly213Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567329G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly213Ser	missense variant	-	chrX:g.137567328G>A	NCI-TCGA
rs754581917	p.Ala214Val	missense variant	-	NC_000023.11:g.137567332C>T	ExAC,gnomAD
COSM267797	p.Ala214Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567331G>A	NCI-TCGA Cosmic
COSM462309	p.Gln215Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.137567334C>T	NCI-TCGA Cosmic
rs104894963	p.Pro217Ala	missense variant	-	NC_000023.11:g.137567340C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs104894963	p.Pro217Ala	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567340C>G	UniProt,dbSNP
VAR_025632	p.Pro217Ala	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567340C>G	UniProt
RCV000275713	p.Pro217Ala	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567340C>G	ClinVar
RCV000370424	p.Pro217Ala	missense variant	Congenital heart defects 1, nonsyndromic, 1	NC_000023.11:g.137567340C>G	ClinVar
RCV000326072	p.Pro217Ala	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137567340C>G	ClinVar
COSM6117580	p.Pro217Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567341C>G	NCI-TCGA Cosmic
RCV000514533	p.Pro217Ala	missense variant	-	NC_000023.11:g.137567340C>G	ClinVar
rs1473996300	p.Asn218Lys	missense variant	-	NC_000023.11:g.137567345C>G	gnomAD
rs1289003512	p.Ser220Gly	missense variant	-	NC_000023.11:g.137567349A>G	TOPMed
COSM1115857	p.Ser220Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567350G>T	NCI-TCGA Cosmic
rs758831851	p.Pro221Ala	missense variant	-	NC_000023.11:g.137567352C>G	ExAC,TOPMed,gnomAD
rs1034877221	p.Asn223Ser	missense variant	-	NC_000023.11:g.137567359A>G	TOPMed,gnomAD
rs939481931	p.Asn223Asp	missense variant	-	NC_000023.11:g.137567358A>G	TOPMed,gnomAD
rs778283887	p.Met226Leu	missense variant	-	NC_000023.11:g.137567367A>C	ExAC,TOPMed,gnomAD
rs1454975122	p.Val228Ala	missense variant	-	NC_000023.11:g.137567374T>C	TOPMed
rs373327450	p.Val228Met	missense variant	-	NC_000023.11:g.137567373G>A	ESP,ExAC,TOPMed
rs771246553	p.Asn229Ser	missense variant	-	NC_000023.11:g.137567377A>G	ExAC,gnomAD
rs771246553	p.Asn229Thr	missense variant	-	NC_000023.11:g.137567377A>C	ExAC,gnomAD
rs746070565	p.Ala231Gly	missense variant	-	NC_000023.11:g.137567383C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala232Thr	missense variant	-	chrX:g.137567385G>A	NCI-TCGA
rs1439788687	p.His234Asn	missense variant	-	NC_000023.11:g.137567391C>A	TOPMed,gnomAD
rs1439788687	p.His234Asp	missense variant	-	NC_000023.11:g.137567391C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala238Thr	missense variant	-	chrX:g.137567403G>A	NCI-TCGA
rs1224538076	p.Phe240Leu	missense variant	-	NC_000023.11:g.137567409T>C	gnomAD
NCI-TCGA novel	p.Phe240Cys	missense variant	-	chrX:g.137567410T>G	NCI-TCGA
COSM1115858	p.Arg244Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567421C>T	NCI-TCGA Cosmic
rs377356678	p.Ile247Val	missense variant	-	NC_000023.11:g.137567430A>G	ESP,ExAC,TOPMed,gnomAD
COSM3424511	p.Ile247Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567430A>T	NCI-TCGA Cosmic
rs104894960	p.Gln249Ter	stop gained	-	NC_000023.11:g.137567436C>T	-
RCV000012189	p.Gln249Ter	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567436C>T	ClinVar
RCV000754887	p.Ser252Ter	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567446C>A	ClinVar
rs1203069392	p.Ser252Leu	missense variant	-	NC_000023.11:g.137567446C>T	gnomAD
COSM1115859	p.Ser252Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567446C>T	NCI-TCGA Cosmic
RCV000754888	p.Cys253Ser	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567448T>A	ClinVar
RCV000012190	p.Cys253Ser	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567449G>C	ClinVar
rs122463167	p.Cys253Ser	missense variant	-	NC_000023.11:g.137567448T>A	-
rs104894961	p.Cys253Ser	missense variant	-	NC_000023.11:g.137567449G>C	-
rs104894961	p.Cys253Ser	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137567449G>C	UniProt,dbSNP
VAR_025633	p.Cys253Ser	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137567449G>C	UniProt
rs122463168	p.Trp255Gly	missense variant	-	NC_000023.11:g.137567454T>G	-
rs886041111	p.Trp255Ser	missense variant	-	NC_000023.11:g.137567455G>C	-
NCI-TCGA novel	p.Trp255Cys	missense variant	-	chrX:g.137567456G>C	NCI-TCGA
RCV000012194	p.Trp255Gly	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567454T>G	ClinVar
RCV000258959	p.Trp255Ser	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567455G>C	ClinVar
rs1201620129	p.Ile256Met	missense variant	-	NC_000023.11:g.137567459C>G	TOPMed
COSM6185430	p.Asp257Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567461A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp257Asn	missense variant	-	chrX:g.137567460G>A	NCI-TCGA
rs1301255366	p.Glu258Gly	missense variant	-	NC_000023.11:g.137567464A>G	gnomAD
rs945584167	p.Ala259Val	missense variant	-	NC_000023.11:g.137567467C>T	gnomAD
NCI-TCGA novel	p.Ser262Arg	missense variant	-	chrX:g.137567477C>G	NCI-TCGA
RCV000012187	p.Cys268Ter	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567495C>A	ClinVar
rs122462166	p.Cys268Ter	stop gained	-	NC_000023.11:g.137567495C>A	-
rs1267061583	p.Arg270Gln	missense variant	-	NC_000023.11:g.137567500G>A	TOPMed
rs1466369334	p.Met275Leu	missense variant	-	NC_000023.11:g.137567514A>T	TOPMed
rs1269001464	p.Glu277Lys	missense variant	-	NC_000023.11:g.137567520G>A	TOPMed
rs1327134361	p.Val279Glu	missense variant	-	NC_000023.11:g.137567527T>A	TOPMed
rs1235557142	p.Val282Ile	missense variant	-	NC_000023.11:g.137567535G>A	gnomAD
NCI-TCGA novel	p.Glu285Asp	missense variant	-	chrX:g.137567546G>T	NCI-TCGA
VAR_025634	p.His286Arg	Missense	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]	-	UniProt
rs151121012	p.Gly289Ser	missense variant	-	NC_000023.11:g.137567556G>A	ESP,ExAC,gnomAD
rs752160420	p.Pro290Leu	missense variant	-	NC_000023.11:g.137567560C>T	ExAC,gnomAD
rs752160420	p.Pro290Leu	missense variant	-	chrX:g.137567560C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1444020526	p.Gln292His	missense variant	-	NC_000023.11:g.137567567G>C	TOPMed,gnomAD
rs1298851009	p.Asn294Lys	missense variant	-	NC_000023.11:g.137567573C>G	TOPMed
rs747483692	p.Asn294Thr	missense variant	-	NC_000023.11:g.137567572A>C	ExAC,gnomAD
RCV000690871	p.Asn294Lys	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567573C>G	ClinVar
rs1290475146	p.Asn294His	missense variant	-	NC_000023.11:g.137567571A>C	gnomAD
rs747483692	p.Asn294Ser	missense variant	-	NC_000023.11:g.137567572A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val296Ile	missense variant	-	chrX:g.137567577G>A	NCI-TCGA
NCI-TCGA novel	p.Cys297Arg	missense variant	-	chrX:g.137567580T>C	NCI-TCGA
rs1383568560	p.Tyr298Cys	missense variant	-	NC_000023.11:g.137567584A>G	TOPMed
COSM6185426	p.Trp299Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567588G>T	NCI-TCGA Cosmic
COSM4106981	p.Glu300Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567591G>T	NCI-TCGA Cosmic
COSM1465918	p.Arg304Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567601C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg304GlyPheSerTerUnkUnkUnk	frameshift	-	chrX:g.137567597C>-	NCI-TCGA
rs1486107291	p.Ser308Ala	missense variant	-	NC_000023.11:g.137567613T>G	gnomAD
COSM4850646	p.Phe309Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567618C>G	NCI-TCGA Cosmic
COSM4892626	p.Ala311Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567622G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys312Asn	missense variant	-	chrX:g.137567627G>T	NCI-TCGA
COSM3558364	p.Val316Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567637G>T	NCI-TCGA Cosmic
VAR_071333	p.His318Asn	Missense	VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]	-	UniProt
rs769915486	p.Ile319Thr	missense variant	-	NC_000023.11:g.137567647T>C	ExAC,gnomAD
COSM422214	p.His322Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567657C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His322Arg	missense variant	-	chrX:g.137567656A>G	NCI-TCGA
RCV000012186	p.Thr323Met	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567659C>T	ClinVar
rs122462165	p.Thr323Met	missense variant	-	NC_000023.11:g.137567659C>T	-
rs122462165	p.Thr323Met	missense variant	-	chrX:g.137567659C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys326Thr	missense variant	-	chrX:g.137567668A>C	NCI-TCGA
NCI-TCGA novel	p.Pro329HisPheSerTerUnkUnk	frameshift	-	chrX:g.137567675C>-	NCI-TCGA
COSM1465919	p.Pro333Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567688C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro333ArgPheSerTerUnkUnk	frameshift	-	chrX:g.137567687C>-	NCI-TCGA
rs1378858604	p.Gly334Cys	missense variant	-	NC_000023.11:g.137567691G>T	gnomAD
rs1474420006	p.Gly336Arg	missense variant	-	NC_000023.11:g.137567697G>A	gnomAD
COSM4106985	p.Gly336Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567697G>A	NCI-TCGA Cosmic
COSM73375	p.Ala340Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567710C>G	NCI-TCGA Cosmic
COSM1115865	p.Arg341His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567713G>A	NCI-TCGA Cosmic
RCV000371226	p.Ser342Ter	frameshift	-	NC_000023.11:g.137567716del	ClinVar
rs764818979	p.Ile347Val	missense variant	-	NC_000023.11:g.137567730A>G	ExAC,gnomAD
COSM755194	p.His348Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567734A>G	NCI-TCGA Cosmic
rs1301039896	p.Lys349Arg	missense variant	-	NC_000023.11:g.137567737A>G	gnomAD
COSM4893331	p.Lys349Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567737A>G	NCI-TCGA Cosmic
RCV000687841	p.Arg350Ser	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567741G>C	ClinVar
NCI-TCGA novel	p.Thr351Ile	missense variant	-	chrX:g.137567743C>T	NCI-TCGA
NCI-TCGA novel	p.Gly354Cys	missense variant	-	chrX:g.137567751G>T	NCI-TCGA
rs763662353	p.Glu355Gln	missense variant	-	NC_000023.11:g.137568904G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu355Asp	missense variant	-	chrX:g.137568906G>T	NCI-TCGA
rs1556030199	p.Pro357Thr	missense variant	-	NC_000023.11:g.137568910C>A	-
NCI-TCGA novel	p.Pro357His	missense variant	-	chrX:g.137568911C>A	NCI-TCGA
RCV000530572	p.Pro357Thr	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137568910C>A	ClinVar
NCI-TCGA novel	p.Gly364Cys	missense variant	-	chrX:g.137568931G>T	NCI-TCGA
rs1412106690	p.Asp366Gly	missense variant	-	NC_000023.11:g.137568938A>G	TOPMed
NCI-TCGA novel	p.Arg368Cys	missense variant	-	chrX:g.137568943C>T	NCI-TCGA
rs761258496	p.Ala370Val	missense variant	-	NC_000023.11:g.137568950C>T	ExAC,gnomAD
rs1247091334	p.Met379Ile	missense variant	-	NC_000023.11:g.137568978G>C	gnomAD
NCI-TCGA novel	p.His380Asn	missense variant	-	chrX:g.137568979C>A	NCI-TCGA
rs1348071327	p.Thr383Asn	missense variant	-	NC_000023.11:g.137568989C>A	gnomAD
COSM1465920	p.Ser384Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137568992C>T	NCI-TCGA Cosmic
rs750905477	p.Asp385Glu	missense variant	-	NC_000023.11:g.137568996C>G	ExAC,gnomAD
rs756480202	p.Lys391Glu	missense variant	-	NC_000023.11:g.137569012A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser396Phe	missense variant	-	chrX:g.137569028C>T	NCI-TCGA
NCI-TCGA novel	p.Ser401Ile	missense variant	-	chrX:g.137569043G>T	NCI-TCGA
COSM1115870	p.Arg404His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569052G>A	NCI-TCGA Cosmic
COSM1115869	p.Arg404Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569051C>T	NCI-TCGA Cosmic
rs104894962	p.Lys405Glu	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137569054A>G	UniProt,dbSNP
VAR_025635	p.Lys405Glu	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137569054A>G	UniProt
rs104894962	p.Lys405Glu	missense variant	-	NC_000023.11:g.137569054A>G	-
RCV000012191	p.Lys405Glu	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137569054A>G	ClinVar
NCI-TCGA novel	p.Met407Thr	missense variant	-	chrX:g.137569061T>C	NCI-TCGA
rs387906498	p.Lys408Ter	stop gained	-	NC_000023.11:g.137569063A>T	-
RCV000012188	p.Lys408Ter	nonsense	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137569063A>T	ClinVar
COSM5750344	p.Glu411Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.137569897G>T	NCI-TCGA Cosmic
rs754241460	p.Ser412Phe	missense variant	-	NC_000023.11:g.137569901C>T	ExAC,gnomAD
rs755343529	p.Asp416Glu	missense variant	-	NC_000023.11:g.137569914T>G	ExAC,TOPMed,gnomAD
rs1460274829	p.Asp416Ala	missense variant	-	NC_000023.11:g.137569913A>C	TOPMed
RCV000640718	p.Asp416Glu	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137569914T>G	ClinVar
rs752936376	p.Ala421Val	missense variant	-	NC_000023.11:g.137569928C>T	ExAC,gnomAD
rs758600009	p.Glu426Val	missense variant	-	NC_000023.11:g.137569943A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser427Tyr	missense variant	-	chrX:g.137569946C>A	NCI-TCGA
COSM1115872	p.Pro430Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569954C>A	NCI-TCGA Cosmic
rs1466996953	p.Ala432Thr	missense variant	-	NC_000023.11:g.137569960G>A	gnomAD
NCI-TCGA novel	p.Ala432Thr	missense variant	-	chrX:g.137569960G>A	NCI-TCGA
rs1371648380	p.Ile433Val	missense variant	-	NC_000023.11:g.137569963A>G	gnomAD
COSM611101	p.Ala434Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569966G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala434Val	missense variant	-	chrX:g.137569967C>T	NCI-TCGA
NCI-TCGA novel	p.Ala434Asp	missense variant	-	chrX:g.137569967C>A	NCI-TCGA
NCI-TCGA novel	p.Ser435Tyr	missense variant	-	chrX:g.137569970C>A	NCI-TCGA
NCI-TCGA novel	p.Asn437His	missense variant	-	chrX:g.137569975A>C	NCI-TCGA
NCI-TCGA novel	p.Asn437Lys	missense variant	-	chrX:g.137569977C>G	NCI-TCGA
COSM1465923	p.Asp440Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569984G>T	NCI-TCGA Cosmic
rs779799532	p.Thr444Pro	missense variant	-	NC_000023.11:g.137569996A>C	ExAC,gnomAD
COSM456842	p.Ser446Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570003C>G	NCI-TCGA Cosmic
rs749105833	p.Ala447Thr	missense variant	-	NC_000023.11:g.137570005G>A	ExAC,TOPMed,gnomAD
VAR_071334	p.Ala447Gly	Missense	Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]	-	UniProt
rs375086818	p.Val448Ile	missense variant	-	NC_000023.11:g.137570008G>A	ESP,ExAC,TOPMed,gnomAD
rs375086818	p.Val448Phe	missense variant	-	NC_000023.11:g.137570008G>T	ESP,ExAC,TOPMed,gnomAD
rs772780189	p.Gln449Lys	missense variant	-	NC_000023.11:g.137570011C>A	ExAC
rs760042281	p.Gln449His	missense variant	-	NC_000023.11:g.137570013A>T	ExAC
rs766929373	p.Thr450Pro	missense variant	-	NC_000023.11:g.137570014A>C	ExAC
rs776962220	p.Thr450Ile	missense variant	-	NC_000023.11:g.137570015C>T	ExAC
rs758689938	p.Ser451Ile	missense variant	-	NC_000023.11:g.137570018G>T	ExAC,gnomAD
rs758689938	p.Ser451Thr	missense variant	-	NC_000023.11:g.137570018G>C	ExAC,gnomAD
rs1212135973	p.Ser451Gly	missense variant	-	NC_000023.11:g.137570017A>G	gnomAD
rs199708513	p.Thr452Pro	missense variant	-	NC_000023.11:g.137570020A>C	ExAC,gnomAD
rs780074821	p.Gly457Glu	missense variant	-	NC_000023.11:g.137570036G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro460Thr	missense variant	-	chrX:g.137570044C>A	NCI-TCGA
COSM4106993	p.Asn463Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570055C>A	NCI-TCGA Cosmic
COSM4106994	p.Trp465Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570059T>C	NCI-TCGA Cosmic
rs750385251	p.Val467Leu	missense variant	-	NC_000023.11:g.137570065G>C	gnomAD
rs750385251	p.Val467Ile	missense variant	-	NC_000023.11:g.137570065G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003466	Anus, Imperforate	disease	HPO
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0005941	Bone Diseases, Developmental	group	CTD_human
C0010068	Coronary heart disease	disease	BEFREE
C0011813	Dextrocardia	disease	CTD_human;HPO
C0011991	Diarrhea	phenotype	BEFREE
C0013274	Patent ductus arteriosus	disease	HPO
C0014116	Endocardial Cushion Defects	group	HPO
C0018798	Congenital Heart Defects	group	BEFREE;LHGDN
C0018800	Cardiomegaly	phenotype	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0020295	Hydronephrosis	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0023530	Leukopenia	disease	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0027947	Neutropenia	disease	BEFREE
C0037221	Situs Inversus	disease	BEFREE;HPO
C0040588	Tracheoesophageal Fistula	phenotype	HPO
C0040761	Transposition of Great Vessels	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0152424	Common ventricle	disease	HPO
C0158733	Hand polydactyly	disease	HPO
C0220810	Congenital defects	group	BEFREE
C0231246	Failure to gain weight	phenotype	HPO
C0265240	Goldenhar Syndrome	disease	MGD
C0266642	Situs ambiguus	disease	BEFREE;ORPHANET
C0344760	Congenital atresia of mitral valve	disease	HPO
C0344923	Multiple ventricular septal defects	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392482	Common atrium	disease	HPO
C0542518	Enlarged kidney	phenotype	HPO
C0542519	Congenital absence of kidney	disease	HPO
C0549410	Palmar-plantar erythrodysesthesia syndrome	disease	BEFREE
C0600031	Congenital absence of spleen	disease	HPO
C0741916	Cardiac defects	group	BEFREE
C0746883	Febrile Neutropenia	disease	BEFREE
C0852711	Sickle Cell Dactylitis	disease	BEFREE
C1167664	Situs ambiguous	disease	ORPHANET
C1306710	Facial asymmetry	phenotype	CTD_human
C1389016	ATRIOVENTRICULAR CANAL DEFECT	phenotype	HPO
C1405984	Absent radius	disease	HPO
C1415817	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	disease	MGD
C1531773	Currarino triad	disease	GENOMICS_ENGLAND
C1610065	Urethral atresia	disease	HPO
C1735591	VACTERL Association	disease	BEFREE
C1832117	Short humerus	phenotype	HPO
C1834129	Abnormal vertebral morphology	phenotype	HPO
C1838608	Radial aplasia	disease	HPO
C1844020	HETEROTAXY, VISCERAL, 1, X-LINKED	disease	BEFREE;CLINVAR;CTD_human;MGD;UNIPROT
C1845026	Neural tube defects X-linked	disease	BEFREE
C1848599	VACTERL Association With Hydrocephalus	disease	CTD_human
C1849314	absence of radius and ulna	phenotype	HPO
C1853444	Heterotaxy, Visceral, 3, Autosomal	disease	MGD
C1856659	Polysplenia	disease	HPO
C1865572	Proximal placement of thumb	phenotype	HPO
C1866091	Left-Right Axis Malformations	disease	BEFREE
C1956257	Pulmonary Stenosis	disease	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2931228	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	disease	UNIPROT
C3151057	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	disease	MGD
C3151867	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	disease	CLINVAR;MGD;UNIPROT
C3495537	Heterotaxy, Visceral, 5, Autosomal	disease	CTD_human
C3536741	Discordant ventriculoarterial connection	disease	BEFREE;HPO
C3553676	HETEROTAXY, VISCERAL, 6, AUTOSOMAL	disease	MGD
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020839	Multiple vertebral anomalies	phenotype	HPO
C4020840	Abnormal vertebral bodies	phenotype	HPO
C4022693	Posteriorly placed anus	disease	HPO
C4025414	Radial club hand	disease	GENOMICS_ENGLAND
C4049796	Abnormality of cardiovascular system morphology	disease	BEFREE
C4225671	VATER/VACTERL ASSOCIATION	disease	BEFREE
C4277690	Ciliopathies	group	GENOMICS_ENGLAND
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001947	heart looping	IMP
GO:0007368	determination of left/right symmetry	IMP
GO:0007417	central nervous system development	IBA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0030154	cell differentiation	IEA
GO:0030324	lung development	IMP
GO:0035019	somatic stem cell population maintenance	TAS
GO:0035469	determination of pancreatic left/right asymmetry	IMP
GO:0035545	determination of left/right asymmetry in nervous system	IEA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0071907	determination of digestive tract left/right asymmetry	IMP
GO:0071910	determination of liver left/right asymmetry	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-2892247	POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation	TAS
R-HSA-452723	Transcriptional regulation of pluripotent stem cells	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of ZIC3 mRNA	31326446
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of ZIC3 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 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 increased expression of ZIC3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
D000082	Acetaminophen	Acetaminophen affects the expression of ZIC3 mRNA	17562736
C487081	belinostat	belinostat results in increased expression of ZIC3 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C006780	bisphenol A	bisphenol A affects the methylation of ZIC3 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of ZIC3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of ZIC3 mRNA	25181051; 30816183;
D002220	Carbamazepine	Carbamazepine affects the expression of ZIC3 mRNA	25979313
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ZIC3 gene	20938992
D003300	Copper	Copper deficiency results in increased expression of ZIC3 mRNA	26033743
D003471	Cuprizone	Cuprizone results in increased expression of ZIC3 mRNA	27523638
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of ZIC3 mRNA	31326446
D000077209	Decitabine	[Decitabine co-treated with trichostatin A] results in increased expression of ZIC3 mRNA	17524140
D000077209	Decitabine	Decitabine results in decreased expression of ZIC3 mRNA	27915011
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of ZIC3 mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 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 increased expression of ZIC3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C118739	entinostat	entinostat results in increased expression of ZIC3 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ZIC3 gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of ZIC3 promoter	22847954
C039281	furan	furan results in increased methylation of ZIC3 gene	22079235
C029310	lard	lard results in increased expression of ZIC3 mRNA	26115784
D015122	Mercaptopurine	Mercaptopurine results in decreased expression of ZIC3 mRNA	23358152
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ZIC3 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ZIC3 mRNA	23179753
C000622638	MLN7243	MLN7243 results in increased sumoylation of ZIC3 protein	31285264
D009151	Mustard Gas	Mustard Gas results in increased expression of ZIC3 mRNA	15674843
D009532	Nickel	Nickel affects the expression of ZIC3 mRNA	14575637
D009532	Nickel	trichostatin A inhibits the reaction [Nickel affects the expression of ZIC3 mRNA]	14575637
D009534	Niclosamide	Niclosamide results in decreased expression of ZIC3 mRNA	31398420
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ZIC3 mRNA	26272509
D010278	Parathion	Parathion results in increased methylation of ZIC3 promoter	22847954
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of ZIC3 mRNA	21061450
D010936	Plant Extracts	Plant Extracts results in decreased expression of ZIC3 mRNA	23557933
D011374	Progesterone	Progesterone results in increased expression of ZIC3 mRNA	20631399
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of ZIC3 mRNA	27029645
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of ZIC3 mRNA	21427059
D012834	Silver	Silver results in decreased expression of ZIC3 mRNA	26551752
C017947	sodium arsenite	sodium arsenite results in decreased expression of ZIC3 mRNA	29361514
D012999	Soman	Soman results in decreased expression of ZIC3 mRNA	19281266
C012568	terbufos	terbufos results in increased methylation of ZIC3 promoter	22847954
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of ZIC3 mRNA	31326446
C041181	tetrachlorodian	tetrachlorodian results in increased expression of ZIC3 mRNA	31326446
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ZIC3 mRNA	16443690; 18495758;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ZIC3 mRNA	24058054
D014212	Tretinoin	Tretinoin results in decreased expression of ZIC3 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
C012589	trichostatin A	trichostatin A inhibits the reaction [Nickel affects the expression of ZIC3 mRNA]	14575637
C012589	trichostatin A	trichostatin A results in increased expression of ZIC3 mRNA	24935251; 26272509;
C012589	trichostatin A	[Decitabine co-treated with trichostatin A] results in increased expression of ZIC3 mRNA	17524140
C012589	trichostatin A	trichostatin A results in increased expression of ZIC3 mRNA	15901671
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ZIC3 mRNA	25979313; 26072468;
D014635	Valproic Acid	Valproic Acid results in decreased expression of ZIC3 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of ZIC3 mRNA	23179753; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased methylation of ZIC3 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of ZIC3 mRNA	26072468
D014635	Valproic Acid	Valproic Acid results in decreased expression of ZIC3 mRNA	21427059; 24896083;
D014635	Valproic Acid	Valproic Acid results in increased expression of ZIC3 mRNA	15901671
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ZIC3 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ZIC3 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-1056	Heterotaxy
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0818	Triplet repeat expansion
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type
IPR041643	Znf_ZIC

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2
PF18366	zf_ZIC

Gene: ZIC3

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction