CleftGeneDB-Search

Gene: NECTIN1

Basic information

Tag	Content
Uniprot ID	Q15223; O75465; Q2M3D3; Q9HBE6; Q9HBW2;
Entrez ID	5818
Genbank protein ID	AAI13472.1; AAG16649.1; CAA53980.2; AAI04949.1; AAG16648.1; AAK33124.1; AAC23798.1;
Genbank nucleotide ID	NM_203286.1; NM_203285.1; NM_002855.4;
Ensembl protein ID	ENSP00000344974; ENSP00000345289; ENSP00000264025;
Ensembl nucleotide ID	ENSG00000110400
Gene name	Nectin-1
Gene symbol	NECTIN1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	11559849; 26953873; 16122939; 18356023; 19715471; 10932188; 16674562; 24581844; 17089422;
Functional description	Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity.
Sequence	MARMGLAGAA GRWWGLALGL TAFFLPGVHS QVVQVNDSMY GFIGTDVVLH CSFANPLPSV 60 KITQVTWQKS TNGSKQNVAI YNPSMGVSVL APYRERVEFL RPSFTDGTIR LSRLELEDEG 120 VYICEFATFP TGNRESQLNL TVMAKPTNWI EGTQAVLRAK KGQDDKVLVA TCTSANGKPP 180 SVVSWETRLK GEAEYQEIRN PNGTVTVISR YRLVPSREAH QQSLACIVNY HMDRFKESLT 240 LNVQYEPEVT IEGFDGNWYL QRMDVKLTCK ADANPPATEY HWTTLNGSLP KGVEAQNRTL 300 FFKGPINYSL AGTYICEATN PIGTRSGQVE VNITEFPYTP SPPEHGRRAG PVPTAIIGGV 360 AGSILLVLIV VGGIVVALRR RRHTFKGDYS TKKHVYGNGY SKAGIPQHHP PMAQNLQYPD 420 DSDDEKKAGP LGGSSYEEEE EEEEGGGGGE RKVGGPHPKY DEDAKRPYFT VDEAEARQDG 480 YGDRTLGYQY DPEQLDLAEN MVSQNDGSFI SKKEWYV 517

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.

Protein structural annotations

3D structure in PDB database

PDB ID
3ALP
3SKU
3U82
3U83
4FMF
4MYW

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	NECTIN1	489363	F1PCB6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NECTIN1		A0A452G6R9		Capra hircus	Prediction	More>>
1:1 ortholog	NECTIN1	5818	Q15223		Homo sapiens	Publication	More>>
1:1 ortholog	Nectin1	58235	Q9JKF6	E15.0	Mus musculus	Prediction	More>>
1:1 ortholog	NECTIN1		H2Q4Y8		Pan troglodytes	Prediction	More>>
1:1 ortholog	NECTIN1		F1S9T5		Sus scrofa	Prediction	More>>
1:1 ortholog	Nectin1	192183	F1LNP8		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1166277608	p.Ala2Val	missense variant	-	NC_000011.10:g.119728549G>A	TOPMed,gnomAD
rs1182569400	p.Arg3Gly	missense variant	-	NC_000011.10:g.119728547G>C	TOPMed
rs1234549550	p.Ala7Val	missense variant	-	NC_000011.10:g.119728534G>A	TOPMed
rs935113321	p.Gly11Glu	missense variant	-	NC_000011.10:g.119728522C>T	TOPMed,gnomAD
rs772860904	p.Arg12Leu	missense variant	-	NC_000011.10:g.119728519C>A	ExAC,TOPMed,gnomAD
rs199772536	p.Leu18Phe	missense variant	-	NC_000011.10:g.119728502G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775567703	p.Leu20Phe	missense variant	-	NC_000011.10:g.119728494C>A	ExAC,gnomAD
rs1313805070	p.Thr21Ile	missense variant	-	NC_000011.10:g.119728492G>A	gnomAD
rs772078803	p.Ala22Thr	missense variant	-	NC_000011.10:g.119728490C>T	ExAC,gnomAD
rs772078803	p.Ala22Ser	missense variant	-	NC_000011.10:g.119728490C>A	ExAC,gnomAD
rs561234624	p.Ala22Val	missense variant	-	NC_000011.10:g.119728489G>A	1000Genomes,ExAC,gnomAD
rs1369381287	p.Pro26Leu	missense variant	-	NC_000011.10:g.119728477G>A	gnomAD
rs1409930284	p.Pro26Ala	missense variant	-	NC_000011.10:g.119728478G>C	gnomAD
rs1488556503	p.Gly27Asp	missense variant	-	NC_000011.10:g.119678765C>T	TOPMed,gnomAD
rs1488556503	p.Gly27Ala	missense variant	-	NC_000011.10:g.119678765C>G	TOPMed,gnomAD
rs200377205	p.Val28Ile	missense variant	-	NC_000011.10:g.119678763C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val28Ala	missense variant	-	NC_000011.10:g.119678762A>G	NCI-TCGA
rs1343875215	p.Ser30Phe	missense variant	-	NC_000011.10:g.119678756G>A	gnomAD
NCI-TCGA novel	p.Gln31Leu	missense variant	-	NC_000011.10:g.119678753T>A	NCI-TCGA
NCI-TCGA novel	p.Gln31ProPheSerTerUnk	frameshift	-	NC_000011.10:g.119678755_119678756insGA	NCI-TCGA
rs1467396266	p.Val33Asp	missense variant	-	NC_000011.10:g.119678747A>T	TOPMed
rs1467396266	p.Val33Ala	missense variant	-	NC_000011.10:g.119678747A>G	TOPMed
NCI-TCGA novel	p.Gln34Leu	missense variant	-	NC_000011.10:g.119678744T>A	NCI-TCGA
rs1297812144	p.Gln34Ter	stop gained	-	NC_000011.10:g.119678745G>A	gnomAD
NCI-TCGA novel	p.Asp37Gly	missense variant	-	NC_000011.10:g.119678735T>C	NCI-TCGA
rs758090526	p.Asp37Asn	missense variant	-	NC_000011.10:g.119678736C>T	ExAC,TOPMed,gnomAD
rs553054866	p.Ser38Cys	missense variant	-	NC_000011.10:g.119678732G>C	1000Genomes,ExAC,gnomAD
rs1175998943	p.Met39Ile	missense variant	-	NC_000011.10:g.119678728C>T	TOPMed
rs200212477	p.Met39Thr	missense variant	-	NC_000011.10:g.119678729A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs908869648	p.Ile43Met	missense variant	-	NC_000011.10:g.119678716G>C	TOPMed,gnomAD
COSM1585438	p.Gly44Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678714C>T	NCI-TCGA Cosmic
rs137991779	p.Gly44Ser	missense variant	-	NC_000011.10:g.119678715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764063118	p.Thr45Ile	missense variant	-	NC_000011.10:g.119678711G>A	ExAC,gnomAD
rs774525197	p.Val47Met	missense variant	-	NC_000011.10:g.119678706C>T	ExAC,TOPMed,gnomAD
rs766323438	p.Val48Phe	missense variant	-	NC_000011.10:g.119678703C>A	ExAC,TOPMed,gnomAD
rs1483727222	p.Ser52Thr	missense variant	-	NC_000011.10:g.119678690C>G	gnomAD
rs1274957915	p.Asn55Lys	missense variant	-	NC_000011.10:g.119678680G>T	TOPMed,gnomAD
rs773242843	p.Pro56Leu	missense variant	-	NC_000011.10:g.119678678G>A	ExAC,TOPMed,gnomAD
rs139418917	p.Ser59Arg	missense variant	-	NC_000011.10:g.119678668G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748582329	p.Val60Met	missense variant	-	NC_000011.10:g.119678667C>T	ExAC,TOPMed,gnomAD
rs777114079	p.Val60Gly	missense variant	-	NC_000011.10:g.119678666A>C	ExAC,gnomAD
COSM6131602	p.Thr63Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678658T>A	NCI-TCGA Cosmic
rs368373192	p.Val65Leu	missense variant	-	NC_000011.10:g.119678652C>G	ESP,TOPMed,gnomAD
rs368373192	p.Val65Ile	missense variant	-	NC_000011.10:g.119678652C>T	ESP,TOPMed,gnomAD
rs554886068	p.Thr66Ser	missense variant	-	NC_000011.10:g.119678649T>A	1000Genomes,ExAC,gnomAD
rs1308930440	p.Thr66Ile	missense variant	-	NC_000011.10:g.119678648G>A	gnomAD
NCI-TCGA novel	p.Gln68Ter	stop gained	-	NC_000011.10:g.119678643G>A	NCI-TCGA
rs779628582	p.Ser70Phe	missense variant	-	NC_000011.10:g.119678636G>A	ExAC,TOPMed,gnomAD
rs1394521491	p.Gly73Ser	missense variant	-	NC_000011.10:g.119678628C>T	gnomAD
rs757777524	p.Lys75Arg	missense variant	-	NC_000011.10:g.119678621T>C	ExAC,gnomAD
rs778591472	p.Gln76Glu	missense variant	-	NC_000011.10:g.119678619G>C	ExAC,TOPMed,gnomAD
rs374378792	p.Gln76His	missense variant	-	NC_000011.10:g.119678617C>A	ESP,ExAC,gnomAD
rs763840300	p.Val78Met	missense variant	-	NC_000011.10:g.119678613C>T	ExAC,TOPMed,gnomAD
rs1181093702	p.Ile80Thr	missense variant	-	NC_000011.10:g.119678606A>G	gnomAD
rs752522011	p.Asn82Lys	missense variant	-	NC_000011.10:g.119678599G>C	ExAC,gnomAD
rs962696151	p.Asn82Ser	missense variant	-	NC_000011.10:g.119678600T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Met85Thr	missense variant	-	NC_000011.10:g.119678591A>G	NCI-TCGA
rs141573833	p.Val87Leu	missense variant	-	NC_000011.10:g.119678586C>A	ESP,TOPMed,gnomAD
rs141573833	p.Val87Met	missense variant	-	NC_000011.10:g.119678586C>T	ESP,TOPMed,gnomAD
rs750518156	p.Val89Met	missense variant	-	NC_000011.10:g.119678580C>T	ExAC,TOPMed,gnomAD
rs1289073992	p.Ala91Val	missense variant	-	NC_000011.10:g.119678573G>A	gnomAD
rs1306078528	p.Tyr93Cys	missense variant	-	NC_000011.10:g.119678567T>C	TOPMed
rs1409224995	p.Arg94Cys	missense variant	-	NC_000011.10:g.119678565G>A	gnomAD
rs370390168	p.Arg94His	missense variant	-	NC_000011.10:g.119678564C>T	ESP,ExAC,TOPMed,gnomAD
rs370390168	p.Arg94Leu	missense variant	-	NC_000011.10:g.119678564C>A	ESP,ExAC,TOPMed,gnomAD
rs745849418	p.Glu95Lys	missense variant	-	NC_000011.10:g.119678562C>T	ExAC,TOPMed,gnomAD
rs761246972	p.Arg96Cys	missense variant	-	NC_000011.10:g.119678559G>A	ExAC,gnomAD
rs373047519	p.Arg96His	missense variant	-	NC_000011.10:g.119678558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772616532	p.Val97Met	missense variant	-	NC_000011.10:g.119678556C>T	ExAC,TOPMed
rs1458745574	p.Leu100Pro	missense variant	-	NC_000011.10:g.119678546A>G	gnomAD
rs778904871	p.Arg101Trp	missense variant	-	NC_000011.10:g.119678544G>A	ExAC,TOPMed,gnomAD
rs200181526	p.Arg101Gln	missense variant	-	NC_000011.10:g.119678543C>T	ExAC,TOPMed,gnomAD
rs1477034078	p.Pro102Leu	missense variant	-	NC_000011.10:g.119678540G>A	gnomAD
rs770605139	p.Pro102Ser	missense variant	-	NC_000011.10:g.119678541G>A	ExAC,TOPMed,gnomAD
rs748894133	p.Thr105Ser	missense variant	-	NC_000011.10:g.119678531G>C	ExAC,gnomAD
rs755800836	p.Asp106Asn	missense variant	-	NC_000011.10:g.119678529C>T	ExAC,TOPMed,gnomAD
COSM1585440	p.Asp106Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678528T>A	NCI-TCGA Cosmic
rs370234311	p.Thr108Ala	missense variant	-	NC_000011.10:g.119678523T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile109Met	missense variant	-	NC_000011.10:g.119678518G>C	NCI-TCGA
rs754922587	p.Arg110Cys	missense variant	-	NC_000011.10:g.119678517G>A	ExAC,TOPMed,gnomAD
rs754922587	p.Arg110Gly	missense variant	-	NC_000011.10:g.119678517G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg110Pro	missense variant	-	NC_000011.10:g.119678516C>G	NCI-TCGA
rs750571284	p.Arg110Leu	missense variant	-	NC_000011.10:g.119678516C>A	ExAC,gnomAD
rs750571284	p.Arg110His	missense variant	-	NC_000011.10:g.119678516C>T	ExAC,gnomAD
rs765359773	p.Leu111Val	missense variant	-	NC_000011.10:g.119678514G>C	ExAC,gnomAD
rs547031791	p.Ser112Thr	missense variant	-	NC_000011.10:g.119678511A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754046295	p.Arg113Cys	missense variant	-	NC_000011.10:g.119678508G>A	ExAC,TOPMed,gnomAD
rs764371211	p.Arg113His	missense variant	-	NC_000011.10:g.119678507C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu115Asp	missense variant	-	NC_000011.10:g.119678500C>A	NCI-TCGA
rs1172940047	p.Glu115Gln	missense variant	-	NC_000011.10:g.119678502C>G	TOPMed
rs1400143140	p.Leu116Val	missense variant	-	NC_000011.10:g.119678499G>C	TOPMed
NCI-TCGA novel	p.Glu119Ter	stop gained	-	NC_000011.10:g.119678490C>A	NCI-TCGA
rs942435649	p.Glu119Gln	missense variant	-	NC_000011.10:g.119678490C>G	TOPMed,gnomAD
COSM1585442	p.Gly120Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678487C>A	NCI-TCGA Cosmic
rs1389313822	p.Gly120Asp	missense variant	-	NC_000011.10:g.119678486C>T	gnomAD
rs1286852226	p.Ile123Leu	missense variant	-	NC_000011.10:g.119678478T>G	TOPMed,gnomAD
rs146919951	p.Glu125Asp	missense variant	-	NC_000011.10:g.119678470C>G	ESP,ExAC,TOPMed,gnomAD
rs1163551430	p.Glu125Lys	missense variant	-	NC_000011.10:g.119678472C>T	gnomAD
rs773877827	p.Phe126Cys	missense variant	-	NC_000011.10:g.119678468A>C	ExAC,TOPMed,gnomAD
rs1182156868	p.Ala127Thr	missense variant	-	NC_000011.10:g.119678466C>T	gnomAD
rs377427305	p.Thr131Met	missense variant	-	NC_000011.10:g.119678453G>A	ESP,ExAC,TOPMed,gnomAD
rs377427305	p.Thr131Lys	missense variant	-	NC_000011.10:g.119678453G>T	ESP,ExAC,TOPMed,gnomAD
rs199962982	p.Thr131Ala	missense variant	-	NC_000011.10:g.119678454T>C	1000Genomes,gnomAD
COSM3444214	p.Gly132Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678450C>T	NCI-TCGA Cosmic
rs769476648	p.Arg134Ter	stop gained	-	NC_000011.10:g.119678445G>A	ExAC,gnomAD
rs766374992	p.Arg134Gln	missense variant	-	NC_000011.10:g.119678444C>T	ExAC,TOPMed,gnomAD
rs781010097	p.Ser136Thr	missense variant	-	NC_000011.10:g.119678438C>G	ExAC,gnomAD
rs754894048	p.Leu138Phe	missense variant	-	NC_000011.10:g.119678433G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu140Ile	missense variant	-	NC_000011.10:g.119678427G>T	NCI-TCGA
rs757477808	p.Thr141Met	missense variant	-	NC_000011.10:g.119678423G>A	ExAC,TOPMed,gnomAD
rs757477808	p.Thr141Arg	missense variant	-	NC_000011.10:g.119678423G>C	ExAC,TOPMed,gnomAD
rs371142221	p.Met143Ile	missense variant	-	NC_000011.10:g.119678416C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374562515	p.Ala144Thr	missense variant	-	NC_000011.10:g.119678415C>T	ESP,ExAC,TOPMed,gnomAD
rs1208499285	p.Asn148Ser	missense variant	-	NC_000011.10:g.119677845T>C	gnomAD
rs1229255733	p.Glu151Asp	missense variant	-	NC_000011.10:g.119677835C>A	TOPMed
rs1442295865	p.Gly152Asp	missense variant	-	NC_000011.10:g.119677833C>T	gnomAD
rs766922259	p.Gly152Ser	missense variant	-	NC_000011.10:g.119677834C>T	ExAC,gnomAD
rs766922259	p.Gly152Cys	missense variant	-	NC_000011.10:g.119677834C>A	ExAC,gnomAD
rs371651972	p.Thr153Ala	missense variant	-	NC_000011.10:g.119677831T>C	ESP,ExAC,TOPMed,gnomAD
COSM5999640	p.Thr153Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677830G>A	NCI-TCGA Cosmic
rs1266843377	p.Thr153Asn	missense variant	-	NC_000011.10:g.119677830G>T	gnomAD
NCI-TCGA novel	p.Arg158Ter	stop gained	-	NC_000011.10:g.119677816G>A	NCI-TCGA
rs776409528	p.Arg158Pro	missense variant	-	NC_000011.10:g.119677815C>G	ExAC,gnomAD
rs776409528	p.Arg158Gln	missense variant	-	NC_000011.10:g.119677815C>T	ExAC,gnomAD
rs1202226205	p.Ala159Asp	missense variant	-	NC_000011.10:g.119677812G>T	gnomAD
rs145986556	p.Lys160Asn	missense variant	-	NC_000011.10:g.119677808C>G	ESP,ExAC,TOPMed,gnomAD
rs775391587	p.Lys161Asn	missense variant	-	NC_000011.10:g.119677805C>G	ExAC,gnomAD
COSM6131605	p.Gly162Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677803C>A	NCI-TCGA Cosmic
rs772163780	p.Gly162Glu	missense variant	-	NC_000011.10:g.119677803C>T	ExAC,TOPMed,gnomAD
rs745766165	p.Asp165Glu	missense variant	-	NC_000011.10:g.119677793G>T	ExAC,gnomAD
rs993819055	p.Lys166Gln	missense variant	-	NC_000011.10:g.119677792T>G	TOPMed,gnomAD
rs781538708	p.Thr171Ile	missense variant	-	NC_000011.10:g.119677776G>A	ExAC,TOPMed,gnomAD
COSM1133345	p.Ser174Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677767G>A	NCI-TCGA Cosmic
rs1440512634	p.Ala175Thr	missense variant	-	NC_000011.10:g.119677765C>T	gnomAD
rs367791177	p.Asn176Ser	missense variant	-	NC_000011.10:g.119677761T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser181Ile	missense variant	-	NC_000011.10:g.119677746C>A	NCI-TCGA
RCV000009532	p.Trp185Ter	nonsense	Orofacial cleft 7 (OFC7)	NC_000011.10:g.119677734C>T	ClinVar
RCV000009531	p.Trp185Ter	nonsense	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119677734C>T	ClinVar
rs104894281	p.Trp185Ter	stop gained	Cleft lip/palate-ectodermal dysplasia syndrome (clped1)	NC_000011.10:g.119677734C>T	-
RCV000009533	p.Glu186Ter	frameshift	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119677734del	ClinVar
rs1161494369	p.Thr187Ile	missense variant	-	NC_000011.10:g.119677728G>A	gnomAD
rs780356520	p.Thr187Ala	missense variant	-	NC_000011.10:g.119677729T>C	ExAC,gnomAD
rs150389387	p.Arg188Gln	missense variant	-	NC_000011.10:g.119677725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375316129	p.Arg188Gly	missense variant	-	NC_000011.10:g.119677726G>C	ESP,ExAC,TOPMed,gnomAD
rs375316129	p.Arg188Trp	missense variant	-	NC_000011.10:g.119677726G>A	ESP,ExAC,TOPMed,gnomAD
rs1003809317	p.Gly191Val	missense variant	-	NC_000011.10:g.119677716C>A	TOPMed
rs1003809317	p.Gly191Asp	missense variant	-	NC_000011.10:g.119677716C>T	TOPMed
rs925998059	p.Ala193Thr	missense variant	-	NC_000011.10:g.119677711C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln196Ter	stop gained	-	NC_000011.10:g.119677702G>A	NCI-TCGA
rs1283881042	p.Gln196Lys	missense variant	-	NC_000011.10:g.119677702G>T	TOPMed
COSM1585443	p.Glu197Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677698T>C	NCI-TCGA Cosmic
rs775444391	p.Glu197Gln	missense variant	-	NC_000011.10:g.119677699C>G	ExAC,gnomAD
rs575394550	p.Glu197Asp	missense variant	-	NC_000011.10:g.119677697C>A	1000Genomes,ExAC,gnomAD
rs759400227	p.Ile198Thr	missense variant	-	NC_000011.10:g.119677695A>G	ExAC,gnomAD
rs78809001	p.Arg199Gln	missense variant	-	NC_000011.10:g.119677692C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372177799	p.Arg199Trp	missense variant	-	NC_000011.10:g.119677693G>A	ESP,ExAC,TOPMed,gnomAD
rs368738833	p.Asn200Asp	missense variant	-	NC_000011.10:g.119677690T>C	ESP,ExAC,TOPMed,gnomAD
rs1342002768	p.Asn202Asp	missense variant	-	NC_000011.10:g.119677684T>C	TOPMed
rs143539245	p.Asn202Ser	missense variant	-	NC_000011.10:g.119677683T>C	ESP,ExAC,TOPMed,gnomAD
rs140089588	p.Thr206Met	missense variant	-	NC_000011.10:g.119677671G>A	ESP,ExAC,TOPMed,gnomAD
rs1428698740	p.Val207Phe	missense variant	-	NC_000011.10:g.119677669C>A	gnomAD
rs1363291418	p.Ile208Asn	missense variant	-	NC_000011.10:g.119677665A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser209Thr	missense variant	-	NC_000011.10:g.119677662C>G	NCI-TCGA
rs142863092	p.Arg210His	missense variant	-	NC_000011.10:g.119677659C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780401118	p.Arg210Cys	missense variant	-	NC_000011.10:g.119677660G>A	ExAC,TOPMed,gnomAD
rs142863092	p.Arg210Leu	missense variant	-	NC_000011.10:g.119677659C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs578209664	p.Arg212Cys	missense variant	-	NC_000011.10:g.119677654G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs142930935	p.Arg212Leu	missense variant	-	NC_000011.10:g.119677653C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142930935	p.Arg212His	missense variant	-	NC_000011.10:g.119677653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763644643	p.Ser216Gly	missense variant	-	NC_000011.10:g.119677642T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg217Met	missense variant	-	NC_000011.10:g.119677638C>A	NCI-TCGA
rs1485290152	p.Arg217Thr	missense variant	-	NC_000011.10:g.119677638C>G	gnomAD
rs1223057587	p.Glu218Ala	missense variant	-	NC_000011.10:g.119677635T>G	gnomAD
rs760413547	p.Glu218Lys	missense variant	-	NC_000011.10:g.119677636C>T	ExAC,gnomAD
rs1258740865	p.Ala219Ser	missense variant	-	NC_000011.10:g.119677633C>A	TOPMed,gnomAD
rs752333781	p.Gln222Lys	missense variant	-	NC_000011.10:g.119677624G>T	ExAC,gnomAD
rs767278317	p.Ser223Phe	missense variant	-	NC_000011.10:g.119677620G>A	ExAC,TOPMed,gnomAD
rs1213633475	p.Ser223Ala	missense variant	-	NC_000011.10:g.119677621A>C	gnomAD
rs1430537138	p.Leu224Phe	missense variant	-	NC_000011.10:g.119677616C>A	TOPMed
rs759436378	p.Ala225Ser	missense variant	-	NC_000011.10:g.119677615C>A	ExAC,TOPMed,gnomAD
rs144781194	p.Ile227Met	missense variant	-	NC_000011.10:g.119677607G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200513188	p.Val228Leu	missense variant	-	NC_000011.10:g.119677606C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200513188	p.Val228Ile	missense variant	-	NC_000011.10:g.119677606C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200513188	p.Val228Phe	missense variant	-	NC_000011.10:g.119677606C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762761527	p.Tyr230Cys	missense variant	-	NC_000011.10:g.119677599T>C	ExAC,gnomAD
rs776714103	p.Met232Thr	missense variant	-	NC_000011.10:g.119677593A>G	ExAC,gnomAD
rs768666517	p.Asp233Gly	missense variant	-	NC_000011.10:g.119677590T>C	ExAC,gnomAD
rs1163138049	p.Asp233Glu	missense variant	-	NC_000011.10:g.119677589G>C	gnomAD
rs747086699	p.Arg234Cys	missense variant	-	NC_000011.10:g.119677588G>A	ExAC,TOPMed,gnomAD
rs747086699	p.Arg234Gly	missense variant	-	NC_000011.10:g.119677588G>C	ExAC,TOPMed,gnomAD
rs772160830	p.Arg234His	missense variant	-	NC_000011.10:g.119677587C>T	ExAC,TOPMed,gnomAD
rs772160830	p.Arg234Leu	missense variant	-	NC_000011.10:g.119677587C>A	ExAC,TOPMed,gnomAD
rs1189212659	p.Leu241Phe	missense variant	-	NC_000011.10:g.119677567G>A	gnomAD
rs149433037	p.Asn242Lys	missense variant	-	NC_000011.10:g.119677562G>C	ESP,ExAC,TOPMed,gnomAD
rs779104764	p.Val243Met	missense variant	-	NC_000011.10:g.119677561C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val243Leu	missense variant	-	NC_000011.10:g.119677561C>G	NCI-TCGA
rs757802399	p.Gln244His	missense variant	-	NC_000011.10:g.119677556C>G	ExAC,gnomAD
rs909876037	p.Gln244Arg	missense variant	-	NC_000011.10:g.119677557T>C	TOPMed,gnomAD
rs909876037	p.Gln244Pro	missense variant	-	NC_000011.10:g.119677557T>G	TOPMed,gnomAD
rs1297056150	p.Thr250Ile	missense variant	-	NC_000011.10:g.119677204G>A	gnomAD
rs780528970	p.Ile251Thr	missense variant	-	NC_000011.10:g.119677201A>G	ExAC,gnomAD
rs1423496003	p.Glu252Gln	missense variant	-	NC_000011.10:g.119677199C>G	TOPMed
rs751116909	p.Gly253Glu	missense variant	-	NC_000011.10:g.119677195C>T	ExAC,gnomAD
rs999824639	p.Phe254Ser	missense variant	-	NC_000011.10:g.119677192A>G	TOPMed
rs999824639	p.Phe254Tyr	missense variant	-	NC_000011.10:g.119677192A>T	TOPMed
rs758246210	p.Arg262Gln	missense variant	-	NC_000011.10:g.119677168C>T	ExAC,TOPMed,gnomAD
rs766201739	p.Arg262Trp	missense variant	-	NC_000011.10:g.119677169G>A	ExAC,gnomAD
rs1369378629	p.Met263Val	missense variant	-	NC_000011.10:g.119677166T>C	TOPMed
rs1394055905	p.Asp264Asn	missense variant	-	NC_000011.10:g.119677163C>T	TOPMed,gnomAD
rs531328269	p.Asp264Glu	missense variant	-	NC_000011.10:g.119677161G>T	1000Genomes,ExAC,gnomAD
rs140974611	p.Val265Leu	missense variant	-	NC_000011.10:g.119677160C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140974611	p.Val265Met	missense variant	-	NC_000011.10:g.119677160C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1428445812	p.Lys266Arg	missense variant	-	NC_000011.10:g.119677156T>C	gnomAD
rs775565748	p.Thr268Ala	missense variant	-	NC_000011.10:g.119677151T>C	ExAC,gnomAD
rs767434565	p.Asp272Ala	missense variant	-	NC_000011.10:g.119677138T>G	ExAC,gnomAD
rs1364055926	p.Ala273Gly	missense variant	-	NC_000011.10:g.119677135G>C	gnomAD
rs759806079	p.Asn274Thr	missense variant	-	NC_000011.10:g.119677132T>G	ExAC,gnomAD
rs1310228081	p.Asn274Lys	missense variant	-	NC_000011.10:g.119677131G>T	TOPMed
rs1248851345	p.Pro276Gln	missense variant	-	NC_000011.10:g.119677126G>T	gnomAD
COSM1351893	p.Pro276GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119677126G>-	NCI-TCGA Cosmic
COSM4018566	p.Ala277Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677123G>A	NCI-TCGA Cosmic
rs191178069	p.Glu279Lys	missense variant	-	NC_000011.10:g.119677118C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1246612566	p.His281Gln	missense variant	-	NC_000011.10:g.119677110G>C	TOPMed
rs773684377	p.Thr283Asn	missense variant	-	NC_000011.10:g.119677105G>T	ExAC,gnomAD
rs1007995551	p.Thr283Ala	missense variant	-	NC_000011.10:g.119677106T>C	TOPMed,gnomAD
rs373403317	p.Thr284Met	missense variant	-	NC_000011.10:g.119677102G>A	ESP,ExAC,TOPMed,gnomAD
rs771733439	p.Asn286Lys	missense variant	-	NC_000011.10:g.119675304A>C	ExAC,TOPMed
NCI-TCGA novel	p.Leu289Phe	missense variant	-	NC_000011.10:g.119675297G>A	NCI-TCGA
rs529558141	p.Lys291Arg	missense variant	-	NC_000011.10:g.119675290T>C	1000Genomes,ExAC,gnomAD
rs778679413	p.Lys291Glu	missense variant	-	NC_000011.10:g.119675291T>C	ExAC,gnomAD
rs372910894	p.Gly292Asp	missense variant	-	NC_000011.10:g.119675287C>T	ESP,ExAC,TOPMed,gnomAD
rs372910894	p.Gly292Val	missense variant	-	NC_000011.10:g.119675287C>A	ESP,ExAC,TOPMed,gnomAD
rs1476682909	p.Ala295Val	missense variant	-	NC_000011.10:g.119675278G>A	gnomAD
NCI-TCGA novel	p.Gln296His	missense variant	-	NC_000011.10:g.119675274C>G	NCI-TCGA
rs751626384	p.Asn297Lys	missense variant	-	NC_000011.10:g.119675271G>C	ExAC,gnomAD
rs766521154	p.Arg298Gly	missense variant	-	NC_000011.10:g.119675270T>C	ExAC,gnomAD
COSM1146595	p.Leu300Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119675264G>A	NCI-TCGA Cosmic
rs1223483781	p.Lys303Arg	missense variant	-	NC_000011.10:g.119675254T>C	gnomAD
rs564530033	p.Gly304Arg	missense variant	-	NC_000011.10:g.119675252C>T	gnomAD
rs147357554	p.Ile306Thr	missense variant	-	NC_000011.10:g.119675245A>G	ESP,ExAC,TOPMed
rs147357554	p.Ile306Asn	missense variant	-	NC_000011.10:g.119675245A>T	ESP,ExAC,TOPMed
rs765552807	p.Asn307Lys	missense variant	-	NC_000011.10:g.119675241G>C	ExAC,TOPMed,gnomAD
rs1289324780	p.Asn307Ser	missense variant	-	NC_000011.10:g.119675242T>C	gnomAD
rs762132456	p.Ser309Arg	missense variant	-	NC_000011.10:g.119675235G>C	ExAC,TOPMed,gnomAD
rs1184460783	p.Gly312Glu	missense variant	-	NC_000011.10:g.119675227C>T	TOPMed
rs199876504	p.Ile315Val	missense variant	-	NC_000011.10:g.119675219T>C	ExAC,gnomAD
rs1303457029	p.Pro321Ala	missense variant	-	NC_000011.10:g.119675201G>C	gnomAD
rs1303457029	p.Pro321Thr	missense variant	-	NC_000011.10:g.119675201G>T	gnomAD
rs774045034	p.Ile322Met	missense variant	-	NC_000011.10:g.119675196G>C	ExAC,TOPMed,gnomAD
rs1363267011	p.Ile322Leu	missense variant	-	NC_000011.10:g.119675198T>G	gnomAD
NCI-TCGA novel	p.Gly323Arg	missense variant	-	NC_000011.10:g.119675195C>G	NCI-TCGA
rs930877255	p.Gly323Ser	missense variant	-	NC_000011.10:g.119675195C>T	TOPMed,gnomAD
RCV000009534	p.Thr324Ter	frameshift	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119675193dup	ClinVar
rs1420902099	p.Thr324Ile	missense variant	-	NC_000011.10:g.119675191G>A	gnomAD
rs185201594	p.Arg325Cys	missense variant	-	NC_000011.10:g.119675189G>A	1000Genomes,ExAC,gnomAD
rs777589516	p.Arg325His	missense variant	-	NC_000011.10:g.119675188C>T	ExAC,TOPMed,gnomAD
rs756032071	p.Gly327Ser	missense variant	-	NC_000011.10:g.119675183C>T	ExAC,gnomAD
COSM3444202	p.Gln328Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119675180G>A	NCI-TCGA Cosmic
rs1389408862	p.Gln328Lys	missense variant	-	NC_000011.10:g.119675180G>T	TOPMed
rs150553818	p.Glu330Lys	missense variant	-	NC_000011.10:g.119675174C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000515092	p.Glu330Lys	missense variant	-	NC_000011.10:g.119675174C>T	ClinVar
rs780285405	p.Glu335Ter	stop gained	-	NC_000011.10:g.119675159C>A	ExAC,gnomAD
rs753093645	p.Phe336Leu	missense variant	-	NC_000011.10:g.119665295A>G	ExAC,TOPMed,gnomAD
rs1371157035	p.Thr339Ile	missense variant	-	NC_000011.10:g.119665285G>A	TOPMed,gnomAD
rs375956459	p.Pro340Leu	missense variant	-	NC_000011.10:g.119665282G>A	ESP,ExAC,TOPMed,gnomAD
rs375956459	p.Pro340Gln	missense variant	-	NC_000011.10:g.119665282G>T	ESP,ExAC,TOPMed,gnomAD
COSM686875	p.Ser341Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119665279G>A	NCI-TCGA Cosmic
rs762583153	p.Pro342Ser	missense variant	-	NC_000011.10:g.119665277G>A	ExAC,TOPMed,gnomAD
rs764971983	p.Pro343Arg	missense variant	-	NC_000011.10:g.119665273G>C	ExAC,gnomAD
rs141682403	p.Glu344Lys	missense variant	-	NC_000011.10:g.119665271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1320478790	p.His345Asp	missense variant	-	NC_000011.10:g.119665268G>C	gnomAD
rs1031773395	p.His345Arg	missense variant	-	NC_000011.10:g.119665267T>C	TOPMed,gnomAD
NCI-TCGA novel	p.His345Asn	missense variant	-	NC_000011.10:g.119665268G>T	NCI-TCGA
NCI-TCGA novel	p.Gly346Trp	missense variant	-	NC_000011.10:g.119665265C>A	NCI-TCGA
rs201959047	p.Arg347Trp	missense variant	-	NC_000011.10:g.119665262G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775551936	p.Arg347Gln	missense variant	-	NC_000011.10:g.119665261C>T	ExAC,TOPMed,gnomAD
rs148045547	p.Arg348His	missense variant	-	NC_000011.10:g.119665258C>T	ESP,ExAC,TOPMed,gnomAD
rs771878829	p.Arg348Cys	missense variant	-	NC_000011.10:g.119665259G>A	ExAC,gnomAD
rs771878829	p.Arg348Gly	missense variant	-	NC_000011.10:g.119665259G>C	ExAC,gnomAD
rs573905161	p.Ala349Val	missense variant	-	NC_000011.10:g.119665255G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1422472639	p.Ala349Thr	missense variant	-	NC_000011.10:g.119665256C>T	TOPMed,gnomAD
rs573905161	p.Ala349Gly	missense variant	-	NC_000011.10:g.119665255G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly350Trp	missense variant	-	NC_000011.10:g.119665253C>A	NCI-TCGA
rs755314137	p.Gly350Arg	missense variant	-	NC_000011.10:g.119665253C>T	gnomAD
rs748315490	p.Pro351Gln	missense variant	-	NC_000011.10:g.119665249G>T	ExAC,gnomAD
rs748315490	p.Pro351Arg	missense variant	-	NC_000011.10:g.119665249G>C	ExAC,gnomAD
rs748315490	p.Pro351Leu	missense variant	-	NC_000011.10:g.119665249G>A	ExAC,gnomAD
rs368903682	p.Thr354Ser	missense variant	-	NC_000011.10:g.119665241T>A	ESP,ExAC,TOPMed,gnomAD
rs755401864	p.Thr354Met	missense variant	-	NC_000011.10:g.119665240G>A	ExAC,TOPMed,gnomAD
rs1049886554	p.Ala355Ser	missense variant	-	NC_000011.10:g.119665238C>A	TOPMed,gnomAD
rs143530262	p.Ile357Thr	missense variant	-	NC_000011.10:g.119665231A>G	ExAC,TOPMed,gnomAD
rs1186900270	p.Gly359Ser	missense variant	-	NC_000011.10:g.119665226C>T	gnomAD
rs758801522	p.Val360Leu	missense variant	-	NC_000011.10:g.119665223C>G	ExAC,TOPMed,gnomAD
rs758801522	p.Val360Met	missense variant	-	NC_000011.10:g.119665223C>T	ExAC,TOPMed,gnomAD
rs375945097	p.Ala361Val	missense variant	-	NC_000011.10:g.119665219G>A	ESP,ExAC,TOPMed,gnomAD
rs140410989	p.Ala361Thr	missense variant	-	NC_000011.10:g.119665220C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ser363Arg	missense variant	-	NC_000011.10:g.119665212G>C	NCI-TCGA
rs761560894	p.Ser363Gly	missense variant	-	NC_000011.10:g.119665214T>C	ExAC,gnomAD
rs763820994	p.Val367Met	missense variant	-	NC_000011.10:g.119665202C>T	ExAC,gnomAD
rs760591595	p.Ile369Thr	missense variant	-	NC_000011.10:g.119665195A>G	ExAC,gnomAD
rs775114352	p.Val370Met	missense variant	-	NC_000011.10:g.119665193C>T	ExAC,gnomAD
rs759345182	p.Gly372Ser	missense variant	-	NC_000011.10:g.119665187C>T	ExAC,TOPMed,gnomAD
rs1246387414	p.Gly372Ala	missense variant	-	NC_000011.10:g.119665186C>G	TOPMed
rs769801756	p.Gly373Arg	missense variant	-	NC_000011.10:g.119665184C>T	ExAC,gnomAD
rs145005973	p.Val375Leu	missense variant	-	NC_000011.10:g.119665178C>A	ESP,ExAC,TOPMed,gnomAD
rs145005973	p.Val375Met	missense variant	-	NC_000011.10:g.119665178C>T	ESP,ExAC,TOPMed,gnomAD
rs776896515	p.Val376Leu	missense variant	-	NC_000011.10:g.119665175C>G	ExAC,TOPMed,gnomAD
rs768844647	p.Ala377Thr	missense variant	-	NC_000011.10:g.119665172C>T	ExAC,TOPMed,gnomAD
rs369649445	p.Ala377Gly	missense variant	-	NC_000011.10:g.119665171G>C	ESP,ExAC,TOPMed,gnomAD
rs768844647	p.Ala377Ser	missense variant	-	NC_000011.10:g.119665172C>A	ExAC,TOPMed,gnomAD
rs780243076	p.Arg379His	missense variant	-	NC_000011.10:g.119665165C>T	ExAC,TOPMed,gnomAD
rs1324345974	p.Arg379Cys	missense variant	-	NC_000011.10:g.119665166G>A	TOPMed,gnomAD
rs1337699458	p.Arg380Gln	missense variant	-	NC_000011.10:g.119665162C>T	TOPMed,gnomAD
rs376335229	p.Arg380Gly	missense variant	-	NC_000011.10:g.119665163G>C	ESP,ExAC,TOPMed,gnomAD
rs376335229	p.Arg380Trp	missense variant	-	NC_000011.10:g.119665163G>A	ESP,ExAC,TOPMed,gnomAD
rs779558534	p.Arg381Leu	missense variant	-	NC_000011.10:g.119665159C>A	ExAC,gnomAD
rs746292708	p.Arg381Cys	missense variant	-	NC_000011.10:g.119665160G>A	ExAC,TOPMed,gnomAD
rs779558534	p.Arg381His	missense variant	-	NC_000011.10:g.119665159C>T	ExAC,gnomAD
rs371158952	p.Arg382Gln	missense variant	-	NC_000011.10:g.119665156C>T	ExAC,TOPMed,gnomAD
rs753373250	p.Arg382Gly	missense variant	-	NC_000011.10:g.119665157G>C	ExAC,TOPMed,gnomAD
rs753373250	p.Arg382Trp	missense variant	-	NC_000011.10:g.119665157G>A	ExAC,TOPMed,gnomAD
rs1215797709	p.Thr384Ile	missense variant	-	NC_000011.10:g.119665150G>A	TOPMed
rs1225640386	p.Lys386Thr	missense variant	-	NC_000011.10:g.119665144T>G	TOPMed,gnomAD
rs759526300	p.Lys386Gln	missense variant	-	NC_000011.10:g.119665145T>G	ExAC,gnomAD
rs774224721	p.Gly387Asp	missense variant	-	NC_000011.10:g.119665141C>T	ExAC,gnomAD
rs766290195	p.Thr391Asn	missense variant	-	NC_000011.10:g.119665129G>T	ExAC,gnomAD
rs1206107546	p.Lys392Gln	missense variant	-	NC_000011.10:g.119665127T>G	gnomAD
NCI-TCGA novel	p.His394Arg	missense variant	-	NC_000011.10:g.119665120T>C	NCI-TCGA
rs141253617	p.Val395Met	missense variant	-	NC_000011.10:g.119665118C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261500651	p.Gly399Ser	missense variant	-	NC_000011.10:g.119665106C>T	gnomAD
rs775926077	p.Gly399Ala	missense variant	-	NC_000011.10:g.119665105C>G	ExAC,TOPMed,gnomAD
rs1317159942	p.Pro406Ser	missense variant	-	NC_000011.10:g.119665085G>A	gnomAD
NCI-TCGA novel	p.Gln407SerPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.119665082G>-	NCI-TCGA
rs746230243	p.Gln407His	missense variant	-	NC_000011.10:g.119665080C>G	ExAC,TOPMed,gnomAD
rs1166706388	p.His408Leu	missense variant	-	NC_000011.10:g.119665078T>A	TOPMed
NCI-TCGA novel	p.His409Arg	missense variant	-	NC_000011.10:g.119665075T>C	NCI-TCGA
rs368140971	p.His409Gln	missense variant	-	NC_000011.10:g.119665074G>C	ESP,ExAC,TOPMed,gnomAD
rs1464967533	p.Met412Val	missense variant	-	NC_000011.10:g.119665067T>C	TOPMed
NCI-TCGA novel	p.Asn415Ile	missense variant	-	NC_000011.10:g.119665057T>A	NCI-TCGA
rs748837701	p.Leu416Val	missense variant	-	NC_000011.10:g.119665055G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln417Arg	missense variant	-	NC_000011.10:g.119665051T>C	NCI-TCGA
NCI-TCGA novel	p.Pro419Leu	missense variant	-	NC_000011.10:g.119665045G>A	NCI-TCGA
rs955888310	p.Pro419Ser	missense variant	-	NC_000011.10:g.119665046G>A	TOPMed
rs758988270	p.Asp420Glu	missense variant	-	NC_000011.10:g.119665041G>C	ExAC,TOPMed,gnomAD
rs755806347	p.Asp420Asn	missense variant	-	NC_000011.10:g.119665043C>T	ExAC,gnomAD
rs754787860	p.Asp421Asn	missense variant	-	NC_000011.10:g.119665040C>T	ExAC,gnomAD
rs751351358	p.Asp423Glu	missense variant	-	NC_000011.10:g.119665032G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp423Gly	missense variant	-	NC_000011.10:g.119665033T>C	NCI-TCGA
rs751351358	p.Asp423Glu	missense variant	-	NC_000011.10:g.119665032G>C	ExAC,gnomAD
rs766347296	p.Asp424Asn	missense variant	-	NC_000011.10:g.119665031C>T	ExAC,gnomAD
rs766347296	p.Asp424His	missense variant	-	NC_000011.10:g.119665031C>G	ExAC,gnomAD
rs753939503	p.Glu425Lys	missense variant	-	NC_000011.10:g.119665028C>T	ExAC,TOPMed,gnomAD
rs925747493	p.Ala428Ser	missense variant	-	NC_000011.10:g.119665019C>A	TOPMed,gnomAD
rs1197081462	p.Gly429Ser	missense variant	-	NC_000011.10:g.119665016C>T	TOPMed
rs764091726	p.Gly432Asp	missense variant	-	NC_000011.10:g.119665006C>T	ExAC,gnomAD
rs1351701613	p.Gly432Ser	missense variant	-	NC_000011.10:g.119665007C>T	gnomAD
rs1195665241	p.Tyr436Asp	missense variant	-	NC_000011.10:g.119664995A>C	gnomAD
rs775628224	p.Tyr436Ter	stop gained	-	NC_000011.10:g.119664993A>C	ExAC,gnomAD
rs760800557	p.Tyr436Phe	missense variant	-	NC_000011.10:g.119664994T>A	ExAC,TOPMed,gnomAD
rs760800557	p.Tyr436Cys	missense variant	-	NC_000011.10:g.119664994T>C	ExAC,TOPMed,gnomAD
rs953788367	p.Glu437Lys	missense variant	-	NC_000011.10:g.119664992C>T	TOPMed
NCI-TCGA novel	p.Glu437Lys	insertion	-	NC_000011.10:g.119664989_119664990insCTT	NCI-TCGA
COSM3808570	p.Glu441Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119664978C>A	NCI-TCGA Cosmic
rs1317281415	p.Glu443Lys	missense variant	-	NC_000011.10:g.119664974C>T	gnomAD
NCI-TCGA novel	p.Glu444Asp	missense variant	-	NC_000011.10:g.119664969C>A	NCI-TCGA
rs774814738	p.Glu444Lys	missense variant	-	NC_000011.10:g.119664971C>T	ExAC,gnomAD
rs1366987801	p.Glu444Gly	missense variant	-	NC_000011.10:g.119664970T>C	gnomAD
rs1410411832	p.Gly445Val	missense variant	-	NC_000011.10:g.119664967C>A	TOPMed
rs539461545	p.Gly445Ser	missense variant	-	NC_000011.10:g.119664968C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1373709791	p.Gly446Ser	missense variant	-	NC_000011.10:g.119664965C>T	TOPMed
NCI-TCGA novel	p.Gly447Val	missense variant	-	NC_000011.10:g.119664961C>A	NCI-TCGA
rs1161967717	p.Gly448Glu	missense variant	-	NC_000011.10:g.119664958C>T	gnomAD
rs1028240170	p.Gly449Val	missense variant	-	NC_000011.10:g.119664955C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu450Gln	missense variant	-	NC_000011.10:g.119664953C>G	NCI-TCGA
rs769256224	p.Glu450Lys	missense variant	-	NC_000011.10:g.119664953C>T	ExAC,gnomAD
rs1225561970	p.Arg451Cys	missense variant	-	NC_000011.10:g.119664950G>A	TOPMed
rs747681440	p.Arg451Pro	missense variant	-	NC_000011.10:g.119664949C>G	ExAC,TOPMed,gnomAD
rs747681440	p.Arg451His	missense variant	-	NC_000011.10:g.119664949C>T	ExAC,TOPMed,gnomAD
rs747681440	p.Arg451Leu	missense variant	-	NC_000011.10:g.119664949C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly454Asp	missense variant	-	NC_000011.10:g.119664940C>T	NCI-TCGA
rs150020241	p.Gly455Ser	missense variant	-	NC_000011.10:g.119664938C>T	ESP,ExAC,TOPMed,gnomAD
rs140477415	p.Asp461Glu	missense variant	-	NC_000011.10:g.119664918G>C	ESP,ExAC,TOPMed,gnomAD
rs779779190	p.Glu462Gln	missense variant	-	NC_000011.10:g.119664917C>G	ExAC,TOPMed,gnomAD
rs779779190	p.Glu462Lys	missense variant	-	NC_000011.10:g.119664917C>T	ExAC,TOPMed,gnomAD
rs750423713	p.Ala464Thr	missense variant	-	NC_000011.10:g.119664911C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala464Asp	missense variant	-	NC_000011.10:g.119664910G>T	NCI-TCGA
rs1216208557	p.Ala464Val	missense variant	-	NC_000011.10:g.119664910G>A	gnomAD
rs765204093	p.Lys465Gln	missense variant	-	NC_000011.10:g.119664908T>G	ExAC,TOPMed,gnomAD
rs1475639621	p.Lys465Arg	missense variant	-	NC_000011.10:g.119664907T>C	TOPMed
rs760713461	p.Arg466Trp	missense variant	-	NC_000011.10:g.119664905G>A	ExAC,TOPMed,gnomAD
rs752790442	p.Arg466Gln	missense variant	-	NC_000011.10:g.119664904C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro467Ser	missense variant	-	NC_000011.10:g.119664902G>A	NCI-TCGA
COSM3397473	p.Tyr468Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119664897G>C	NCI-TCGA Cosmic
rs771356689	p.Val471Met	missense variant	-	NC_000011.10:g.119664890C>T	ExAC,gnomAD
rs771356689	p.Val471Leu	missense variant	-	NC_000011.10:g.119664890C>A	ExAC,gnomAD
rs1174299090	p.Asp472Glu	missense variant	-	NC_000011.10:g.119664885A>T	TOPMed
rs371752868	p.Glu475Gln	missense variant	-	NC_000011.10:g.119664878C>G	ESP,ExAC,TOPMed,gnomAD
rs371752868	p.Glu475Lys	missense variant	-	NC_000011.10:g.119664878C>T	ESP,ExAC,TOPMed,gnomAD
rs747655907	p.Ala476Thr	missense variant	-	NC_000011.10:g.119664875C>T	ExAC,TOPMed,gnomAD
rs780717440	p.Arg477Cys	missense variant	-	NC_000011.10:g.119664872G>A	ExAC,gnomAD
rs768218183	p.Arg477His	missense variant	-	NC_000011.10:g.119664871C>T	ExAC,TOPMed,gnomAD
rs141036439	p.Asp479Glu	missense variant	-	NC_000011.10:g.119664864G>T	ESP,ExAC,TOPMed,gnomAD
rs1350597487	p.Gly480Asp	missense variant	-	NC_000011.10:g.119664862C>T	TOPMed
rs147334676	p.Gly480Ser	missense variant	-	NC_000011.10:g.119664863C>T	ESP,ExAC,TOPMed,gnomAD
rs528927625	p.Tyr481Cys	missense variant	-	NC_000011.10:g.119664859T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs752740849	p.Gly482Arg	missense variant	-	NC_000011.10:g.119664857C>T	ExAC,TOPMed,gnomAD
rs752740849	p.Gly482Arg	missense variant	-	NC_000011.10:g.119664857C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp483Asn	missense variant	-	NC_000011.10:g.119664854C>T	NCI-TCGA
rs1222534764	p.Asp483Tyr	missense variant	-	NC_000011.10:g.119664854C>A	gnomAD
rs767573357	p.Arg484Leu	missense variant	-	NC_000011.10:g.119664850C>A	ExAC,TOPMed,gnomAD
rs767573357	p.Arg484Gln	missense variant	-	NC_000011.10:g.119664850C>T	ExAC,TOPMed,gnomAD
rs767573357	p.Arg484Pro	missense variant	-	NC_000011.10:g.119664850C>G	ExAC,TOPMed,gnomAD
rs914734911	p.Arg484Trp	missense variant	-	NC_000011.10:g.119664851G>A	TOPMed,gnomAD
rs1197822863	p.Thr485Ala	missense variant	-	NC_000011.10:g.119664848T>C	TOPMed
rs1444761599	p.Leu486Val	missense variant	-	NC_000011.10:g.119664845G>C	TOPMed,gnomAD
rs374643713	p.Asp491Asn	missense variant	-	NC_000011.10:g.119664830C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu493Gln	missense variant	-	NC_000011.10:g.119664824C>G	NCI-TCGA
rs549511537	p.Leu497Phe	missense variant	-	NC_000011.10:g.119664810C>A	1000Genomes,ExAC,gnomAD
rs1423266236	p.Met501Ile	missense variant	-	NC_000011.10:g.119664798C>T	gnomAD
rs1414132172	p.Met501Val	missense variant	-	NC_000011.10:g.119664800T>C	gnomAD
rs1414132172	p.Met501Leu	missense variant	-	NC_000011.10:g.119664800T>G	gnomAD
rs773684345	p.Ser503Pro	missense variant	-	NC_000011.10:g.119664794A>G	ExAC,gnomAD
rs776020561	p.Asp506His	missense variant	-	NC_000011.10:g.119664785C>G	ExAC,TOPMed,gnomAD
rs776020561	p.Asp506Asn	missense variant	-	NC_000011.10:g.119664785C>T	ExAC,TOPMed,gnomAD
rs746506443	p.Gly507Arg	missense variant	-	NC_000011.10:g.119664782C>T	ExAC,gnomAD
rs202095358	p.Gly507Glu	missense variant	-	NC_000011.10:g.119664781C>T	ESP,ExAC,TOPMed,gnomAD
rs202095358	p.Gly507Ala	missense variant	-	NC_000011.10:g.119664781C>G	ESP,ExAC,TOPMed,gnomAD
rs1310109445	p.Phe509Ser	missense variant	-	NC_000011.10:g.119664775A>G	gnomAD
rs1015290207	p.Lys513Arg	missense variant	-	NC_000011.10:g.119664763T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr516His	missense variant	-	NC_000011.10:g.119664755A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr516Cys	missense variant	-	NC_000011.10:g.119664754T>C	NCI-TCGA
rs146113849	p.Tyr516Ter	stop gained	-	NC_000011.10:g.119664753G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1378089244	p.Val517Met	missense variant	-	NC_000011.10:g.119664752C>T	gnomAD
NCI-TCGA novel	p.Ter518TyrGluUnkThrTerUnk	stop lost	-	NC_000011.10:g.119664747C>A	NCI-TCGA
rs1309218276	p.Ter518Gln	stop lost	-	NC_000011.10:g.119664749A>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002170	Alopecia	disease	HPO
C0004364	Autoimmune Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008149	Chlamydia Infections	group	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;HPO;LHGDN;ORPHANET
C0008925	Cleft Palate	disease	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011334	Dental caries	disease	HPO
C0013575	Ectodermal Dysplasia	disease	BEFREE;HPO
C0014038	Encephalitis	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0019340	Herpes NOS	disease	BEFREE
C0019348	Herpes Simplex Infections	group	BEFREE;LHGDN
C0019372	Herpesviridae Infections	group	CTD_human
C0020608	Hypodontia	disease	HPO
C0020619	Hypogonadism	disease	HPO
C0021294	Infant, Premature	phenotype	BEFREE
C0021400	Influenza	disease	BEFREE
C0022596	Palmoplantar Keratosis	disease	HPO
C0022665	Kidney Neoplasm	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026946	Mycoses	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0032463	Polycythemia Vera	disease	BEFREE
C0033839	Pseudorabies	disease	BEFREE
C0037140	B Virus Infection	disease	CTD_human
C0037822	Speech Disorders	group	HPO
C0039075	Syndactyly	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0040427	Tooth Abnormalities	group	HPO
C0041296	Tuberculosis	disease	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0152421	Macrotia	disease	HPO
C0158646	Cleft palate with cleft lip	disease	BEFREE;ORPHANET
C0175754	Agenesis of corpus callosum	disease	BEFREE
C0206624	Hepatoblastoma	disease	BEFREE
C0221352	Syndactyly of fingers	disease	HPO
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0240340	Microdontia (disorder)	disease	HPO
C0242350	Erectile dysfunction	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0263491	Pili Torti	phenotype	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0266589	Congenital ear anomaly NOS (disorder)	group	HPO
C0269102	Endometrioma	disease	BEFREE
C0282160	Aplasia Cutis Congenita	disease	BEFREE
C0399352	Developmental absence of tooth	disease	HPO
C0403824	Teratozoospermia	disease	BEFREE
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0431447	Synophrys	disease	HPO
C0431659	Hypoplasia of scrotum	phenotype	HPO
C0549473	Thyroid carcinoma	disease	BEFREE
C0554972	Large auricle	phenotype	HPO
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0740404	Limb defects	group	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0853897	Diabetic Cardiomyopathies	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1298692	Cleft lip and alveolus	disease	ORPHANET
C1301194	Salivary duct carcinoma	disease	BEFREE
C1305420	Prominent ear	phenotype	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1398522	Cleft palate and bilateral cleft lip	disease	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1827524	Wide spaced nipples	phenotype	HPO
C1833225	Dystrophic toenail	phenotype	HPO
C1833538	OROFACIAL CLEFT 7	disease	CLINVAR
C1834405	Nail dysplasia	disease	HPO
C1834737	Cutaneous syndactyly of toes	disease	HPO
C1835884	Triangular face	phenotype	HPO
C1837770	Sparse hair	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1843300	Sparse eyelashes	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1857045	Abnormality of the philtrum	phenotype	HPO
C1857048	Progressive hypotrichosis	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857206	Sparse lateral eyebrow	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1861303	SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	disease	BEFREE
C1862095	Bilateral single transverse palmar creases	phenotype	HPO
C1863204	ADULT SYNDROME	disease	BEFREE
C1868571	Highly arched eyebrow	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2931488	Zlotogora-Ogur syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3267073	Autoinflammatory disease	group	BEFREE
C3551426	Dystrophic fingernails	phenotype	HPO
C3714514	Infection	group	LHGDN
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806482	Recurrent respiratory infections	phenotype	HPO
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021242	Hypoplasia of the zygomatic bone	phenotype	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4023722	Abnormality of hair texture	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4072879	Small cheekbone	phenotype	HPO
C4072880	Abnormality of hair consistency	phenotype	HPO
C4072881	Abnormality of hair curl pattern	phenotype	HPO
C4073290	Abnormality of hair volume	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280368	Hypotrophic cheekbone	phenotype	HPO
C4280369	Flattening of the zygomatic bone	phenotype	HPO
C4280370	Depressed cheekbone	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280622	Missing all teeth	phenotype	HPO
C4280623	Rotting teeth	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4282407	Sparse and thin eyebrow	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001618	virus receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0015026	coreceptor activity	TAS
GO:0030246	carbohydrate binding	IEA
GO:0038023	signaling receptor activity	IBA
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	ISS
GO:0042803	protein homodimerization activity	IBA
GO:0044877	protein-containing complex binding	IEA
GO:0046790	virion binding	IEA
GO:0050839	cell adhesion molecule binding	IPI
GO:0050839	cell adhesion molecule binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002089	lens morphogenesis in camera-type eye	IEA
GO:0002934	desmosome organization	IEA
GO:0006826	iron ion transport	IEA
GO:0006955	immune response	NAS
GO:0007155	cell adhesion	NAS
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007411	axon guidance	IEA
GO:0019062	virion attachment to host cell	IEA
GO:0034332	adherens junction organization	TAS
GO:0046718	viral entry into host cell	NAS
GO:0051963	regulation of synapse assembly	IEA
GO:0060041	retina development in camera-type eye	IEA
GO:0070166	enamel mineralization	IEA
GO:0098609	cell-cell adhesion	NAS
GO:1902414	protein localization to cell junction	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IEA
GO:0005886	plasma membrane	TAS
GO:0005912	adherens junction	IDA
GO:0005912	adherens junction	NAS
GO:0005912	adherens junction	IBA
GO:0016020	membrane	TAS
GO:0016021	integral component of membrane	NAS
GO:0030425	dendrite	IEA
GO:0032584	growth cone membrane	IEA
GO:0043231	intracellular membrane-bounded organelle	IEA
GO:0043296	apical junction complex	IEA
GO:0044291	cell-cell contact zone	IEA
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA
GO:0099059	integral component of presynaptic active zone membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1500931	Cell-Cell communication	TAS
R-HSA-418990	Adherens junctions interactions	TAS
R-HSA-420597	Nectin/Necl trans heterodimerization	TAS
R-HSA-421270	Cell-cell junction organization	TAS
R-HSA-446728	Cell junction organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of NECTIN1 mRNA	27840820
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of NECTIN1 mRNA	23829299
C057349	2,4-decadienal	2,4-decadienal results in decreased expression of NECTIN1 mRNA	22363721
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in decreased expression of NECTIN1 mRNA	23829299
C035208	2-amino-4,6-dinitrotoluene	2-amino-4,6-dinitrotoluene affects the expression of NECTIN1 mRNA	21346803
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of NECTIN1 mRNA	12419474
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of NECTIN1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NECTIN1 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NECTIN1 mRNA	19770486
D019386	Alendronate	Alendronate affects the expression of NECTIN1 mRNA	16079270
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of NECTIN1 mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of NECTIN1 mRNA	22982499
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NECTIN1 mRNA	26238291
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to NECTIN1 promoter]	19654925
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of NECTIN1 mRNA	26377693
C006780	bisphenol A	bisphenol A results in increased expression of NECTIN1 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of NECTIN1 mRNA	26472689
D002211	Capsaicin	Capsaicin results in increased expression of NECTIN1 mRNA	16278290
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of NECTIN1 mRNA	31150632
D002945	Cisplatin	Cisplatin affects the expression of NECTIN1 mRNA	23300844
D019327	Copper Sulfate	Copper Sulfate results in increased expression of NECTIN1 mRNA	19549813
D000077209	Decitabine	Decitabine affects the expression of NECTIN1 mRNA	23300844
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of NECTIN1 mRNA	21658437
D004317	Doxorubicin	Doxorubicin results in decreased expression of NECTIN1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of NECTIN1 mRNA	29391264
D004958	Estradiol	Estradiol results in decreased expression of NECTIN1 mRNA	20068009
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of NECTIN1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of NECTIN1 mRNA	16079270
D005419	Flavonoids	Flavonoids results in decreased expression of NECTIN1 mRNA	18035473
D004397	Fonofos	Fonofos results in increased methylation of NECTIN1 promoter	22847954
C069837	fullerene C60	fullerene C60 results in decreased expression of NECTIN1 mRNA	19167457
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of NECTIN1 mRNA	20044591
D019344	Lactic Acid	Lactic Acid results in increased expression of NECTIN1 mRNA	30851411
D000077339	Leflunomide	Leflunomide results in decreased expression of NECTIN1 mRNA	28988120
D008770	Methylnitrosourea	Methylnitrosourea results in decreased expression of NECTIN1 mRNA	16525678
D009151	Mustard Gas	Mustard Gas results in increased phosphorylation of NECTIN1 protein	19845377
C028007	nickel monoxide	nickel monoxide results in decreased expression of NECTIN1 mRNA	19167457
C025589	ochratoxin A	ochratoxin A results in increased acetylation of NECTIN1 promoter	29098329
C025589	ochratoxin A	[ochratoxin A results in increased acetylation of NECTIN1 promoter] which results in increased expression of NECTIN1 mRNA	29098329; 29098329;
C025589	ochratoxin A	ochratoxin A results in increased expression of NECTIN1 mRNA	29098329
D010100	Oxygen	Oxygen deficiency results in decreased expression of NECTIN1 mRNA	26516004
D010278	Parathion	Parathion results in increased methylation of NECTIN1 promoter	22847954
C410127	PCB 180	PCB 180 results in increased expression of NECTIN1 mRNA	23829299
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of NECTIN1 mRNA	24780913
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of NECTIN1 mRNA	16079270
D013629	Tamoxifen	Tamoxifen affects the expression of NECTIN1 mRNA	17555576
C012568	terbufos	terbufos results in increased methylation of NECTIN1 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NECTIN1 mRNA	28922406
D014212	Tretinoin	Tretinoin results in decreased expression of NECTIN1 mRNA	23724009
D000077288	Troglitazone	Troglitazone results in decreased expression of NECTIN1 mRNA	28973697
C025643	vinclozolin	vinclozolin results in decreased expression of NECTIN1 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1015	Disulfide bond
KW-0038	Ectodermal dysplasia
KW-0325	Glycoprotein
KW-1183	Host cell receptor for virus entry
KW-0945	Host-virus interaction
KW-0393	Immunoglobulin domain
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0770	Synapse
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR013162	CD80_C2-set
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR013106	Ig_V-set
IPR041849	Nectin-1_Ig1
IPR041850	Nectin-1_Ig2
IPR033314	Nectin1

PROSITE

PROSITE ID	PROSITE Term
PS50835	IG_LIKE

Pfam

Pfam ID	Pfam Term
PF08205	C2-set_2
PF07686	V-set

Gene: NECTIN1

Basic information

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-miRNA interaction