CleftGeneDB-Search

Gene: WNT11

Basic information

Tag	Content
Uniprot ID	O96014; B2R8Z6; Q14DE8; Q8WZ98;
Entrez ID	7481
Genbank protein ID	BAB72099.1; CAA73223.1; AAH74791.1; AAH74790.1; AAI13387.1; AAI13389.1; BAG36343.1; CAA74159.1;
Genbank nucleotide ID	NM_004626.2; XM_005274231.1;
Ensembl protein ID	ENSP00000325526
Ensembl nucleotide ID	ENSG00000085741
Gene name	Protein Wnt-11
Gene symbol	WNT11
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26602496; 18413325;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters.
Sequence	MRARPQVCEA LLFALALQTG VCYGIKWLAL SKTPSALALN QTQHCKQLEG LVSAQVQLCR 60 SNLELMHTVV HAAREVMKAC RRAFADMRWN CSSIELAPNY LLDLERGTRE SAFVYALSAA 120 AISHAIARAC TSGDLPGCSC GPVPGEPPGP GNRWGGCADN LSYGLLMGAK FSDAPMKVKK 180 TGSQANKLMR LHNSEVGRQA LRASLEMKCK CHGVSGSCSI RTCWKGLQEL QDVAADLKTR 240 YLSATKVVHR PMGTRKHLVP KDLDIRPVKD SELVYLQSSP DFCMKNEKVG SHGTQDRQCN 300 KTSNGSDSCD LMCCGRGYNP YTDRVVERCH CKYHWCCYVT CRRCERTVER YVCK 354

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	WNT11	613288	F1N4C0			Bos taurus	Prediction	More>>
1:1 ortholog	WNT11	485183	E2QXQ3			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WNT11	102175498	A0A452FJS3			Capra hircus	Prediction	More>>
1:1 ortholog	WNT11	7481	O96014			Homo sapiens	Publication	More>>
1:1 ortholog	Wnt11	22411	P48615	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	WNT11	451431	H2Q4F7			Pan troglodytes	Prediction	More>>
1:1 ortholog	WNT11		I3L5C2			Sus scrofa	Prediction	More>>
1:1 ortholog	Wnt-11	100009030	Q27Q51			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Wnt11	140584	G3V819			Rattus norvegicus	Prediction	More>>
1:1 ortholog	wnt11	30283	Q9I9I2			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT11	rs66374	Genotyping; PDT; and APL	18413325
WNT11	rs7936750*G	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1427540351	p.Arg2Trp	missense variant	-	NC_000011.10:g.76206404T>A	gnomAD
rs1175710465	p.Arg2Met	missense variant	-	NC_000011.10:g.76206403C>A	gnomAD
rs1419765942	p.Arg2Ser	missense variant	-	NC_000011.10:g.76206402C>G	gnomAD
rs1427540351	p.Arg2Gly	missense variant	-	NC_000011.10:g.76206404T>C	gnomAD
rs763829974	p.Arg4Trp	missense variant	-	NC_000011.10:g.76206398G>A	ExAC,TOPMed,gnomAD
rs758652466	p.Arg4Pro	missense variant	-	NC_000011.10:g.76206397C>G	ExAC,gnomAD
rs1362520702	p.Gln6Glu	missense variant	-	NC_000011.10:g.76206392G>C	TOPMed
rs1480292792	p.Val7Phe	missense variant	-	NC_000011.10:g.76206389C>A	gnomAD
rs765357091	p.Cys8Tyr	missense variant	-	NC_000011.10:g.76206385C>T	ExAC,TOPMed,gnomAD
rs1459697623	p.Glu9Lys	missense variant	-	NC_000011.10:g.76206383C>T	gnomAD
rs955609287	p.Leu12Phe	missense variant	-	NC_000011.10:g.76206374G>A	TOPMed
rs766910738	p.Ala16Thr	missense variant	-	NC_000011.10:g.76206362C>T	ExAC,gnomAD
rs1158265622	p.Gln18His	missense variant	-	NC_000011.10:g.76206354C>G	gnomAD
rs773731264	p.Gly20Val	missense variant	-	NC_000011.10:g.76206349C>A	ExAC,gnomAD
rs761201193	p.Gly20Cys	missense variant	-	NC_000011.10:g.76206350C>A	ExAC,gnomAD
rs772524155	p.Val21Met	missense variant	-	NC_000011.10:g.76206347C>T	ExAC,gnomAD
rs1454342130	p.Cys22Ser	missense variant	-	NC_000011.10:g.76206344A>T	gnomAD
rs775257090	p.Ile25Asn	missense variant	-	NC_000011.10:g.76206334A>T	ExAC,TOPMed,gnomAD
rs1157076904	p.Ile25Val	missense variant	-	NC_000011.10:g.76206335T>C	gnomAD
rs1020429252	p.Lys26Asn	missense variant	-	NC_000011.10:g.76206330C>G	TOPMed,gnomAD
rs1470619678	p.Lys26Glu	missense variant	-	NC_000011.10:g.76206332T>C	TOPMed,gnomAD
rs771996935	p.Ala29Val	missense variant	-	NC_000011.10:g.76196716G>A	ExAC,gnomAD
rs778511891	p.Ser31Phe	missense variant	-	NC_000011.10:g.76196710G>A	ExAC,gnomAD
rs1169562111	p.Thr33Ala	missense variant	-	NC_000011.10:g.76196705T>C	gnomAD
rs1196731170	p.Ala38Thr	missense variant	-	NC_000011.10:g.76196690C>T	gnomAD
rs200871564	p.Thr42Met	missense variant	-	NC_000011.10:g.76196677G>A	ESP,ExAC,TOPMed,gnomAD
rs1196691096	p.Gln43His	missense variant	-	NC_000011.10:g.76196673T>G	gnomAD
rs750517838	p.His44Tyr	missense variant	-	NC_000011.10:g.76196672G>A	ExAC,gnomAD
rs768204710	p.Gln47Ter	stop gained	-	NC_000011.10:g.76196663G>A	ExAC,gnomAD
rs762353612	p.Gln47Arg	missense variant	-	NC_000011.10:g.76196662T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly50Asp	missense variant	-	NC_000011.10:g.76196653C>T	NCI-TCGA
rs763347082	p.Ser53Pro	missense variant	-	NC_000011.10:g.76196645A>G	ExAC,TOPMed,gnomAD
rs763347082	p.Ser53Thr	missense variant	-	NC_000011.10:g.76196645A>T	ExAC,TOPMed,gnomAD
rs150798006	p.Arg60Gly	missense variant	-	NC_000011.10:g.76196624G>C	ESP,ExAC,TOPMed,gnomAD
rs150798006	p.Arg60Cys	missense variant	-	NC_000011.10:g.76196624G>A	ESP,ExAC,TOPMed,gnomAD
rs201232636	p.Arg60Leu	missense variant	-	NC_000011.10:g.76196623C>A	ESP,ExAC,TOPMed,gnomAD
rs201232636	p.Arg60His	missense variant	-	NC_000011.10:g.76196623C>T	ESP,ExAC,TOPMed,gnomAD
rs141438138	p.Ser61Asn	missense variant	-	NC_000011.10:g.76196620C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772645921	p.Ser61Gly	missense variant	-	NC_000011.10:g.76196621T>C	ExAC,TOPMed,gnomAD
rs370045676	p.Asn62Lys	missense variant	-	NC_000011.10:g.76196616G>T	ESP,ExAC,TOPMed,gnomAD
rs768373261	p.Leu63Met	missense variant	-	NC_000011.10:g.76196615G>T	ExAC,TOPMed,gnomAD
rs972679057	p.Leu65His	missense variant	-	NC_000011.10:g.76196608A>T	TOPMed,gnomAD
rs1173549137	p.Leu65Phe	missense variant	-	NC_000011.10:g.76196609G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu65Val	missense variant	-	NC_000011.10:g.76196609G>C	NCI-TCGA
NCI-TCGA novel	p.Leu65Pro	missense variant	-	NC_000011.10:g.76196608A>G	NCI-TCGA
rs749086543	p.Met66Leu	missense variant	-	NC_000011.10:g.76196606T>A	ExAC,gnomAD
rs148302020	p.Met66Ile	missense variant	-	NC_000011.10:g.76196604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780479537	p.Met66Thr	missense variant	-	NC_000011.10:g.76196605A>G	ExAC,TOPMed,gnomAD
rs750534442	p.His67Asn	missense variant	-	NC_000011.10:g.76196603G>T	ExAC,gnomAD
rs781372656	p.Thr68Met	missense variant	-	NC_000011.10:g.76196599G>A	ExAC,TOPMed,gnomAD
rs764642869	p.His71Asp	missense variant	-	NC_000011.10:g.76196591G>C	ExAC,gnomAD
rs764642869	p.His71Tyr	missense variant	-	NC_000011.10:g.76196591G>A	ExAC,gnomAD
rs753104980	p.Ala72Thr	missense variant	-	NC_000011.10:g.76196588C>T	ExAC,gnomAD
rs376706959	p.Ala73Thr	missense variant	-	NC_000011.10:g.76196585C>T	ESP,ExAC,TOPMed,gnomAD
rs376706959	p.Ala73Ser	missense variant	-	NC_000011.10:g.76196585C>A	ESP,ExAC,TOPMed,gnomAD
rs1021179747	p.Arg74His	missense variant	-	NC_000011.10:g.76196581C>T	TOPMed,gnomAD
rs771526822	p.Arg74Cys	missense variant	-	NC_000011.10:g.76196582G>A	ExAC,gnomAD
rs771526822	p.Arg74Gly	missense variant	-	NC_000011.10:g.76196582G>C	ExAC,gnomAD
rs774201803	p.Glu75Lys	missense variant	-	NC_000011.10:g.76196579C>T	ExAC,gnomAD
rs749104004	p.Met77Thr	missense variant	-	NC_000011.10:g.76196572A>G	ExAC,TOPMed,gnomAD
rs775358596	p.Met77Ile	missense variant	-	NC_000011.10:g.76196571C>T	ExAC,gnomAD
rs1159851073	p.Lys78Arg	missense variant	-	NC_000011.10:g.76196569T>C	gnomAD
rs1277702831	p.Lys78Asn	missense variant	-	NC_000011.10:g.76196568C>G	gnomAD
rs1471438794	p.Ala79Asp	missense variant	-	NC_000011.10:g.76196566G>T	gnomAD
rs781536011	p.Arg81His	missense variant	-	NC_000011.10:g.76196560C>T	ExAC,TOPMed,gnomAD
rs746048794	p.Arg81Cys	missense variant	-	NC_000011.10:g.76196561G>A	ExAC,gnomAD
rs747101499	p.Arg82Gln	missense variant	-	NC_000011.10:g.76196557C>T	ExAC,TOPMed,gnomAD
rs61736889	p.Arg82Trp	missense variant	-	NC_000011.10:g.76196558G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758876614	p.Ala85Thr	missense variant	-	NC_000011.10:g.76196549C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala85Val	missense variant	-	NC_000011.10:g.76196548G>A	NCI-TCGA
rs1046121955	p.Asp86Asn	missense variant	-	NC_000011.10:g.76196546C>T	gnomAD
rs1246377363	p.Arg88His	missense variant	-	NC_000011.10:g.76196539C>T	gnomAD
rs765532771	p.Arg88Ser	missense variant	-	NC_000011.10:g.76196540G>T	ExAC,TOPMed,gnomAD
rs765532771	p.Arg88Cys	missense variant	-	NC_000011.10:g.76196540G>A	ExAC,TOPMed,gnomAD
rs750112934	p.Trp89Cys	missense variant	-	NC_000011.10:g.76196535C>A	ExAC,gnomAD
rs767132569	p.Ile94Thr	missense variant	-	NC_000011.10:g.76196521A>G	ExAC,gnomAD
rs1446816552	p.Ile94Val	missense variant	-	NC_000011.10:g.76196522T>C	TOPMed,gnomAD
rs1234617541	p.Glu95Lys	missense variant	-	NC_000011.10:g.76196519C>T	TOPMed
rs1007762442	p.Glu95Gly	missense variant	-	NC_000011.10:g.76196518T>C	TOPMed
rs761286215	p.Leu96Phe	missense variant	-	NC_000011.10:g.76196516G>A	ExAC,TOPMed,gnomAD
rs763941967	p.Ala97Thr	missense variant	-	NC_000011.10:g.76196513C>T	ExAC,TOPMed,gnomAD
rs769752851	p.Asn99Lys	missense variant	-	NC_000011.10:g.76196505G>T	ExAC,gnomAD
rs201947483	p.Asn99Thr	missense variant	-	NC_000011.10:g.76196506T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201947483	p.Asn99Ser	missense variant	-	NC_000011.10:g.76196506T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu104Pro	missense variant	-	NC_000011.10:g.76196491A>G	NCI-TCGA
rs1237409875	p.Arg106Gly	missense variant	-	NC_000011.10:g.76196486T>C	TOPMed
rs780407053	p.Arg109Leu	missense variant	-	NC_000011.10:g.76194838C>A	ExAC,gnomAD
rs780407053	p.Arg109Gln	missense variant	-	NC_000011.10:g.76194838C>T	ExAC,gnomAD
rs749656752	p.Arg109Trp	missense variant	-	NC_000011.10:g.76194839G>A	ExAC,gnomAD
rs200521278	p.Ser111Leu	missense variant	-	NC_000011.10:g.76194832G>A	1000Genomes,gnomAD
rs1422921561	p.Val114Met	missense variant	-	NC_000011.10:g.76194824C>T	gnomAD
rs1190518943	p.Tyr115Asn	missense variant	-	NC_000011.10:g.76194821A>T	gnomAD
rs777270687	p.Ala116Val	missense variant	-	NC_000011.10:g.76194817G>A	ExAC,gnomAD
rs752253721	p.Ser118Leu	missense variant	-	NC_000011.10:g.76194811G>A	ExAC,TOPMed,gnomAD
rs1291477956	p.Ala119Ser	missense variant	-	NC_000011.10:g.76194809C>A	gnomAD
rs766162311	p.Ala120Thr	missense variant	-	NC_000011.10:g.76194806C>T	ExAC,TOPMed,gnomAD
rs1132737	p.Ala121Thr	missense variant	-	NC_000011.10:g.76194803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772168875	p.His124Tyr	missense variant	-	NC_000011.10:g.76194794G>A	ExAC,gnomAD
rs1399771939	p.Ala125Asp	missense variant	-	NC_000011.10:g.76194790G>T	gnomAD
rs201061165	p.Ala125Thr	missense variant	-	NC_000011.10:g.76194791C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1337669347	p.Ile126Phe	missense variant	-	NC_000011.10:g.76194788T>A	gnomAD
rs1016370203	p.Ala127Ser	missense variant	-	NC_000011.10:g.76194785C>A	TOPMed,gnomAD
rs1175520048	p.Ala127Val	missense variant	-	NC_000011.10:g.76194784G>A	TOPMed,gnomAD
rs1016370203	p.Ala127Thr	missense variant	-	NC_000011.10:g.76194785C>T	TOPMed,gnomAD
rs769163509	p.Arg128Gln	missense variant	-	NC_000011.10:g.76194781C>T	ExAC,TOPMed,gnomAD
rs763210496	p.Arg128Trp	missense variant	-	NC_000011.10:g.76194782G>A	TOPMed,gnomAD
rs1438881719	p.Ala129Thr	missense variant	-	NC_000011.10:g.76194779C>T	gnomAD
rs1239033025	p.Cys130Ser	missense variant	-	NC_000011.10:g.76194775C>G	TOPMed
rs1243332909	p.Ser132Tyr	missense variant	-	NC_000011.10:g.76194769G>T	TOPMed,gnomAD
rs1243332909	p.Ser132Phe	missense variant	-	NC_000011.10:g.76194769G>A	TOPMed,gnomAD
rs199678134	p.Gly133Ser	missense variant	-	NC_000011.10:g.76194767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199678134	p.Gly133Arg	missense variant	-	NC_000011.10:g.76194767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777550881	p.Asp134Glu	missense variant	-	NC_000011.10:g.76194762G>T	ExAC,TOPMed,gnomAD
rs746206720	p.Asp134His	missense variant	-	NC_000011.10:g.76194764C>G	ExAC,TOPMed,gnomAD
rs746206720	p.Asp134Asn	missense variant	-	NC_000011.10:g.76194764C>T	ExAC,TOPMed,gnomAD
rs758060677	p.Pro136Ser	missense variant	-	NC_000011.10:g.76194758G>A	ExAC,TOPMed,gnomAD
rs1175300958	p.Pro136Leu	missense variant	-	NC_000011.10:g.76194757G>A	gnomAD
rs758060677	p.Pro136Thr	missense variant	-	NC_000011.10:g.76194758G>T	ExAC,TOPMed,gnomAD
rs778521234	p.Gly137Ser	missense variant	-	NC_000011.10:g.76194755C>T	ExAC,TOPMed,gnomAD
rs1431593610	p.Gly141Ser	missense variant	-	NC_000011.10:g.76194743C>T	TOPMed,gnomAD
rs1362331353	p.Gly141Val	missense variant	-	NC_000011.10:g.76194742C>A	gnomAD
rs750177815	p.Val143Ile	missense variant	-	NC_000011.10:g.76194737C>T	ExAC,TOPMed,gnomAD
rs1166730173	p.Val143Ala	missense variant	-	NC_000011.10:g.76194736A>G	gnomAD
rs1280660061	p.Pro144Ser	missense variant	-	NC_000011.10:g.76194734G>A	TOPMed
rs1055689550	p.Pro144Arg	missense variant	-	NC_000011.10:g.76194733G>C	TOPMed
rs1421620452	p.Glu146Lys	missense variant	-	NC_000011.10:g.76194728C>T	gnomAD
rs1486579697	p.Pro148Leu	missense variant	-	NC_000011.10:g.76194721G>A	gnomAD
rs1186542917	p.Pro148Ser	missense variant	-	NC_000011.10:g.76194722G>A	gnomAD
NCI-TCGA novel	p.Pro148His	missense variant	-	NC_000011.10:g.76194721G>T	NCI-TCGA
rs761963983	p.Gly149Arg	missense variant	-	NC_000011.10:g.76194719C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro150Leu	missense variant	-	NC_000011.10:g.76194715G>A	NCI-TCGA
rs200232677	p.Gly151Arg	missense variant	-	NC_000011.10:g.76194713C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200232677	p.Gly151Arg	missense variant	-	NC_000011.10:g.76194713C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs762919465	p.Arg153His	missense variant	-	NC_000011.10:g.76194706C>T	ExAC,TOPMed,gnomAD
rs1247453401	p.Arg153Cys	missense variant	-	NC_000011.10:g.76194707G>A	TOPMed,gnomAD
rs201042075	p.Trp154Ter	stop gained	-	NC_000011.10:g.76194702C>T	1000Genomes,gnomAD
COSM4827529	p.Gly156Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76194697C>T	NCI-TCGA Cosmic
rs371187296	p.Ala158Val	missense variant	-	NC_000011.10:g.76194691G>A	ESP,ExAC,TOPMed,gnomAD
rs1399310579	p.Asn160Ser	missense variant	-	NC_000011.10:g.76194685T>C	gnomAD
rs1315047010	p.Ser162Gly	missense variant	-	NC_000011.10:g.76194680T>C	TOPMed,gnomAD
rs1456218239	p.Gly164Arg	missense variant	-	NC_000011.10:g.76194674C>T	TOPMed,gnomAD
rs1367490876	p.Leu165Phe	missense variant	-	NC_000011.10:g.76194671G>A	gnomAD
rs1343621123	p.Met167Leu	missense variant	-	NC_000011.10:g.76194665T>G	TOPMed
rs147094954	p.Met167Ile	missense variant	-	NC_000011.10:g.76194663C>T	ESP,ExAC,TOPMed,gnomAD
rs963039085	p.Ala169Thr	missense variant	-	NC_000011.10:g.76194659C>T	gnomAD
rs1192384435	p.Lys170Glu	missense variant	-	NC_000011.10:g.76194656T>C	gnomAD
rs141745485	p.Asp173Asn	missense variant	-	NC_000011.10:g.76194647C>T	ESP,ExAC,TOPMed,gnomAD
rs1211957455	p.Ala174Val	missense variant	-	NC_000011.10:g.76194643G>A	gnomAD
rs771869866	p.Met176Val	missense variant	-	NC_000011.10:g.76194638T>C	ExAC,gnomAD
rs987156016	p.Lys177Arg	missense variant	-	NC_000011.10:g.76194634T>C	TOPMed
NCI-TCGA novel	p.Lys177Ter	stop gained	-	NC_000011.10:g.76194635T>A	NCI-TCGA
rs1437420818	p.Val178Met	missense variant	-	NC_000011.10:g.76194632C>T	TOPMed
rs1163593116	p.Lys179Arg	missense variant	-	NC_000011.10:g.76194628T>C	gnomAD
rs1228401597	p.Lys180Asn	missense variant	-	NC_000011.10:g.76194624T>G	gnomAD
COSM1357026	p.Thr181AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.76194622_76194623insT	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr181GlnPheSerTerUnk	frameshift	-	NC_000011.10:g.76194623T>-	NCI-TCGA
rs747759946	p.Gly182Glu	missense variant	-	NC_000011.10:g.76194619C>T	ExAC,gnomAD
rs747759946	p.Gly182Val	missense variant	-	NC_000011.10:g.76194619C>A	ExAC,gnomAD
rs778672727	p.Ser183Pro	missense variant	-	NC_000011.10:g.76194617A>G	ExAC,gnomAD
rs1248504543	p.Ser183Tyr	missense variant	-	NC_000011.10:g.76194616G>T	TOPMed
rs200205438	p.Gln184Lys	missense variant	-	NC_000011.10:g.76194614G>T	ExAC,TOPMed,gnomAD
rs1007590159	p.Ala185Val	missense variant	-	NC_000011.10:g.76194610G>A	TOPMed,gnomAD
rs1007590159	p.Ala185Asp	missense variant	-	NC_000011.10:g.76194610G>T	TOPMed,gnomAD
rs1166444839	p.Asn186Ile	missense variant	-	NC_000011.10:g.76194607T>A	TOPMed
rs1479012903	p.Asn186Asp	missense variant	-	NC_000011.10:g.76194608T>C	TOPMed
rs1325003142	p.Lys187Asn	missense variant	-	NC_000011.10:g.76194603T>A	TOPMed
rs1405573571	p.Lys187Ile	missense variant	-	NC_000011.10:g.76194604T>A	TOPMed
rs1418382933	p.Lys187Ter	stop gained	-	NC_000011.10:g.76194605T>A	TOPMed
rs1298589905	p.Met189Thr	missense variant	-	NC_000011.10:g.76194598A>G	gnomAD
rs889939878	p.Met189Ile	missense variant	-	NC_000011.10:g.76194597C>T	TOPMed,gnomAD
rs1051229461	p.Arg190Cys	missense variant	-	NC_000011.10:g.76194596G>A	TOPMed,gnomAD
rs558779531	p.Arg190His	missense variant	-	NC_000011.10:g.76194595C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1201611230	p.Ser194Asn	missense variant	-	NC_000011.10:g.76194583C>T	gnomAD
rs1378680953	p.Ser194Arg	missense variant	-	NC_000011.10:g.76194584T>G	gnomAD
rs1452898776	p.Ala200Ser	missense variant	-	NC_000011.10:g.76191856C>A	gnomAD
rs374455490	p.Arg202His	missense variant	-	NC_000011.10:g.76191849C>T	ESP,ExAC,TOPMed,gnomAD
rs779375396	p.Arg202Cys	missense variant	-	NC_000011.10:g.76191850G>A	ExAC,TOPMed,gnomAD
rs757101648	p.Ala203Asp	missense variant	-	NC_000011.10:g.76191846G>T	ExAC,gnomAD
rs570846693	p.Ala203Thr	missense variant	-	NC_000011.10:g.76191847C>T	TOPMed,gnomAD
rs757101648	p.Ala203Val	missense variant	-	NC_000011.10:g.76191846G>A	ExAC,gnomAD
rs1378840788	p.Glu206Gln	missense variant	-	NC_000011.10:g.76191838C>G	gnomAD
COSM1704402	p.Met207Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191833C>T	NCI-TCGA Cosmic
rs751350808	p.Met207Thr	missense variant	-	NC_000011.10:g.76191834A>G	ExAC,gnomAD
rs1302886543	p.Gly213Arg	missense variant	-	NC_000011.10:g.76191817C>T	TOPMed
rs965246988	p.Val214Met	missense variant	-	NC_000011.10:g.76191814C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly216Val	missense variant	-	NC_000011.10:g.76191807C>A	NCI-TCGA
rs758489238	p.Ser217Phe	missense variant	-	NC_000011.10:g.76191804G>A	ExAC,TOPMed,gnomAD
rs758489238	p.Ser217Cys	missense variant	-	NC_000011.10:g.76191804G>C	ExAC,TOPMed,gnomAD
rs911080547	p.Ser219Cys	missense variant	-	NC_000011.10:g.76191798G>C	TOPMed
rs753904761	p.Arg221Leu	missense variant	-	NC_000011.10:g.76191792C>A	ExAC,gnomAD
rs753904761	p.Arg221His	missense variant	-	NC_000011.10:g.76191792C>T	ExAC,gnomAD
rs1218682764	p.Arg221Cys	missense variant	-	NC_000011.10:g.76191793G>A	TOPMed,gnomAD
rs765187463	p.Thr222Ile	missense variant	-	NC_000011.10:g.76191789G>A	ExAC,TOPMed,gnomAD
rs765187463	p.Thr222Asn	missense variant	-	NC_000011.10:g.76191789G>T	ExAC,TOPMed,gnomAD
rs754441019	p.Gly226Arg	missense variant	-	NC_000011.10:g.76191778C>T	ExAC,gnomAD
rs1326479514	p.Glu229Lys	missense variant	-	NC_000011.10:g.76191769C>T	gnomAD
rs1402393421	p.Leu230Pro	missense variant	-	NC_000011.10:g.76191765A>G	gnomAD
rs1208227945	p.Asp232Gly	missense variant	-	NC_000011.10:g.76191759T>C	TOPMed
NCI-TCGA novel	p.Ala234Val	missense variant	-	NC_000011.10:g.76191753G>A	NCI-TCGA
rs1203403474	p.Ala235Thr	missense variant	-	NC_000011.10:g.76191751C>T	gnomAD
rs1297907664	p.Ala235Gly	missense variant	-	NC_000011.10:g.76191750G>C	gnomAD
COSM932053	p.Leu237Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191745G>C	NCI-TCGA Cosmic
rs762465797	p.Lys238Asn	missense variant	-	NC_000011.10:g.76191740C>G	ExAC,gnomAD
rs775097764	p.Thr239Ala	missense variant	-	NC_000011.10:g.76191739T>C	ExAC,TOPMed,gnomAD
rs140169859	p.Arg240Gln	missense variant	-	NC_000011.10:g.76191735C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1161648725	p.Arg240Ter	stop gained	-	NC_000011.10:g.76191736G>A	gnomAD
rs1286965869	p.Tyr241His	missense variant	-	NC_000011.10:g.76191733A>G	gnomAD
rs745360856	p.Leu242Pro	missense variant	-	NC_000011.10:g.76191729A>G	ExAC,gnomAD
COSM932052	p.Leu242Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191729A>C	NCI-TCGA Cosmic
rs781172349	p.Ser243Leu	missense variant	-	NC_000011.10:g.76191726G>A	ExAC,TOPMed,gnomAD
rs1262407117	p.Ala244Thr	missense variant	-	NC_000011.10:g.76191724C>T	gnomAD
rs746817533	p.Thr245Ala	missense variant	-	NC_000011.10:g.76191721T>C	ExAC,gnomAD
rs746817533	p.Thr245Ser	missense variant	-	NC_000011.10:g.76191721T>A	ExAC,gnomAD
rs376730016	p.Val248Ala	missense variant	-	NC_000011.10:g.76191711A>G	ESP,ExAC,TOPMed,gnomAD
rs376730016	p.Val248Gly	missense variant	-	NC_000011.10:g.76191711A>C	ESP,ExAC,TOPMed,gnomAD
rs1318234526	p.His249Asp	missense variant	-	NC_000011.10:g.76191709G>C	gnomAD
rs752898406	p.His249Gln	missense variant	-	NC_000011.10:g.76191707G>C	ExAC,TOPMed,gnomAD
rs528803907	p.Arg250Gln	missense variant	-	NC_000011.10:g.76191705C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs755075137	p.Arg250Ter	stop gained	-	NC_000011.10:g.76191706G>A	ExAC,gnomAD
COSM3453403	p.Pro251Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191702G>A	NCI-TCGA Cosmic
rs1456375563	p.Met252Thr	missense variant	-	NC_000011.10:g.76191699A>G	TOPMed
rs767000407	p.Met252Leu	missense variant	-	NC_000011.10:g.76191700T>G	ExAC,TOPMed,gnomAD
rs761208995	p.Gly253Val	missense variant	-	NC_000011.10:g.76191696C>A	ExAC,gnomAD
rs372285002	p.Arg255Cys	missense variant	-	NC_000011.10:g.76191691G>A	ESP,ExAC,TOPMed,gnomAD
rs150685279	p.Arg255His	missense variant	-	NC_000011.10:g.76191690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1464050217	p.His257Gln	missense variant	-	NC_000011.10:g.76191683G>C	TOPMed
NCI-TCGA novel	p.Val259Ala	missense variant	-	NC_000011.10:g.76191678A>G	NCI-TCGA
rs775055023	p.Pro260His	missense variant	-	NC_000011.10:g.76191675G>T	ExAC,TOPMed,gnomAD
rs775055023	p.Pro260Leu	missense variant	-	NC_000011.10:g.76191675G>A	ExAC,TOPMed,gnomAD
rs762207237	p.Pro260Thr	missense variant	-	NC_000011.10:g.76191676G>T	ExAC,gnomAD
COSM6070350	p.Lys261Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191671C>A	NCI-TCGA Cosmic
rs769482761	p.Asp262Glu	missense variant	-	NC_000011.10:g.76191668G>C	ExAC,TOPMed,gnomAD
rs1286189100	p.Ile265Met	missense variant	-	NC_000011.10:g.76191659G>C	TOPMed
rs915179991	p.Arg266Trp	missense variant	-	NC_000011.10:g.76191658G>A	TOPMed,gnomAD
rs990623129	p.Arg266Gln	missense variant	-	NC_000011.10:g.76191657C>T	TOPMed,gnomAD
rs776060379	p.Pro267Ala	missense variant	-	NC_000011.10:g.76191655G>C	ExAC,TOPMed,gnomAD
rs776060379	p.Pro267Thr	missense variant	-	NC_000011.10:g.76191655G>T	ExAC,TOPMed,gnomAD
rs770874966	p.Val268Leu	missense variant	-	NC_000011.10:g.76191652C>A	ExAC,TOPMed,gnomAD
rs770874966	p.Val268Met	missense variant	-	NC_000011.10:g.76191652C>T	ExAC,TOPMed,gnomAD
rs746907143	p.Lys269Asn	missense variant	-	NC_000011.10:g.76191647C>G	ExAC
NCI-TCGA novel	p.Lys269Asn	missense variant	-	NC_000011.10:g.76191647C>A	NCI-TCGA
rs1053301	p.Ser271Trp	missense variant	-	NC_000011.10:g.76191642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1053301	p.Ser271Leu	missense variant	-	NC_000011.10:g.76191642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208059426	p.Ser271Ala	missense variant	-	NC_000011.10:g.76191643A>C	TOPMed
rs1316715364	p.Leu273Phe	missense variant	-	NC_000011.10:g.76191637G>A	gnomAD
rs780236055	p.Val274Phe	missense variant	-	NC_000011.10:g.76191634C>A	ExAC,TOPMed,gnomAD
rs780236055	p.Val274Ile	missense variant	-	NC_000011.10:g.76191634C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln277His	missense variant	-	NC_000011.10:g.76191623C>A	NCI-TCGA
rs757621734	p.Ser278Arg	missense variant	-	NC_000011.10:g.76191620G>T	ExAC,gnomAD
rs1174013486	p.Ser278Ile	missense variant	-	NC_000011.10:g.76191621C>A	gnomAD
rs751009445	p.Ser278Arg	missense variant	-	NC_000011.10:g.76191622T>G	ExAC
rs751885211	p.Asp281Asn	missense variant	-	NC_000011.10:g.76191613C>T	ExAC,gnomAD
rs764808739	p.Glu287Asp	missense variant	-	NC_000011.10:g.76191593C>G	ExAC,gnomAD
rs368098788	p.Val289Met	missense variant	-	NC_000011.10:g.76191589C>T	ESP,ExAC,TOPMed,gnomAD
rs1306016383	p.Gly290Ala	missense variant	-	NC_000011.10:g.76191585C>G	TOPMed
NCI-TCGA novel	p.Gly290Val	missense variant	-	NC_000011.10:g.76191585C>A	NCI-TCGA
rs1369731847	p.Ser291Thr	missense variant	-	NC_000011.10:g.76191583A>T	TOPMed
rs765911237	p.Gly293Trp	missense variant	-	NC_000011.10:g.76191577C>A	ExAC,TOPMed
rs765911237	p.Gly293Arg	missense variant	-	NC_000011.10:g.76191577C>T	ExAC,TOPMed
NCI-TCGA novel	p.Thr294Arg	missense variant	-	NC_000011.10:g.76191573G>C	NCI-TCGA
rs201578613	p.Gln295Lys	missense variant	-	NC_000011.10:g.76191571G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201578613	p.Gln295Glu	missense variant	-	NC_000011.10:g.76191571G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201578613	p.Gln295Ter	stop gained	-	NC_000011.10:g.76191571G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1191153940	p.Asp296Gly	missense variant	-	NC_000011.10:g.76191567T>C	gnomAD
rs1250072968	p.Gln298Ter	stop gained	-	NC_000011.10:g.76187238G>A	gnomAD
NCI-TCGA novel	p.Lys301Asn	missense variant	-	NC_000011.10:g.76187227C>A	NCI-TCGA
rs1021925005	p.Lys301Asn	missense variant	-	NC_000011.10:g.76187227C>G	TOPMed
rs752714038	p.Gly305Arg	missense variant	-	NC_000011.10:g.76187217C>T	ExAC,TOPMed,gnomAD
rs775912689	p.Ser306Arg	missense variant	-	NC_000011.10:g.76187212G>T	ExAC,TOPMed,gnomAD
rs770136447	p.Asp307Asn	missense variant	-	NC_000011.10:g.76187211C>T	ExAC,TOPMed,gnomAD
rs1362382326	p.Ser308Arg	missense variant	-	NC_000011.10:g.76187206G>T	gnomAD
NCI-TCGA novel	p.Ser308Asn	missense variant	-	NC_000011.10:g.76187207C>T	NCI-TCGA
rs145963588	p.Cys309Ter	stop gained	-	NC_000011.10:g.76187203G>T	ESP,ExAC,TOPMed,gnomAD
rs1296058949	p.Cys309Ser	missense variant	-	NC_000011.10:g.76187205A>T	gnomAD
rs771371866	p.Asp310Tyr	missense variant	-	NC_000011.10:g.76187202C>A	ExAC,TOPMed,gnomAD
rs771371866	p.Asp310Asn	missense variant	-	NC_000011.10:g.76187202C>T	ExAC,TOPMed,gnomAD
rs771371866	p.Asp310His	missense variant	-	NC_000011.10:g.76187202C>G	ExAC,TOPMed,gnomAD
rs1166437977	p.Leu311His	missense variant	-	NC_000011.10:g.76187198A>T	gnomAD
rs1421745497	p.Met312Leu	missense variant	-	NC_000011.10:g.76187196T>A	gnomAD
rs1279535011	p.Met312Ile	missense variant	-	NC_000011.10:g.76187194C>T	gnomAD
rs1416516098	p.Cys313Tyr	missense variant	-	NC_000011.10:g.76187192C>T	gnomAD
rs778229304	p.Gly315Arg	missense variant	-	NC_000011.10:g.76187187C>T	ExAC,TOPMed,gnomAD
rs758816226	p.Arg316His	missense variant	-	NC_000011.10:g.76187183C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg316Gly	missense variant	-	NC_000011.10:g.76187184G>C	NCI-TCGA
RCV000172903	p.Arg316His	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000011.10:g.76187183C>T	ClinVar
COSM4036776	p.Tyr321Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187168T>C	NCI-TCGA Cosmic
rs753052445	p.Asp323His	missense variant	-	NC_000011.10:g.76187163C>G	ExAC,gnomAD
rs1266452703	p.Asp323Glu	missense variant	-	NC_000011.10:g.76187161G>C	gnomAD
NCI-TCGA novel	p.Asp323Gly	missense variant	-	NC_000011.10:g.76187162T>C	NCI-TCGA
rs779689536	p.Arg324Cys	missense variant	-	NC_000011.10:g.76187160G>A	ExAC,TOPMed,gnomAD
rs755738744	p.Arg324His	missense variant	-	NC_000011.10:g.76187159C>T	ExAC,TOPMed,gnomAD
rs755738744	p.Arg324Leu	missense variant	-	NC_000011.10:g.76187159C>A	ExAC,TOPMed,gnomAD
rs751567375	p.Val325Met	missense variant	-	NC_000011.10:g.76187157C>T	ExAC,gnomAD
rs751567375	p.Val325Leu	missense variant	-	NC_000011.10:g.76187157C>A	ExAC,gnomAD
rs148453764	p.Glu327Lys	missense variant	-	NC_000011.10:g.76187151C>T	ESP,gnomAD
rs559115261	p.Arg328Gln	missense variant	-	NC_000011.10:g.76187147C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762909664	p.Arg328Trp	missense variant	-	NC_000011.10:g.76187148G>A	ExAC,gnomAD
rs940362550	p.Cys331Tyr	missense variant	-	NC_000011.10:g.76187138C>T	gnomAD
rs940362550	p.Cys331Ser	missense variant	-	NC_000011.10:g.76187138C>G	gnomAD
rs1393289398	p.His334Pro	missense variant	-	NC_000011.10:g.76187129T>G	gnomAD
rs144527675	p.Tyr338Ter	stop gained	-	NC_000011.10:g.76187116G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759762868	p.Val339Ile	missense variant	-	NC_000011.10:g.76187115C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val339Ala	missense variant	-	NC_000011.10:g.76187114A>G	NCI-TCGA
rs776685568	p.Thr340Pro	missense variant	-	NC_000011.10:g.76187112T>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys341Arg	missense variant	-	NC_000011.10:g.76187109A>G	NCI-TCGA
rs771088448	p.Arg342Ser	missense variant	-	NC_000011.10:g.76187106G>T	ExAC,gnomAD
rs747044515	p.Arg342His	missense variant	-	NC_000011.10:g.76187105C>T	ExAC,TOPMed,gnomAD
rs771088448	p.Arg342Cys	missense variant	-	NC_000011.10:g.76187106G>A	ExAC,gnomAD
rs1193291113	p.Arg343Lys	missense variant	-	NC_000011.10:g.76187102C>T	TOPMed,gnomAD
rs199900382	p.Arg343Ser	missense variant	-	NC_000011.10:g.76187101C>A	ExAC,TOPMed,gnomAD
COSM3967840	p.Cys344Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187099C>A	NCI-TCGA Cosmic
rs1272817587	p.Glu345Ala	missense variant	-	NC_000011.10:g.76187096T>G	gnomAD
rs772496816	p.Arg346Cys	missense variant	-	NC_000011.10:g.76187094G>A	ExAC,TOPMed,gnomAD
rs149329237	p.Arg346His	missense variant	-	NC_000011.10:g.76187093C>T	ESP,ExAC,gnomAD
rs772496816	p.Arg346Ser	missense variant	-	NC_000011.10:g.76187094G>T	ExAC,TOPMed,gnomAD
rs1256294900	p.Thr347Ala	missense variant	-	NC_000011.10:g.76187091T>C	gnomAD
rs755755807	p.Val348Met	missense variant	-	NC_000011.10:g.76187088C>T	ExAC,TOPMed,gnomAD
rs1384880608	p.Glu349Lys	missense variant	-	NC_000011.10:g.76187085C>T	TOPMed,gnomAD
rs751111073	p.Arg350His	missense variant	-	NC_000011.10:g.76187081C>T	ExAC,gnomAD
rs756851051	p.Arg350Ser	missense variant	-	NC_000011.10:g.76187082G>T	ExAC,TOPMed,gnomAD
rs756851051	p.Arg350Cys	missense variant	-	NC_000011.10:g.76187082G>A	ExAC,TOPMed,gnomAD
rs764133378	p.Tyr351His	missense variant	-	NC_000011.10:g.76187079A>G	ExAC,TOPMed,gnomAD
COSM291093	p.Tyr351Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187078T>C	NCI-TCGA Cosmic
rs762934293	p.Tyr351Ser	missense variant	-	NC_000011.10:g.76187078T>G	ExAC,TOPMed,gnomAD
rs138625233	p.Val352Phe	missense variant	-	NC_000011.10:g.76187076C>A	ESP,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000771	Abnormalities, Drug-Induced	phenotype	CTD_human
C0001418	Adenocarcinoma	group	LHGDN
C0004623	Bacterial Infections	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	LHGDN
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007873	Uterine Cervical Neoplasm	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0041956	Ureteral obstruction	phenotype	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0235833	Congenital diaphragmatic hernia	disease	CTD_human
C0265699	Congenital hernia of foramen of Morgagni	disease	CTD_human
C0265700	Congenital hernia of foramen of Bochdalek	disease	CTD_human
C0279565	Invasive Lobular Breast Carcinoma	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0429087	Electrocardiogram: P-R interval	phenotype	GWASCAT;GWASDB
C0520877	PR interval feature	phenotype	GWASCAT;GWASDB
C0555198	Malignant Glioma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005096	GTPase activator activity	IMP
GO:0005109	frizzled binding	IBA
GO:0005109	frizzled binding	NAS
GO:0005515	protein binding	IPI
GO:0030295	protein kinase activator activity	IMP
GO:0044212	transcription regulatory region DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001649	osteoblast differentiation	IEA
GO:0001837	epithelial to mesenchymal transition	IEA
GO:0003138	primary heart field specification	IEA
GO:0003139	secondary heart field specification	IEA
GO:0003151	outflow tract morphogenesis	IEA
GO:0003283	atrial septum development	IEA
GO:0003402	planar cell polarity pathway involved in axis elongation	IEA
GO:0006468	protein phosphorylation	IMP
GO:0007223	Wnt signaling pathway, calcium modulating pathway	NAS
GO:0010628	positive regulation of gene expression	IMP
GO:0016055	Wnt signaling pathway	IBA
GO:0016055	Wnt signaling pathway	TAS
GO:0030182	neuron differentiation	ISS
GO:0030182	neuron differentiation	IBA
GO:0030282	bone mineralization	IEA
GO:0030308	negative regulation of cell growth	IMP
GO:0030325	adrenal gland development	IEP
GO:0030335	positive regulation of cell migration	IMP
GO:0030336	negative regulation of cell migration	IMP
GO:0031667	response to nutrient levels	IEA
GO:0032147	activation of protein kinase activity	IEA
GO:0032915	positive regulation of transforming growth factor beta2 production	IEA
GO:0034394	protein localization to cell surface	IMP
GO:0043065	positive regulation of apoptotic process	IEA
GO:0043066	negative regulation of apoptotic process	IMP
GO:0043547	positive regulation of GTPase activity	IMP
GO:0045165	cell fate commitment	IBA
GO:0045199	maintenance of epithelial cell apical/basal polarity	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0048341	paraxial mesoderm formation	IEA
GO:0048570	notochord morphogenesis	IEA
GO:0048706	embryonic skeletal system development	IEP
GO:0048844	artery morphogenesis	IEA
GO:0051496	positive regulation of stress fiber assembly	IMP
GO:0060028	convergent extension involved in axis elongation	IEA
GO:0060070	canonical Wnt signaling pathway	IEA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060197	cloacal septation	IEP
GO:0060412	ventricular septum morphogenesis	IEA
GO:0060484	lung-associated mesenchyme development	IEP
GO:0060548	negative regulation of cell death	IMP
GO:0060675	ureteric bud morphogenesis	IEP
GO:0060775	planar cell polarity pathway involved in gastrula mediolateral intercalation	IEA
GO:0061037	negative regulation of cartilage development	NAS
GO:0061053	somite development	IEA
GO:0061101	neuroendocrine cell differentiation	IMP
GO:0062009	secondary palate development	IMP
GO:0070830	bicellular tight junction assembly	IEA
GO:0071260	cellular response to mechanical stimulus	IEA
GO:0071300	cellular response to retinoic acid	ISS
GO:0072177	mesonephric duct development	IEP
GO:0072201	negative regulation of mesenchymal cell proliferation	IEA
GO:0090037	positive regulation of protein kinase C signaling	IMP
GO:0090082	positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:0090272	negative regulation of fibroblast growth factor production	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA
GO:0005737	cytoplasm	IDA
GO:0031012	extracellular matrix	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-3238698	WNT ligand biogenesis and trafficking	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086398	Ca2+ pathway	TAS
R-HSA-4086398	Ca2+ pathway	IEA
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-500792	GPCR ligand binding	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WNT11 mRNA	28628672
C486184	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol results in decreased expression of WNT11 mRNA	22445810
C496492	abrine	abrine results in increased expression of WNT11 mRNA	22595364
D000082	Acetaminophen	Acetaminophen affects the expression of WNT11 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of WNT11 gene	27153756
D000447	Aldehydes	Aldehydes results in increased expression of WNT11 mRNA	25014914
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of WNT11 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of WNT11 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of WNT11 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of WNT11 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of WNT11 gene	25304211
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA	28189605
D001205	Ascorbic Acid	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA]	28189605
C547126	AZM551248	AZM551248 results in decreased expression of WNT11 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of WNT11 mRNA	20106945; 21632981; 22316170;
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA	28189605
C031463	beta-glycerophosphoric acid	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA]	28189605
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of WNT11 mRNA	27685785
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of WNT11 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased methylation of WNT11 exon	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of WNT11 intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of WNT11 promoter	30906313
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WNT11 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of WNT11 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of WNT11 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of WNT11 mRNA	29323181
C000611646	bisphenol F	bisphenol F results in increased expression of WNT11 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of WNT11 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of WNT11 mRNA	23741332
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of WNT11 mRNA	20478370
C037123	cadmium sulfate	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA]	28189605
D002185	Cannabidiol	Cannabidiol affects the methylation of WNT11 gene	30521419
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of WNT11 mRNA	23650126
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of WNT11 mRNA	21356183
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of WNT11 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of WNT11 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of WNT11 mRNA	22023808
D019327	Copper Sulfate	Copper Sulfate results in increased expression of WNT11 mRNA	19549813
C107676	deguelin	deguelin results in increased expression of WNT11 mRNA	19861542
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WNT11 mRNA	28628672
D003907	Dexamethasone	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA	28189605
D003907	Dexamethasone	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of WNT11 mRNA]	28189605
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of WNT11 mRNA	21266533
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of WNT11 mRNA	26924002
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of WNT11 mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of WNT11 mRNA	22677342
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of WNT11 mRNA	22445810
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of WNT11 mRNA	26924002
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide affects the expression of WNT11 mRNA	24834073
D004317	Doxorubicin	Doxorubicin results in decreased expression of WNT11 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of WNT11 mRNA	29391264
D004958	Estradiol	Estradiol results in decreased expression of WNT11 mRNA	23144751
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of WNT11 mRNA	23129252
C061365	flusilazole	flusilazole results in increased expression of WNT11 mRNA	22382673
D000077340	Fluvastatin	[Zoledronic Acid co-treated with Fluvastatin] results in increased expression of WNT11 mRNA	16996129
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT11 mRNA	22959928
C039281	furan	furan results in increased expression of WNT11 mRNA	27387713
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WNT11 mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of WNT11 mRNA	28201806
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of WNT11 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in increased expression of WNT11 mRNA	28988120
C025340	manganese chloride	manganese chloride results in increased expression of WNT11 mRNA	28801915
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of WNT11 mRNA	27544571
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of WNT11 mRNA	26924002
D009532	Nickel	Nickel results in decreased expression of WNT11 mRNA	19130878
C028007	nickel monoxide	nickel monoxide results in decreased expression of WNT11 mRNA	19167457
C007350	nitrofen	nitrofen results in increased expression of WNT11 mRNA	25783350
C046012	pentanal	pentanal results in increased expression of WNT11 mRNA	26079696
C011272	perfosfamide	perfosfamide results in increased expression of WNT11 mRNA	19429390
D010634	Phenobarbital	Phenobarbital results in increased expression of WNT11 mRNA	22037397
D011374	Progesterone	Progesterone results in increased expression of WNT11 mRNA	23012394
D011374	Progesterone	Progesterone results in increased expression of WNT11 mRNA	19164167; 22238285;
D011374	Progesterone	Progesterone results in decreased expression of WNT11 mRNA	19690047
C005556	propionaldehyde	propionaldehyde results in increased expression of WNT11 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of WNT11 mRNA	24780913
D011794	Quercetin	Quercetin results in increased expression of WNT11 mRNA	21632981
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of WNT11 mRNA	15849065
C009166	retinol acetate	retinol acetate results in increased expression of WNT11 mRNA	16772331
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of WNT11 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of WNT11 mRNA	29301061
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT11 mRNA	22959928
C017947	sodium arsenite	sodium arsenite results in increased expression of WNT11 mRNA	16014739
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of WNT11 mRNA	18175754
D000077210	Sunitinib	Sunitinib results in increased expression of WNT11 mRNA	31533062
C020806	tetrabromobisphenol A	tetrabromobisphenol A affects the expression of WNT11 mRNA	18976794
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of WNT11 mRNA	16443690
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WNT11 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WNT11 mRNA	21570461
D014118	Toxins, Biological	Toxins, Biological affects the expression of WNT11 mRNA	19682533
C012589	trichostatin A	trichostatin A results in decreased expression of WNT11 mRNA	15901671
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of WNT11 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of WNT11 mRNA	26743178
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of WNT11 mRNA	26179874
D014520	Urethane	Urethane results in increased expression of WNT11 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in increased expression of WNT11 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased methylation of WNT11 gene	29154799
D014635	Valproic Acid	Valproic Acid results in decreased expression of WNT11 mRNA	15901671
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of WNT11 gene	25560391
D000077211	Zoledronic Acid	[Zoledronic Acid co-treated with Fluvastatin] results in increased expression of WNT11 mRNA	16996129

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0449	Lipoprotein
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR005817	Wnt
IPR026536	Wnt-11
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: WNT11

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

Identified variants/mutations related to cleft phenotype

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