CleftGeneDB-Search

Gene: FZD7

Basic information

Tag	Content
Uniprot ID	O75084; O94816; Q53S59; Q96B74;
Entrez ID	8324
Genbank protein ID	BAA32424.1; AAX93250.1; EAW70298.1; AAH15915.1; BAA34668.1;
Genbank nucleotide ID	NM_003507.1
Ensembl protein ID	ENSP00000286201
Ensembl nucleotide ID	ENSG00000155760
Gene name	Frizzled-7
Gene symbol	FZD7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor for Wnt proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. Activation by WNT8 induces expression of beta-catenin target genes (By similarity). Following ligand activation, binds to CCDC88C/DAPLE which displaces DVL1 from FZD7 and leads to inhibition of canonical Wnt signaling, activation of G-proteins by CCDC88C and triggering of non-canonical Wnt responses (PubMed:26126266). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.
Sequence	MRDPGAAAPL SSLGLCALVL ALLGALSAGA GAQPYHGEKG ISVPDHGFCQ PISIPLCTDI 60 AYNQTILPNL LGHTNQEDAG LEVHQFYPLV KVQCSPELRF FLCSMYAPVC TVLDQAIPPC 120 RSLCERARQG CEALMNKFGF QWPERLRCEN FPVHGAGEIC VGQNTSDGSG GPGGGPTAYP 180 TAPYLPDLPF TALPPGASDG RGRPAFPFSC PRQLKVPPYL GYRFLGERDC GAPCEPGRAN 240 GLMYFKEEER RFARLWVGVW SVLCCASTLF TVLTYLVDMR RFSYPERPII FLSGCYFMVA 300 VAHVAGFLLE DRAVCVERFS DDGYRTVAQG TKKEGCTILF MVLYFFGMAS SIWWVILSLT 360 WFLAAGMKWG HEAIEANSQY FHLAAWAVPA VKTITILAMG QVDGDLLSGV CYVGLSSVDA 420 LRGFVLAPLF VYLFIGTSFL LAGFVSLFRI RTIMKHDGTK TEKLEKLMVR IGVFSVLYTV 480 PATIVLACYF YEQAFREHWE RTWLLQTCKS YAVPCPPGHF PPMSPDFTVF MIKYLMTMIV 540 GITTGFWIWS GKTLQSWRRF YHRLSHSSKG ETAV 574

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

PDB ID
4Z33
5T44
5URV
5WBS
6NE2
6NE4
6O3A
6O3B
4Z33
5T44
6NE2

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FZD7	524255	F1N4K7			Bos taurus	Prediction	More>>
1:1 ortholog	FZD7		F6XX91			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FZD7		A0A452G725			Capra hircus	Prediction	More>>
1:1 ortholog	FZD7	8324	O75084			Homo sapiens	Prediction	More>>
1:1 ortholog	Fzd7	14369	Q61090	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	FZD7	459881	A0A2I3TGC6			Pan troglodytes	Prediction	More>>
1:1 ortholog	FZD7		F1SI18			Sus scrofa	Prediction	More>>
1:1 ortholog	Fzd7	100360552	D4ACM8			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs61754568	p.Arg2Gln	missense variant	-	NC_000002.12:g.202034652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1339441816	p.Pro4Ser	missense variant	-	NC_000002.12:g.202034657C>T	TOPMed
NCI-TCGA novel	p.Pro4Leu	missense variant	-	NC_000002.12:g.202034658C>T	NCI-TCGA
NCI-TCGA novel	p.Pro4Thr	missense variant	-	NC_000002.12:g.202034657C>A	NCI-TCGA
rs1225758862	p.Ala6Val	missense variant	-	NC_000002.12:g.202034664C>T	TOPMed
rs760851152	p.Pro9Thr	missense variant	-	NC_000002.12:g.202034672C>A	ExAC,gnomAD
rs1361659381	p.Leu10Arg	missense variant	-	NC_000002.12:g.202034676T>G	gnomAD
rs766841500	p.Ser11Pro	missense variant	-	NC_000002.12:g.202034678T>C	ExAC,gnomAD
rs1346323424	p.Ser12Phe	missense variant	-	NC_000002.12:g.202034682C>T	gnomAD
rs960364984	p.Ser12Pro	missense variant	-	NC_000002.12:g.202034681T>C	TOPMed
rs992928365	p.Leu15Phe	missense variant	-	NC_000002.12:g.202034690C>T	TOPMed,gnomAD
rs201450666	p.Cys16Arg	missense variant	-	NC_000002.12:g.202034693T>C	1000Genomes,ExAC,gnomAD
rs982634074	p.Ala17Ser	missense variant	-	NC_000002.12:g.202034696G>T	TOPMed,gnomAD
rs765568446	p.Ala17Val	missense variant	-	NC_000002.12:g.202034697C>T	ExAC,TOPMed,gnomAD
rs982634074	p.Ala17Thr	missense variant	-	NC_000002.12:g.202034696G>A	TOPMed,gnomAD
rs751179155	p.Val19Ala	missense variant	-	NC_000002.12:g.202034703T>C	ExAC,gnomAD
rs1368729594	p.Ala21Val	missense variant	-	NC_000002.12:g.202034709C>T	gnomAD
rs978758739	p.Ala21Pro	missense variant	-	NC_000002.12:g.202034708G>C	TOPMed,gnomAD
rs755615030	p.Gly24Ser	missense variant	-	NC_000002.12:g.202034717G>A	UniProt,dbSNP
VAR_033024	p.Gly24Ser	missense variant	-	NC_000002.12:g.202034717G>A	UniProt
rs755615030	p.Gly24Ser	missense variant	-	NC_000002.12:g.202034717G>A	ExAC,gnomAD
rs35111363	p.Gly24Ala	missense variant	-	NC_000002.12:g.202034718G>C	TOPMed,gnomAD
rs35111363	p.Gly24Asp	missense variant	-	NC_000002.12:g.202034718G>A	TOPMed,gnomAD
rs1202328038	p.Ala25Ser	missense variant	-	NC_000002.12:g.202034720G>T	TOPMed
rs749235803	p.Ala25Gly	missense variant	-	NC_000002.12:g.202034721C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala25Thr	missense variant	-	NC_000002.12:g.202034720G>A	NCI-TCGA
rs778919859	p.Ala28Val	missense variant	-	NC_000002.12:g.202034730C>T	ExAC,TOPMed,gnomAD
rs1339508761	p.Gly29Ser	missense variant	-	NC_000002.12:g.202034732G>A	gnomAD
rs748369771	p.Ala30Thr	missense variant	-	NC_000002.12:g.202034735G>A	ExAC,gnomAD
rs1487949232	p.Ala32Val	missense variant	-	NC_000002.12:g.202034742C>T	gnomAD
rs1189250451	p.Gln33His	missense variant	-	NC_000002.12:g.202034746G>C	gnomAD
rs772362388	p.Pro34Leu	missense variant	-	NC_000002.12:g.202034748C>T	ExAC,gnomAD
rs1187805781	p.His36Asp	missense variant	-	NC_000002.12:g.202034753C>G	gnomAD
rs1388213273	p.His36Arg	missense variant	-	NC_000002.12:g.202034754A>G	gnomAD
NCI-TCGA novel	p.Gly37Arg	missense variant	-	NC_000002.12:g.202034756G>A	NCI-TCGA
rs140084102	p.Glu38Asp	missense variant	-	NC_000002.12:g.202034761G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1273976498	p.Glu38Val	missense variant	-	NC_000002.12:g.202034760A>T	TOPMed
rs747045136	p.Glu38Lys	missense variant	-	NC_000002.12:g.202034759G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu38Asp	missense variant	-	NC_000002.12:g.202034761G>T	NCI-TCGA
COSM4090281	p.Lys39Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034764G>T	NCI-TCGA Cosmic
rs1337389467	p.Ile41Val	missense variant	-	NC_000002.12:g.202034768A>G	TOPMed
NCI-TCGA novel	p.Ile41Asn	missense variant	-	NC_000002.12:g.202034769T>A	NCI-TCGA
rs200796298	p.Ser42Thr	missense variant	-	NC_000002.12:g.202034771T>A	ExAC,gnomAD
rs1434787939	p.Pro44Leu	missense variant	-	NC_000002.12:g.202034778C>T	gnomAD
rs775886653	p.Pro44Ser	missense variant	-	NC_000002.12:g.202034777C>T	ExAC,TOPMed
rs1367964884	p.Asp45Gly	missense variant	-	NC_000002.12:g.202034781A>G	TOPMed,gnomAD
rs763317919	p.Asp45Asn	missense variant	-	NC_000002.12:g.202034780G>A	ExAC,gnomAD
rs1320755268	p.Gly47Asp	missense variant	-	NC_000002.12:g.202034787G>A	gnomAD
rs1320755268	p.Gly47Ala	missense variant	-	NC_000002.12:g.202034787G>C	gnomAD
COSM719740	p.Gly47Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034786G>T	NCI-TCGA Cosmic
rs755630577	p.Phe48Val	missense variant	-	NC_000002.12:g.202034789T>G	ExAC,gnomAD
rs754930210	p.Pro51Arg	missense variant	-	NC_000002.12:g.202034799C>G	ExAC,gnomAD
rs754930210	p.Pro51Leu	missense variant	-	NC_000002.12:g.202034799C>T	ExAC,gnomAD
rs753811424	p.Pro51Ala	missense variant	-	NC_000002.12:g.202034798C>G	ExAC,gnomAD
rs779007814	p.Ile52Val	missense variant	-	NC_000002.12:g.202034801A>G	ExAC,TOPMed,gnomAD
rs758298218	p.Ile54Met	missense variant	-	NC_000002.12:g.202034809C>G	ExAC,gnomAD
rs778092158	p.Pro55Ser	missense variant	-	NC_000002.12:g.202034810C>T	ExAC,gnomAD
rs747242944	p.Pro55Gln	missense variant	-	NC_000002.12:g.202034811C>A	ExAC,gnomAD
rs776638713	p.Asp59His	missense variant	-	NC_000002.12:g.202034822G>C	ExAC,gnomAD
rs746371122	p.Ala61Val	missense variant	-	NC_000002.12:g.202034829C>T	ExAC,gnomAD
rs763259152	p.Asn63His	missense variant	-	NC_000002.12:g.202034834A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn63Thr	missense variant	-	NC_000002.12:g.202034835A>C	NCI-TCGA
rs1471966906	p.Thr65Asn	missense variant	-	NC_000002.12:g.202034841C>A	TOPMed
rs1212605455	p.Ile66Met	missense variant	-	NC_000002.12:g.202034845C>G	TOPMed
rs765901552	p.Gly72Cys	missense variant	-	NC_000002.12:g.202034861G>T	ExAC,gnomAD
rs753231460	p.Gly72Asp	missense variant	-	NC_000002.12:g.202034862G>A	ExAC,gnomAD
NCI-TCGA novel	p.His73Asp	missense variant	-	NC_000002.12:g.202034864C>G	NCI-TCGA
rs547303593	p.Thr74Arg	missense variant	-	NC_000002.12:g.202034868C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs547303593	p.Thr74Met	missense variant	-	NC_000002.12:g.202034868C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1482347697	p.Asn75Ile	missense variant	-	NC_000002.12:g.202034871A>T	gnomAD
rs758245010	p.Asp78Asn	missense variant	-	NC_000002.12:g.202034879G>A	ExAC,gnomAD
rs777749596	p.Asp78Glu	missense variant	-	NC_000002.12:g.202034881C>A	ExAC,gnomAD
rs1157412361	p.Gly80Cys	missense variant	-	NC_000002.12:g.202034885G>T	gnomAD
NCI-TCGA novel	p.Gly80Ser	missense variant	-	NC_000002.12:g.202034885G>A	NCI-TCGA
rs1401825150	p.Leu81His	missense variant	-	NC_000002.12:g.202034889T>A	gnomAD
rs1226692312	p.Glu82Ter	stop gained	-	NC_000002.12:g.202034891G>T	TOPMed
NCI-TCGA novel	p.Tyr87Phe	missense variant	-	NC_000002.12:g.202034907A>T	NCI-TCGA
COSM442123	p.Val90Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034915G>C	NCI-TCGA Cosmic
rs368323286	p.Lys91Glu	missense variant	-	NC_000002.12:g.202034918A>G	ESP,ExAC,TOPMed,gnomAD
rs1293935728	p.Val92Leu	missense variant	-	NC_000002.12:g.202034921G>T	TOPMed
rs769887663	p.Pro96Ala	missense variant	-	NC_000002.12:g.202034933C>G	ExAC,TOPMed,gnomAD
rs769887663	p.Pro96Ser	missense variant	-	NC_000002.12:g.202034933C>T	ExAC,TOPMed,gnomAD
rs780521635	p.Pro96Leu	missense variant	-	NC_000002.12:g.202034934C>T	ExAC,TOPMed,gnomAD
rs1401639507	p.Glu97Gly	missense variant	-	NC_000002.12:g.202034937A>G	TOPMed
COSM1014987	p.Phe100Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034945T>G	NCI-TCGA Cosmic
rs1360444754	p.Met105Ile	missense variant	-	NC_000002.12:g.202034962G>A	TOPMed,gnomAD
rs1157551362	p.Met105Leu	missense variant	-	NC_000002.12:g.202034960A>T	TOPMed
rs776377398	p.Tyr106Asn	missense variant	-	NC_000002.12:g.202034963T>A	ExAC,gnomAD
rs1254206415	p.Tyr106Cys	missense variant	-	NC_000002.12:g.202034964A>G	gnomAD
COSM1404551	p.Tyr106His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034963T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala107Ser	missense variant	-	NC_000002.12:g.202034966G>T	NCI-TCGA
rs1470744219	p.Pro108Leu	missense variant	-	NC_000002.12:g.202034970C>T	gnomAD
rs764888077	p.Val109Leu	missense variant	-	NC_000002.12:g.202034972G>T	ExAC,TOPMed,gnomAD
rs764888077	p.Val109Met	missense variant	-	NC_000002.12:g.202034972G>A	ExAC,TOPMed,gnomAD
rs757076058	p.Ile117Met	missense variant	-	NC_000002.12:g.202034998C>G	ExAC,gnomAD
rs751252031	p.Ile117Val	missense variant	-	NC_000002.12:g.202034996A>G	ExAC,TOPMed,gnomAD
rs893983948	p.Pro118Arg	missense variant	-	NC_000002.12:g.202035000C>G	TOPMed,gnomAD
rs893983948	p.Pro118Gln	missense variant	-	NC_000002.12:g.202035000C>A	TOPMed,gnomAD
rs1466062224	p.Pro118Ser	missense variant	-	NC_000002.12:g.202034999C>T	TOPMed
rs1010905016	p.Arg121Ser	missense variant	-	NC_000002.12:g.202035008C>A	TOPMed,gnomAD
rs1010905016	p.Arg121Gly	missense variant	-	NC_000002.12:g.202035008C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg121Cys	missense variant	-	NC_000002.12:g.202035008C>T	NCI-TCGA
rs1020354758	p.Ser122Cys	missense variant	-	NC_000002.12:g.202035012C>G	TOPMed
rs1020354758	p.Ser122Phe	missense variant	-	NC_000002.12:g.202035012C>T	TOPMed
NCI-TCGA novel	p.Ser122Tyr	missense variant	-	NC_000002.12:g.202035012C>A	NCI-TCGA
rs781228423	p.Leu123Val	missense variant	-	NC_000002.12:g.202035014C>G	ExAC,TOPMed,gnomAD
rs1365417398	p.Cys124Tyr	missense variant	-	NC_000002.12:g.202035018G>A	gnomAD
rs1230100560	p.Cys124Trp	missense variant	-	NC_000002.12:g.202035019C>G	TOPMed
rs1448747662	p.Arg126Gly	missense variant	-	NC_000002.12:g.202035023C>G	gnomAD
NCI-TCGA novel	p.Arg126Cys	missense variant	-	NC_000002.12:g.202035023C>T	NCI-TCGA
rs756159952	p.Arg128Leu	missense variant	-	NC_000002.12:g.202035030G>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg128His	missense variant	-	NC_000002.12:g.202035030G>A	NCI-TCGA
rs749785666	p.Gln129Ter	stop gained	-	NC_000002.12:g.202035032C>T	ExAC,gnomAD
rs749785666	p.Gln129Glu	missense variant	-	NC_000002.12:g.202035032C>G	ExAC,gnomAD
rs964070574	p.Gly130Asp	missense variant	-	NC_000002.12:g.202035036G>A	TOPMed
rs1438604237	p.Glu132Lys	missense variant	-	NC_000002.12:g.202035041G>A	gnomAD
NCI-TCGA novel	p.Glu132Gln	missense variant	-	NC_000002.12:g.202035041G>C	NCI-TCGA
rs1318881499	p.Ala133Ser	missense variant	-	NC_000002.12:g.202035044G>T	TOPMed
COSM6156567	p.Ala133Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035045C>A	NCI-TCGA Cosmic
rs748422280	p.Leu134Arg	missense variant	-	NC_000002.12:g.202035048T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu134Val	missense variant	-	NC_000002.12:g.202035047C>G	NCI-TCGA
rs1194851481	p.Asn136Ser	missense variant	-	NC_000002.12:g.202035054A>G	gnomAD
rs1395850429	p.Lys137Met	missense variant	-	NC_000002.12:g.202035057A>T	TOPMed
rs1390081657	p.Phe138Cys	missense variant	-	NC_000002.12:g.202035060T>G	gnomAD
rs776305663	p.GlnTrp141GlnTerValUnk	stop gained	-	NC_000002.12:g.202035069_202035072dup	ExAC,gnomAD
rs1029560195	p.Glu144Asp	missense variant	-	NC_000002.12:g.202035079G>T	TOPMed,gnomAD
rs1322672860	p.Arg147Cys	missense variant	-	NC_000002.12:g.202035086C>T	TOPMed,gnomAD
rs1304131500	p.Glu149Gly	missense variant	-	NC_000002.12:g.202035093A>G	gnomAD
rs1450888277	p.Asn150Tyr	missense variant	-	NC_000002.12:g.202035095A>T	TOPMed
rs1271936629	p.Phe151Tyr	missense variant	-	NC_000002.12:g.202035099T>A	gnomAD
NCI-TCGA novel	p.Ala156Val	missense variant	-	NC_000002.12:g.202035114C>T	NCI-TCGA
rs1287956554	p.Gly157Asp	missense variant	-	NC_000002.12:g.202035117G>A	gnomAD
rs762562271	p.Gly157Cys	missense variant	-	NC_000002.12:g.202035116G>T	ExAC,gnomAD
rs1470150101	p.Glu158Asp	missense variant	-	NC_000002.12:g.202035121G>T	gnomAD
rs763868554	p.Ile159Asn	missense variant	-	NC_000002.12:g.202035123T>A	ExAC,gnomAD
rs763868554	p.Ile159Thr	missense variant	-	NC_000002.12:g.202035123T>C	ExAC,gnomAD
rs1248026205	p.Cys160Phe	missense variant	-	NC_000002.12:g.202035126G>T	gnomAD
rs1448135519	p.Gln163Ter	stop gained	-	NC_000002.12:g.202035134C>T	gnomAD
rs751543710	p.Gln163Pro	missense variant	-	NC_000002.12:g.202035135A>C	ExAC,gnomAD
rs1475553188	p.Thr165Met	missense variant	-	NC_000002.12:g.202035141C>T	gnomAD
rs185267840	p.Ser166Leu	missense variant	-	NC_000002.12:g.202035144C>T	1000Genomes,TOPMed
rs1162322036	p.Gly168Cys	missense variant	-	NC_000002.12:g.202035149G>T	gnomAD
rs566038011	p.Gly170Arg	missense variant	-	NC_000002.12:g.202035155G>A	gnomAD
rs1215406293	p.Gly171Asp	missense variant	-	NC_000002.12:g.202035159G>A	TOPMed
rs767389004	p.Gly171Ser	missense variant	-	NC_000002.12:g.202035158G>A	ExAC,TOPMed,gnomAD
rs767389004	p.Gly171Arg	missense variant	-	NC_000002.12:g.202035158G>C	ExAC,TOPMed,gnomAD
rs1344501190	p.Pro172Leu	missense variant	-	NC_000002.12:g.202035162C>T	TOPMed
rs1326327915	p.Pro176Ser	missense variant	-	NC_000002.12:g.202035173C>T	gnomAD
rs750610497	p.Thr177Ala	missense variant	-	NC_000002.12:g.202035176A>G	ExAC,gnomAD
rs1432750092	p.Ala178Val	missense variant	-	NC_000002.12:g.202035180C>T	gnomAD
rs909683952	p.Pro180Ser	missense variant	-	NC_000002.12:g.202035185C>T	TOPMed,gnomAD
rs753849552	p.Ala182Thr	missense variant	-	NC_000002.12:g.202035191G>A	ExAC,gnomAD
rs1337223448	p.Ala182Val	missense variant	-	NC_000002.12:g.202035192C>T	gnomAD
rs768746616	p.Pro183Leu	missense variant	-	NC_000002.12:g.202035195C>T	ExAC,gnomAD
rs768746616	p.Pro183Arg	missense variant	-	NC_000002.12:g.202035195C>G	ExAC,gnomAD
rs755082967	p.Pro183Ser	missense variant	-	NC_000002.12:g.202035194C>T	ExAC,gnomAD
rs758658014	p.Leu185Pro	missense variant	-	NC_000002.12:g.202035201T>C	ExAC,gnomAD
rs748736397	p.Leu185Val	missense variant	-	NC_000002.12:g.202035200C>G	ExAC,gnomAD
rs778267383	p.Asp187Glu	missense variant	-	NC_000002.12:g.202035208C>G	ExAC,gnomAD
rs745501154	p.Pro189Leu	missense variant	-	NC_000002.12:g.202035213C>T	ExAC,TOPMed,gnomAD
rs769510212	p.Thr191Ser	missense variant	-	NC_000002.12:g.202035219C>G	ExAC,TOPMed,gnomAD
rs769510212	p.Thr191Ile	missense variant	-	NC_000002.12:g.202035219C>T	ExAC,TOPMed,gnomAD
rs1170465228	p.Ala192Ser	missense variant	-	NC_000002.12:g.202035221G>T	TOPMed
rs748764354	p.Pro194Ser	missense variant	-	NC_000002.12:g.202035227C>T	ExAC,TOPMed,gnomAD
rs1332197379	p.Pro195Ala	missense variant	-	NC_000002.12:g.202035230C>G	gnomAD
rs1357614849	p.Pro195Leu	missense variant	-	NC_000002.12:g.202035231C>T	gnomAD
rs774128163	p.Gly196Trp	missense variant	-	NC_000002.12:g.202035233G>T	ExAC,TOPMed,gnomAD
rs774128163	p.Gly196Arg	missense variant	-	NC_000002.12:g.202035233G>A	ExAC,TOPMed,gnomAD
rs34908164	p.Gly196Glu	missense variant	-	NC_000002.12:g.202035234G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34908164	p.Gly196Glu	missense variant	-	NC_000002.12:g.202035234G>A	UniProt,dbSNP
VAR_033941	p.Gly196Glu	missense variant	-	NC_000002.12:g.202035234G>A	UniProt
rs767207672	p.Ala197Thr	missense variant	-	NC_000002.12:g.202035236G>A	ExAC,TOPMed,gnomAD
rs1344920415	p.Ala197Val	missense variant	-	NC_000002.12:g.202035237C>T	gnomAD
NCI-TCGA novel	p.Ala197ProPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.202035232G>-	NCI-TCGA
rs762005854	p.Arg203His	missense variant	-	NC_000002.12:g.202035255G>A	ExAC,TOPMed,gnomAD
rs1188265651	p.Arg203Cys	missense variant	-	NC_000002.12:g.202035254C>T	TOPMed,gnomAD
rs1188265651	p.Arg203Gly	missense variant	-	NC_000002.12:g.202035254C>G	TOPMed,gnomAD
rs765396513	p.Pro204Ser	missense variant	-	NC_000002.12:g.202035257C>T	ExAC,gnomAD
rs753137612	p.Pro204His	missense variant	-	NC_000002.12:g.202035258C>A	ExAC,gnomAD
rs765396513	p.Pro204Ala	missense variant	-	NC_000002.12:g.202035257C>G	ExAC,gnomAD
rs759000866	p.Ala205Val	missense variant	-	NC_000002.12:g.202035261C>T	ExAC,TOPMed,gnomAD
rs769617465	p.Phe206Leu	missense variant	-	NC_000002.12:g.202035265C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe206Tyr	missense variant	-	NC_000002.12:g.202035264T>A	NCI-TCGA
COSM4090282	p.Pro207Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035266C>A	NCI-TCGA Cosmic
rs757723607	p.Phe208Tyr	missense variant	-	NC_000002.12:g.202035270T>A	ExAC,gnomAD
rs1331049297	p.Cys210Phe	missense variant	-	NC_000002.12:g.202035276G>T	gnomAD
rs1308072780	p.Cys210Gly	missense variant	-	NC_000002.12:g.202035275T>G	gnomAD
rs1434026386	p.Arg212Gly	missense variant	-	NC_000002.12:g.202035281C>G	TOPMed,gnomAD
rs748991312	p.Arg212His	missense variant	-	NC_000002.12:g.202035282G>A	ExAC,TOPMed,gnomAD
rs768050210	p.Gln213His	missense variant	-	NC_000002.12:g.202035286G>T	ExAC,gnomAD
rs1349481688	p.Gln213Glu	missense variant	-	NC_000002.12:g.202035284C>G	gnomAD
NCI-TCGA novel	p.Gln213Ter	stop gained	-	NC_000002.12:g.202035284C>T	NCI-TCGA
NCI-TCGA novel	p.Leu214Val	missense variant	-	NC_000002.12:g.202035287C>G	NCI-TCGA
rs773973498	p.Lys215Arg	missense variant	-	NC_000002.12:g.202035291A>G	ExAC,gnomAD
rs747629174	p.Val216Met	missense variant	-	NC_000002.12:g.202035293G>A	ExAC,gnomAD
rs1367439438	p.Pro217Leu	missense variant	-	NC_000002.12:g.202035297C>T	TOPMed
rs1250906059	p.Pro217Ser	missense variant	-	NC_000002.12:g.202035296C>T	gnomAD
rs773165797	p.Pro218Ser	missense variant	-	NC_000002.12:g.202035299C>T	ExAC,gnomAD
rs1396791730	p.Pro218Leu	missense variant	-	NC_000002.12:g.202035300C>T	TOPMed,gnomAD
rs1396791730	p.Pro218Gln	missense variant	-	NC_000002.12:g.202035300C>A	TOPMed,gnomAD
rs1352985249	p.Gly221Asp	missense variant	-	NC_000002.12:g.202035309G>A	gnomAD
rs1368373758	p.Tyr222Phe	missense variant	-	NC_000002.12:g.202035312A>T	TOPMed
rs1299122672	p.Arg223Cys	missense variant	-	NC_000002.12:g.202035314C>T	gnomAD
COSM4090283	p.Arg223His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035315G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg223Gly	missense variant	-	NC_000002.12:g.202035314C>G	NCI-TCGA
NCI-TCGA novel	p.Arg228Cys	missense variant	-	NC_000002.12:g.202035329C>T	NCI-TCGA
rs1306993536	p.Cys230Tyr	missense variant	-	NC_000002.12:g.202035336G>A	TOPMed
rs776801836	p.Ala232Ser	missense variant	-	NC_000002.12:g.202035341G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala232Thr	missense variant	-	NC_000002.12:g.202035341G>A	NCI-TCGA
rs373396669	p.Pro233Gln	missense variant	-	NC_000002.12:g.202035345C>A	ESP,ExAC,TOPMed,gnomAD
rs1206130077	p.Cys234Ter	stop gained	-	NC_000002.12:g.202035349C>A	gnomAD
rs1251500958	p.Glu235Gln	missense variant	-	NC_000002.12:g.202035350G>C	gnomAD
NCI-TCGA novel	p.Glu235Lys	missense variant	-	NC_000002.12:g.202035350G>A	NCI-TCGA
rs762942182	p.Pro236Leu	missense variant	-	NC_000002.12:g.202035354C>T	ExAC
rs752131418	p.Arg238Cys	missense variant	-	NC_000002.12:g.202035359C>T	ExAC,gnomAD
rs1432587635	p.Ala239Thr	missense variant	-	NC_000002.12:g.202035362G>A	TOPMed
rs370505613	p.Leu242Pro	missense variant	-	NC_000002.12:g.202035372T>C	ESP,ExAC,gnomAD
rs1219913507	p.Met243Ile	missense variant	-	NC_000002.12:g.202035376G>A	gnomAD
rs778438593	p.Lys246Glu	missense variant	-	NC_000002.12:g.202035383A>G	ExAC
rs747655093	p.Glu247Lys	missense variant	-	NC_000002.12:g.202035386G>A	ExAC,gnomAD
rs1368102077	p.Glu247Gly	missense variant	-	NC_000002.12:g.202035387A>G	gnomAD
rs747655093	p.Glu247Gln	missense variant	-	NC_000002.12:g.202035386G>C	ExAC,gnomAD
rs1328263001	p.Glu248Lys	missense variant	-	NC_000002.12:g.202035389G>A	TOPMed,gnomAD
rs1434945843	p.Glu249Lys	missense variant	-	NC_000002.12:g.202035392G>A	gnomAD
rs1319336726	p.Glu249Asp	missense variant	-	NC_000002.12:g.202035394G>C	gnomAD
rs374592078	p.Arg250Gly	missense variant	-	NC_000002.12:g.202035395A>G	ESP,TOPMed
COSM4090285	p.Arg251Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035398C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg251Pro	missense variant	-	NC_000002.12:g.202035399G>C	NCI-TCGA
NCI-TCGA novel	p.Phe252Ser	missense variant	-	NC_000002.12:g.202035402T>C	NCI-TCGA
rs1208459790	p.Ala253Ser	missense variant	-	NC_000002.12:g.202035404G>T	TOPMed
rs1295925810	p.Ala253Val	missense variant	-	NC_000002.12:g.202035405C>T	gnomAD
rs140897513	p.Leu255Phe	missense variant	-	NC_000002.12:g.202035410C>T	ESP,ExAC,TOPMed,gnomAD
rs776466891	p.Trp256Cys	missense variant	-	NC_000002.12:g.202035415G>C	ExAC,gnomAD
rs759263156	p.Val257Met	missense variant	-	NC_000002.12:g.202035416G>A	ExAC,gnomAD
rs769990859	p.Val259Met	missense variant	-	NC_000002.12:g.202035422G>A	ExAC,gnomAD
rs769990859	p.Val259Leu	missense variant	-	NC_000002.12:g.202035422G>T	ExAC,gnomAD
rs1486923501	p.Trp260Ter	stop gained	-	NC_000002.12:g.202035426G>A	gnomAD
NCI-TCGA novel	p.Ser267Leu	missense variant	-	NC_000002.12:g.202035447C>T	NCI-TCGA
rs369157584	p.Thr268Ser	missense variant	-	NC_000002.12:g.202035449A>T	ESP,ExAC,TOPMed,gnomAD
rs369157584	p.Thr268Ala	missense variant	-	NC_000002.12:g.202035449A>G	ESP,ExAC,TOPMed,gnomAD
rs371541002	p.Thr271Ile	missense variant	-	NC_000002.12:g.202035459C>T	ESP,ExAC,TOPMed,gnomAD
rs371541002	p.Thr271Ser	missense variant	-	NC_000002.12:g.202035459C>G	ESP,ExAC,TOPMed,gnomAD
rs1300922220	p.Thr271Ala	missense variant	-	NC_000002.12:g.202035458A>G	TOPMed
rs778579874	p.Val272Ile	missense variant	-	NC_000002.12:g.202035461G>A	ExAC,TOPMed,gnomAD
rs778579874	p.Val272Phe	missense variant	-	NC_000002.12:g.202035461G>T	ExAC,TOPMed,gnomAD
rs1412486458	p.Thr274Ile	missense variant	-	NC_000002.12:g.202035468C>T	gnomAD
NCI-TCGA novel	p.Thr274Asn	missense variant	-	NC_000002.12:g.202035468C>A	NCI-TCGA
rs757874303	p.Val277Ala	missense variant	-	NC_000002.12:g.202035477T>C	ExAC,gnomAD
rs375789778	p.Met279Ile	missense variant	-	NC_000002.12:g.202035484G>A	ESP,ExAC,TOPMed,gnomAD
rs1181462221	p.Pro285Leu	missense variant	-	NC_000002.12:g.202035501C>T	TOPMed
rs1039747640	p.Arg287Gln	missense variant	-	NC_000002.12:g.202035507G>A	TOPMed
NCI-TCGA novel	p.Arg287Trp	missense variant	-	NC_000002.12:g.202035506C>T	NCI-TCGA
rs746933869	p.Pro288Arg	missense variant	-	NC_000002.12:g.202035510C>G	ExAC
rs112587415	p.Ile289Val	missense variant	-	NC_000002.12:g.202035512A>G	gnomAD
rs781110747	p.Ile289Met	missense variant	-	NC_000002.12:g.202035514C>G	ExAC,TOPMed,gnomAD
rs982963006	p.Ile290Met	missense variant	-	NC_000002.12:g.202035517C>G	TOPMed,gnomAD
rs1180531030	p.Ile290Val	missense variant	-	NC_000002.12:g.202035515A>G	TOPMed
NCI-TCGA novel	p.Ser293Pro	missense variant	-	NC_000002.12:g.202035524T>C	NCI-TCGA
NCI-TCGA novel	p.Cys295Gly	missense variant	-	NC_000002.12:g.202035530T>G	NCI-TCGA
rs1451395018	p.Tyr296Ser	missense variant	-	NC_000002.12:g.202035534A>C	gnomAD
rs1159226499	p.Met298Thr	missense variant	-	NC_000002.12:g.202035540T>C	gnomAD
rs763122149	p.Met298Val	missense variant	-	NC_000002.12:g.202035539A>G	ExAC,TOPMed,gnomAD
rs1341945140	p.His303Tyr	missense variant	-	NC_000002.12:g.202035554C>T	TOPMed
NCI-TCGA novel	p.Ala305Val	missense variant	-	NC_000002.12:g.202035561C>T	NCI-TCGA
rs1038142339	p.Leu309Val	missense variant	-	NC_000002.12:g.202035572C>G	TOPMed
rs1193536366	p.Glu310Lys	missense variant	-	NC_000002.12:g.202035575G>A	gnomAD
rs201306518	p.Glu310Gly	missense variant	-	NC_000002.12:g.202035576A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1300462405	p.Asp311Glu	missense variant	-	NC_000002.12:g.202035580C>A	gnomAD
rs766695859	p.Asp311Gly	missense variant	-	NC_000002.12:g.202035579A>G	ExAC,gnomAD
rs766695859	p.Asp311Val	missense variant	-	NC_000002.12:g.202035579A>T	ExAC,gnomAD
rs761079277	p.Asp311Asn	missense variant	-	NC_000002.12:g.202035578G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg312His	missense variant	-	NC_000002.12:g.202035582G>A	NCI-TCGA
NCI-TCGA novel	p.Arg312Pro	missense variant	-	NC_000002.12:g.202035582G>C	NCI-TCGA
rs1213097813	p.Ala313Val	missense variant	-	NC_000002.12:g.202035585C>T	gnomAD
rs1458457825	p.Ala313Thr	missense variant	-	NC_000002.12:g.202035584G>A	TOPMed
rs1171032851	p.Val316Ala	missense variant	-	NC_000002.12:g.202035594T>C	TOPMed,gnomAD
rs1202884817	p.Val316Met	missense variant	-	NC_000002.12:g.202035593G>A	gnomAD
rs962532274	p.Arg318Pro	missense variant	-	NC_000002.12:g.202035600G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Phe319Leu	missense variant	-	NC_000002.12:g.202035604C>A	NCI-TCGA
rs376375888	p.Asp321Glu	missense variant	-	NC_000002.12:g.202035610C>A	ESP,ExAC,TOPMed,gnomAD
rs201094355	p.Asp322Tyr	missense variant	-	NC_000002.12:g.202035611G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1326518	p.Asp322Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035611G>A	NCI-TCGA Cosmic
rs756791088	p.Gly323Val	missense variant	-	NC_000002.12:g.202035615G>T	ExAC,gnomAD
COSM5009944	p.Gly323Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035615G>A	NCI-TCGA Cosmic
COSM3990979	p.Tyr324Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202035619C>G	NCI-TCGA Cosmic
rs755903607	p.Thr326Arg	missense variant	-	NC_000002.12:g.202035624C>G	ExAC,TOPMed,gnomAD
rs755903607	p.Thr326Met	missense variant	-	NC_000002.12:g.202035624C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val327Met	missense variant	-	NC_000002.12:g.202035626G>A	NCI-TCGA
rs1399375323	p.Ala328Ser	missense variant	-	NC_000002.12:g.202035629G>T	gnomAD
rs373015204	p.Ala328Glu	missense variant	-	NC_000002.12:g.202035630C>A	ESP,TOPMed
NCI-TCGA novel	p.Gly330Asp	missense variant	-	NC_000002.12:g.202035636G>A	NCI-TCGA
rs1356099942	p.Glu334Gly	missense variant	-	NC_000002.12:g.202035648A>G	gnomAD
rs981229079	p.Gly335Val	missense variant	-	NC_000002.12:g.202035651G>T	TOPMed,gnomAD
rs1263109646	p.Gly335Ser	missense variant	-	NC_000002.12:g.202035650G>A	TOPMed
rs768936211	p.Ile338Val	missense variant	-	NC_000002.12:g.202035659A>G	ExAC,gnomAD
rs748190045	p.Leu339Val	missense variant	-	NC_000002.12:g.202035662C>G	ExAC,TOPMed,gnomAD
rs748190045	p.Leu339Phe	missense variant	-	NC_000002.12:g.202035662C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe340HisPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.202035662_202035663CT>-	NCI-TCGA
NCI-TCGA novel	p.Phe346Leu	missense variant	-	NC_000002.12:g.202035685C>A	NCI-TCGA
rs766751333	p.Gly347Arg	missense variant	-	NC_000002.12:g.202035686G>C	ExAC,TOPMed,gnomAD
rs776802145	p.Met348Thr	missense variant	-	NC_000002.12:g.202035690T>C	ExAC,TOPMed,gnomAD
rs964122959	p.Ala349Val	missense variant	-	NC_000002.12:g.202035693C>T	TOPMed,gnomAD
rs964122959	p.Ala349Gly	missense variant	-	NC_000002.12:g.202035693C>G	TOPMed,gnomAD
rs1395116969	p.Trp353Cys	missense variant	-	NC_000002.12:g.202035706G>T	gnomAD
NCI-TCGA novel	p.Trp353Arg	missense variant	-	NC_000002.12:g.202035704T>A	NCI-TCGA
rs751230509	p.Val355Ala	missense variant	-	NC_000002.12:g.202035711T>C	ExAC,TOPMed,gnomAD
rs763695398	p.Val355Ile	missense variant	-	NC_000002.12:g.202035710G>A	ExAC
rs1165837627	p.Ser358Phe	missense variant	-	NC_000002.12:g.202035720C>T	gnomAD
rs1421184136	p.Trp361Cys	missense variant	-	NC_000002.12:g.202035730G>C	gnomAD
rs1052627983	p.Trp361Gly	missense variant	-	NC_000002.12:g.202035728T>G	TOPMed,gnomAD
rs144653732	p.Ala364Glu	missense variant	-	NC_000002.12:g.202035738C>A	ESP,TOPMed,gnomAD
rs144653732	p.Ala364Val	missense variant	-	NC_000002.12:g.202035738C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ala365Thr	missense variant	-	NC_000002.12:g.202035740G>A	NCI-TCGA
rs766972889	p.Gly366Asp	missense variant	-	NC_000002.12:g.202035744G>A	ExAC,gnomAD
rs1208720088	p.Met367Ile	missense variant	-	NC_000002.12:g.202035748G>C	TOPMed
rs1326702622	p.Met367Leu	missense variant	-	NC_000002.12:g.202035746A>C	gnomAD
rs1483210850	p.Glu375Ter	stop gained	-	NC_000002.12:g.202035770G>T	TOPMed
COSM3576396	p.Glu375Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035770G>A	NCI-TCGA Cosmic
rs1272206298	p.Ala376Thr	missense variant	-	NC_000002.12:g.202035773G>A	gnomAD
rs1340237363	p.Asn377Asp	missense variant	-	NC_000002.12:g.202035776A>G	gnomAD
rs1340237363	p.Asn377His	missense variant	-	NC_000002.12:g.202035776A>C	gnomAD
rs1271603959	p.Ser378Pro	missense variant	-	NC_000002.12:g.202035779T>C	gnomAD
NCI-TCGA novel	p.Tyr380Asn	missense variant	-	NC_000002.12:g.202035785T>A	NCI-TCGA
COSM3576397	p.His382Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035791C>T	NCI-TCGA Cosmic
rs749054651	p.Leu383Val	missense variant	-	NC_000002.12:g.202035794C>G	ExAC,gnomAD
rs754845922	p.Ala384Ser	missense variant	-	NC_000002.12:g.202035797G>T	ExAC,TOPMed,gnomAD
rs202180353	p.Ala385Val	missense variant	-	NC_000002.12:g.202035801C>T	1000Genomes,ExAC,gnomAD
rs1163977982	p.Val388Met	missense variant	-	NC_000002.12:g.202035809G>A	TOPMed,gnomAD
rs747123860	p.Ala390Thr	missense variant	-	NC_000002.12:g.202035815G>A	ExAC,gnomAD
rs1380670871	p.Thr393Ser	missense variant	-	NC_000002.12:g.202035825C>G	TOPMed,gnomAD
rs149352549	p.Ile394Val	missense variant	-	NC_000002.12:g.202035827A>G	ESP,ExAC,gnomAD
rs1327270604	p.Thr395Ala	missense variant	-	NC_000002.12:g.202035830A>G	gnomAD
rs1291635079	p.Ile396Val	missense variant	-	NC_000002.12:g.202035833A>G	TOPMed,gnomAD
rs1291635079	p.Ile396Leu	missense variant	-	NC_000002.12:g.202035833A>C	TOPMed,gnomAD
rs1376413817	p.Met399Val	missense variant	-	NC_000002.12:g.202035842A>G	TOPMed
rs767037777	p.Gly400Asp	missense variant	-	NC_000002.12:g.202035846G>A	ExAC,gnomAD
rs760267744	p.Gln401His	missense variant	-	NC_000002.12:g.202035850G>C	ExAC,gnomAD
rs749838885	p.Gln401Leu	missense variant	-	NC_000002.12:g.202035849A>T	ExAC,gnomAD
rs766182243	p.Asp403Glu	missense variant	-	NC_000002.12:g.202035856C>G	ExAC,gnomAD
rs1488988626	p.Asp403Gly	missense variant	-	NC_000002.12:g.202035855A>G	gnomAD
NCI-TCGA novel	p.Gly404Val	missense variant	-	NC_000002.12:g.202035858G>T	NCI-TCGA
rs138410404	p.Leu406Met	missense variant	-	NC_000002.12:g.202035863C>A	ESP,ExAC,TOPMed,gnomAD
rs138410404	p.Leu406Val	missense variant	-	NC_000002.12:g.202035863C>G	ESP,ExAC,TOPMed,gnomAD
rs754790390	p.Leu407Arg	missense variant	-	NC_000002.12:g.202035867T>G	ExAC,gnomAD
rs778919951	p.Ser408Gly	missense variant	-	NC_000002.12:g.202035869A>G	ExAC,TOPMed,gnomAD
rs376228466	p.Gly409Arg	missense variant	-	NC_000002.12:g.202035872G>C	ESP,ExAC,gnomAD
rs376228466	p.Gly409Arg	missense variant	-	NC_000002.12:g.202035872G>A	ESP,ExAC,gnomAD
rs747019981	p.Val410Ala	missense variant	-	NC_000002.12:g.202035876T>C	ExAC,TOPMed,gnomAD
rs1377495934	p.Tyr412Ter	stop gained	-	NC_000002.12:g.202035883C>A	gnomAD
rs1351203371	p.Tyr412His	missense variant	-	NC_000002.12:g.202035881T>C	TOPMed
rs1415784012	p.Gly414Ala	missense variant	-	NC_000002.12:g.202035888G>C	gnomAD
rs139393561	p.Ser417Cys	missense variant	-	NC_000002.12:g.202035896A>T	ESP,ExAC,gnomAD
rs775888500	p.Ala420Gly	missense variant	-	NC_000002.12:g.202035906C>G	ExAC,gnomAD
rs770136662	p.Ala420Ser	missense variant	-	NC_000002.12:g.202035905G>T	ExAC,TOPMed,gnomAD
COSM281276	p.Ala420Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035906C>T	NCI-TCGA Cosmic
rs763382154	p.Arg422Trp	missense variant	-	NC_000002.12:g.202035911C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly423Ala	missense variant	-	NC_000002.12:g.202035915G>C	NCI-TCGA
rs771586697	p.Val425Leu	missense variant	-	NC_000002.12:g.202035920G>T	ExAC,gnomAD
rs139806141	p.Val431Ile	missense variant	-	NC_000002.12:g.202035938G>A	ESP,TOPMed
rs765955164	p.Tyr432Cys	missense variant	-	NC_000002.12:g.202035942A>G	ExAC,TOPMed,gnomAD
rs753824459	p.Leu433Phe	missense variant	-	NC_000002.12:g.202035944C>T	ExAC,gnomAD
rs759605888	p.Phe434Leu	missense variant	-	NC_000002.12:g.202035949C>A	ExAC,gnomAD
rs559202385	p.Ile435Val	missense variant	-	NC_000002.12:g.202035950A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs945271936	p.Ile435Met	missense variant	-	NC_000002.12:g.202035952A>G	TOPMed
rs1171767397	p.Thr437Pro	missense variant	-	NC_000002.12:g.202035956A>C	gnomAD
NCI-TCGA novel	p.Thr437Met	missense variant	-	NC_000002.12:g.202035957C>T	NCI-TCGA
NCI-TCGA novel	p.Leu441Gln	missense variant	-	NC_000002.12:g.202035969T>A	NCI-TCGA
rs777808101	p.Ser446Cys	missense variant	-	NC_000002.12:g.202035984C>G	ExAC,TOPMed,gnomAD
rs777808101	p.Ser446Phe	missense variant	-	NC_000002.12:g.202035984C>T	ExAC,TOPMed,gnomAD
rs1370906276	p.Leu447Phe	missense variant	-	NC_000002.12:g.202035986C>T	gnomAD
rs781312452	p.Arg449His	missense variant	-	NC_000002.12:g.202035993G>A	ExAC,gnomAD
COSM2907826	p.Arg449Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035992C>T	NCI-TCGA Cosmic
COSM6156565	p.Arg449Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035993G>T	NCI-TCGA Cosmic
rs1237684776	p.Ile450Ser	missense variant	-	NC_000002.12:g.202035996T>G	TOPMed
rs746357590	p.Arg451Cys	missense variant	-	NC_000002.12:g.202035998C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg451His	missense variant	-	NC_000002.12:g.202035999G>A	NCI-TCGA
rs1233571370	p.Thr452Ser	missense variant	-	NC_000002.12:g.202036001A>T	gnomAD
rs1209287192	p.Met454Thr	missense variant	-	NC_000002.12:g.202036008T>C	TOPMed
rs146693247	p.Gly458Val	missense variant	-	NC_000002.12:g.202036020G>T	ESP
COSM1306309	p.Lys460Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036027G>C	NCI-TCGA Cosmic
rs780572956	p.Thr461Asn	missense variant	-	NC_000002.12:g.202036029C>A	ExAC,TOPMed,gnomAD
rs780572956	p.Thr461Ile	missense variant	-	NC_000002.12:g.202036029C>T	ExAC,TOPMed,gnomAD
rs749570044	p.Glu462Lys	missense variant	-	NC_000002.12:g.202036031G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu462Gly	missense variant	-	NC_000002.12:g.202036032A>G	NCI-TCGA
NCI-TCGA novel	p.Met468Thr	missense variant	-	NC_000002.12:g.202036050T>C	NCI-TCGA
COSM2907828	p.Arg470Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036055C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg470His	missense variant	-	NC_000002.12:g.202036056G>A	NCI-TCGA
rs201191053	p.Val473Leu	missense variant	-	NC_000002.12:g.202036064G>C	1000Genomes,ExAC,gnomAD
rs201191053	p.Val473Ile	missense variant	-	NC_000002.12:g.202036064G>A	1000Genomes,ExAC,gnomAD
rs772709570	p.Ser475Cys	missense variant	-	NC_000002.12:g.202036070A>T	ExAC,gnomAD
NCI-TCGA novel	p.Val476Leu	missense variant	-	NC_000002.12:g.202036073G>T	NCI-TCGA
rs1168789891	p.Thr483Ile	missense variant	-	NC_000002.12:g.202036095C>T	gnomAD
rs770553279	p.Ile484Val	missense variant	-	NC_000002.12:g.202036097A>G	ExAC,gnomAD
rs776225705	p.Ile484Met	missense variant	-	NC_000002.12:g.202036099C>G	ExAC,gnomAD
COSM1404557	p.Val485Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036100G>A	NCI-TCGA Cosmic
rs1226633427	p.Leu486Pro	missense variant	-	NC_000002.12:g.202036104T>C	TOPMed
rs759120037	p.Leu486Met	missense variant	-	NC_000002.12:g.202036103C>A	ExAC,gnomAD
rs35600847	p.Ala487Val	missense variant	-	NC_000002.12:g.202036107C>T	UniProt,dbSNP
VAR_033942	p.Ala487Val	missense variant	-	NC_000002.12:g.202036107C>T	UniProt
rs35600847	p.Ala487Val	missense variant	-	NC_000002.12:g.202036107C>T	-
rs1350289407	p.Cys488Tyr	missense variant	-	NC_000002.12:g.202036110G>A	TOPMed
rs1284972017	p.Tyr489Cys	missense variant	-	NC_000002.12:g.202036113A>G	TOPMed
rs1372601818	p.Tyr489Asn	missense variant	-	NC_000002.12:g.202036112T>A	gnomAD
NCI-TCGA novel	p.Tyr489Ter	stop gained	-	NC_000002.12:g.202036114C>A	NCI-TCGA
rs765225022	p.Phe490Leu	missense variant	-	NC_000002.12:g.202036117C>A	ExAC,gnomAD
rs775589753	p.Gln493His	missense variant	-	NC_000002.12:g.202036126G>T	ExAC,gnomAD
rs762632983	p.Ala494Val	missense variant	-	NC_000002.12:g.202036128C>T	ExAC,TOPMed,gnomAD
rs1436477460	p.Phe495Leu	missense variant	-	NC_000002.12:g.202036130T>C	TOPMed
rs1258416034	p.His498Tyr	missense variant	-	NC_000002.12:g.202036139C>T	TOPMed,gnomAD
COSM3838317	p.Trp499Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202036143G>A	NCI-TCGA Cosmic
rs1334110194	p.Arg501Cys	missense variant	-	NC_000002.12:g.202036148C>T	gnomAD
COSM4764401	p.Arg501His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036149G>A	NCI-TCGA Cosmic
COSM1014998	p.Thr507Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036167C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys508Tyr	missense variant	-	NC_000002.12:g.202036170G>A	NCI-TCGA
COSM3798522	p.Lys509Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036174G>C	NCI-TCGA Cosmic
rs1356408833	p.Tyr511Ter	stop gained	-	NC_000002.12:g.202036180T>G	gnomAD
rs751432827	p.Tyr511Ter	stop gained	-	NC_000002.12:g.202036179dup	ExAC,TOPMed,gnomAD
rs541873049	p.Ala512Asp	missense variant	-	NC_000002.12:g.202036182C>A	1000Genomes,ExAC,gnomAD
rs541873049	p.Ala512Gly	missense variant	-	NC_000002.12:g.202036182C>G	1000Genomes,ExAC,gnomAD
rs1188964012	p.Pro514Leu	missense variant	-	NC_000002.12:g.202036188C>T	TOPMed
rs1253159878	p.Pro516Leu	missense variant	-	NC_000002.12:g.202036194C>T	-
rs1287718003	p.Pro516Ala	missense variant	-	NC_000002.12:g.202036193C>G	gnomAD
rs1213783275	p.Pro517Leu	missense variant	-	NC_000002.12:g.202036197C>T	TOPMed
rs1278406659	p.Gly518Asp	missense variant	-	NC_000002.12:g.202036200G>A	gnomAD
COSM1404558	p.Gly518Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036199G>T	NCI-TCGA Cosmic
rs775255613	p.His519Gln	missense variant	-	NC_000002.12:g.202036204C>G	ExAC,gnomAD
rs769473710	p.His519Arg	missense variant	-	NC_000002.12:g.202036203A>G	ExAC,gnomAD
NCI-TCGA novel	p.His519Tyr	missense variant	-	NC_000002.12:g.202036202C>T	NCI-TCGA
rs763013166	p.Phe520Leu	missense variant	-	NC_000002.12:g.202036207C>G	ExAC,gnomAD
rs946938708	p.Phe520Leu	missense variant	-	NC_000002.12:g.202036205T>C	TOPMed
rs891140187	p.Pro521Arg	missense variant	-	NC_000002.12:g.202036209C>G	TOPMed,gnomAD
rs1322184413	p.Pro521Ser	missense variant	-	NC_000002.12:g.202036208C>T	gnomAD
rs763782149	p.Met523Val	missense variant	-	NC_000002.12:g.202036214A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met523Thr	missense variant	-	NC_000002.12:g.202036215T>C	NCI-TCGA
rs1486871073	p.Ser524Asn	missense variant	-	NC_000002.12:g.202036218G>A	gnomAD
rs1211876804	p.Pro525Ala	missense variant	-	NC_000002.12:g.202036220C>G	gnomAD
rs774136031	p.Asp526Asn	missense variant	-	NC_000002.12:g.202036223G>A	ExAC,gnomAD
rs1237694457	p.Thr528Ser	missense variant	-	NC_000002.12:g.202036230C>G	TOPMed,gnomAD
rs767678664	p.Phe530Leu	missense variant	-	NC_000002.12:g.202036237C>A	ExAC,gnomAD
rs140867221	p.Met531Val	missense variant	-	NC_000002.12:g.202036238A>G	ESP
rs1190426799	p.Met531Ile	missense variant	-	NC_000002.12:g.202036240G>A	TOPMed,gnomAD
rs1190426799	p.Met531Ile	missense variant	-	NC_000002.12:g.202036240G>T	TOPMed,gnomAD
rs1415169873	p.Lys533Arg	missense variant	-	NC_000002.12:g.202036245A>G	gnomAD
rs750694306	p.Lys533Asn	missense variant	-	NC_000002.12:g.202036246G>C	ExAC,gnomAD
rs756155956	p.Met536Ile	missense variant	-	NC_000002.12:g.202036255G>T	ExAC,gnomAD
rs1342968635	p.Thr537Ala	missense variant	-	NC_000002.12:g.202036256A>G	gnomAD
rs766517331	p.Met538Thr	missense variant	-	NC_000002.12:g.202036260T>C	ExAC,gnomAD
rs1420967138	p.Met538Val	missense variant	-	NC_000002.12:g.202036259A>G	gnomAD
rs368139563	p.Ile539Thr	missense variant	-	NC_000002.12:g.202036263T>C	ESP,TOPMed,gnomAD
rs754291190	p.Val540Ile	missense variant	-	NC_000002.12:g.202036265G>A	ExAC,gnomAD
rs1176490445	p.Ile542Phe	missense variant	-	NC_000002.12:g.202036271A>T	gnomAD
COSM4090288	p.Ile542Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036271A>G	NCI-TCGA Cosmic
rs748503156	p.Thr543Ile	missense variant	-	NC_000002.12:g.202036275C>T	ExAC,gnomAD
rs1403313159	p.Thr544Ile	missense variant	-	NC_000002.12:g.202036278C>T	TOPMed
rs528874438	p.Gly545Ala	missense variant	-	NC_000002.12:g.202036281G>C	ExAC,TOPMed,gnomAD
rs769424376	p.Trp547Ter	stop gained	-	NC_000002.12:g.202036288G>A	ExAC,gnomAD
rs372045596	p.Ile548Val	missense variant	-	NC_000002.12:g.202036289A>G	ESP,ExAC,TOPMed,gnomAD
rs748759824	p.Ile548Asn	missense variant	-	NC_000002.12:g.202036290T>A	ExAC,gnomAD
rs768569299	p.Ser550Leu	missense variant	-	NC_000002.12:g.202036296C>T	ExAC,TOPMed,gnomAD
rs774179533	p.Lys552Asn	missense variant	-	NC_000002.12:g.202036303G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser556Leu	missense variant	-	NC_000002.12:g.202036314C>T	NCI-TCGA
rs1480494909	p.Arg558Cys	missense variant	-	NC_000002.12:g.202036319C>T	gnomAD
rs1410790493	p.Arg559His	missense variant	-	NC_000002.12:g.202036323G>A	TOPMed,gnomAD
rs761575550	p.Arg559Ser	missense variant	-	NC_000002.12:g.202036322C>A	ExAC,gnomAD
rs1441079594	p.Phe560Leu	missense variant	-	NC_000002.12:g.202036325T>C	gnomAD
COSM4832294	p.Phe560Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036327C>G	NCI-TCGA Cosmic
rs771894898	p.His562Arg	missense variant	-	NC_000002.12:g.202036332A>G	ExAC,gnomAD
rs773419766	p.Arg563Ser	missense variant	-	NC_000002.12:g.202036336A>T	ExAC,gnomAD
rs1394116238	p.Arg563Gly	missense variant	-	NC_000002.12:g.202036334A>G	gnomAD
COSM6156564	p.Arg563Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202036334A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu564Arg	missense variant	-	NC_000002.12:g.202036338T>G	NCI-TCGA
rs1489938804	p.Ser565Asn	missense variant	-	NC_000002.12:g.202036341G>A	TOPMed
rs565714072	p.Ser565Gly	missense variant	-	NC_000002.12:g.202036340A>G	ExAC
rs766526311	p.Ser565Arg	missense variant	-	NC_000002.12:g.202036342C>A	ExAC,gnomAD
rs1359574039	p.Lys569Arg	missense variant	-	NC_000002.12:g.202036353A>G	gnomAD
rs1296448475	p.Gly570Arg	missense variant	-	NC_000002.12:g.202036355G>A	gnomAD
rs765723806	p.Glu571Asp	missense variant	-	NC_000002.12:g.202036360G>C	ExAC,TOPMed,gnomAD
rs1378933730	p.Glu571Ter	stop gained	-	NC_000002.12:g.202036358G>T	gnomAD
NCI-TCGA novel	p.Glu571Gly	missense variant	-	NC_000002.12:g.202036359A>G	NCI-TCGA
COSM1736252	p.Ala573Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036365C>T	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007095	Carcinoid Tumor	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0014859	Esophageal Neoplasms	group	BEFREE
C0017638	Glioma	disease	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206659	Embryonal Carcinoma	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0524909	Hepatitis B, Chronic	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005109	frizzled binding	IPI
GO:0005515	protein binding	IPI
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA
GO:0017147	Wnt-protein binding	IPI
GO:0017147	Wnt-protein binding	IBA
GO:0017147	Wnt-protein binding	NAS
GO:0030165	PDZ domain binding	IPI
GO:0042813	Wnt-activated receptor activity	IBA
GO:0042813	Wnt-activated receptor activity	NAS
GO:0042813	Wnt-activated receptor activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006355	regulation of transcription, DNA-templated	IMP
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0010812	negative regulation of cell-substrate adhesion	IMP
GO:0014834	skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA
GO:0019827	stem cell population maintenance	IMP
GO:0030182	neuron differentiation	ISS
GO:0033077	T cell differentiation in thymus	IEA
GO:0034446	substrate adhesion-dependent cell spreading	IEA
GO:0038031	non-canonical Wnt signaling pathway via JNK cascade	IMP
GO:0042327	positive regulation of phosphorylation	IDA
GO:0042666	negative regulation of ectodermal cell fate specification	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0046330	positive regulation of JNK cascade	IC
GO:0048103	somatic stem cell division	IEA
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IMP
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	IMP
GO:0060070	canonical Wnt signaling pathway	IBA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060231	mesenchymal to epithelial transition	IMP
GO:0060828	regulation of canonical Wnt signaling pathway	IMP
GO:0071300	cellular response to retinoic acid	ISS
GO:2000726	negative regulation of cardiac muscle cell differentiation	IGI

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0016021	integral component of membrane	IBA
GO:0016021	integral component of membrane	TAS
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0055038	recycling endosome membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-195721	Signaling by WNT	TAS
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	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS
R-HSA-500792	GPCR ligand binding	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C495626	14-deoxy-11,12-didehydroandrographolide	14-deoxy-11,12-didehydroandrographolide results in increased expression of FZD7 mRNA	22101062
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 FZD7 mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of FZD7 mRNA	30723492
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran affects the expression of FZD7 mRNA	18343893
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one results in increased expression of FZD7 mRNA	19946333
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	TP53 protein affects the reaction [2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one results in increased expression of FZD7 mRNA]	19946333
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of FZD7 mRNA	20382639
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of FZD7 mRNA	19150397
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of FZD7 mRNA	22079614
C496492	abrine	abrine results in decreased expression of FZD7 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of FZD7 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of FZD7 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of FZD7 mRNA	28943387
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of FZD7 mRNA	21757418
D000661	Amphetamine	Amphetamine results in increased expression of FZD7 mRNA	30779732
D000077332	Artesunate	FZD7 mRNA results in increased susceptibility to Artesunate	20144594
C547126	AZM551248	AZM551248 results in decreased expression of FZD7 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD7 mRNA	29950665
C487081	belinostat	belinostat results in increased expression of FZD7 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of FZD7 mRNA	20106945; 21632981;
C044887	beta-methylcholine	beta-methylcholine affects the expression of FZD7 mRNA	21179406
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 FZD7 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of FZD7 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of FZD7 mRNA	29323181
C018475	butyraldehyde	butyraldehyde results in decreased expression of FZD7 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FZD7 mRNA	20478370
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FZD7 protein	20478370
D002220	Carbamazepine	Carbamazepine affects the expression of FZD7 mRNA	24752500; 25979313;
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of FZD7 mRNA	18502319
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FZD7 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of FZD7 mRNA	27392435
D003513	Cycloheximide	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of FZD7 mRNA]	11007951
D016572	Cyclosporine	Cyclosporine results in increased expression of FZD7 mRNA	20106945
D000077209	Decitabine	Decitabine results in decreased expression of FZD7 mRNA	19363521
D000077209	Decitabine	TP53 protein affects the reaction [Decitabine results in decreased expression of FZD7 mRNA]	19363521
D000077209	Decitabine	Decitabine results in increased expression of FZD7 mRNA	27915011
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 FZD7 mRNA	28628672
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD7 mRNA	29950665
D003976	Diazinon	Diazinon affects the expression of FZD7 mRNA	19130878
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FZD7 mRNA	21266533
D004008	Diclofenac	Diclofenac affects the expression of FZD7 mRNA	24752500
D004026	Dieldrin	Dieldrin affects the expression of FZD7 mRNA	19130878
D004041	Dietary Fats	Dietary Fats results in decreased expression of FZD7 mRNA	18042831
D004041	Dietary Fats	Dietary Fats results in increased expression of FZD7 mRNA	18042831
C058705	diethyl malate	diethyl malate affects the expression of FZD7 mRNA	24814887
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
D004726	Endosulfan	Endosulfan results in increased expression of FZD7 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of FZD7 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of FZD7 mRNA	14699072
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of FZD7 mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of FZD7 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of FZD7 mRNA	19167446
D004958	Estradiol	ESR1 protein promotes the reaction [Estradiol results in decreased expression of FZD7 mRNA]	25210133
D004958	Estradiol	Estradiol results in decreased expression of FZD7 mRNA	25210133
D000431	Ethanol	Ethanol results in increased expression of FZD7 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of FZD7 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FZD7 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of FZD7 mRNA	23129252
C540355	fenamidone	fenamidone results in increased expression of FZD7 mRNA	27029645
D005485	Flutamide	Flutamide results in increased expression of FZD7 mRNA	24136188
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in decreased methylation of FZD7 mRNA	22959928
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FZD7 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of FZD7 mRNA	27664576
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of FZD7 mRNA	20044591
C492448	ICG 001	ICG 001 results in decreased expression of FZD7 mRNA	26191083
D007213	Indomethacin	Indomethacin results in decreased expression of FZD7 mRNA	16984733
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 FZD7 mRNA	28628672
D019344	Lactic Acid	Lactic Acid results in decreased expression of FZD7 mRNA	30851411
D000077339	Leflunomide	Leflunomide results in increased expression of FZD7 mRNA	28988120
C482199	lipopolysaccharide, E coli O55-B5	[trovafloxacin co-treated with lipopolysaccharide, E coli O55-B5] results in decreased expression of FZD7 mRNA	18930950
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of FZD7 mRNA	21641980
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of FZD7 mRNA	26378955
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FZD7 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FZD7 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of FZD7 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of FZD7 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of FZD7 mRNA	25554681
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of FZD7 mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of FZD7 mRNA	30529165
D000073878	Palm Oil	Palm Oil results in decreased expression of FZD7 mRNA	18042831
D000073878	Palm Oil	Palm Oil results in increased expression of FZD7 mRNA	18042831
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD7 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of FZD7 mRNA	26272509
C016030	pantogab	pantogab results in decreased expression of FZD7 mRNA	17379144
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of FZD7 mRNA	19429403
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of FZD7 mRNA	19429403
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of FZD7 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of FZD7 mRNA	18445702; 23811191;
C006253	pirinixic acid	pirinixic acid results in increased expression of FZD7 mRNA	18301758
D010936	Plant Extracts	Plant Extracts results in decreased expression of FZD7 mRNA	23557933
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of FZD7 mRNA	23608068
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of FZD7 mRNA	20660070
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of FZD7 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of FZD7 mRNA	21632981
C031389	resorcinol	resorcinol results in increased expression of FZD7 mRNA	22623647
D012402	Rotenone	Rotenone results in decreased expression of FZD7 mRNA	29955902
D012643	Selenium	Selenium results in decreased expression of FZD7 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of FZD7 mRNA	25895662
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in decreased methylation of FZD7 mRNA	22959928
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of FZD7 mRNA	21641980
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of FZD7 mRNA	26378955
D000077210	Sunitinib	Sunitinib results in increased expression of FZD7 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of FZD7 mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of FZD7 mRNA	17555576
D013629	Tamoxifen	Tamoxifen results in increased expression of FZD7 mRNA	25123088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FZD7 mRNA	18495758
D013749	Tetrachlorodibenzodioxin	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of FZD7 mRNA]	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FZD7 mRNA	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FZD7 mRNA	18343893; 21570461;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FZD7 mRNA	21354282
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FZD7 mRNA	15328365; 16214954; 21889950; 25975270; 26290441;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of FZD7 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FZD7 mRNA	21215274
D019284	Thapsigargin	Thapsigargin results in decreased expression of FZD7 mRNA	22378314
D013849	Thimerosal	Thimerosal results in decreased expression of FZD7 mRNA	27188386
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD7 mRNA	29950665
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of FZD7 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of FZD7 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of FZD7 mRNA	23724009
C012589	trichostatin A	trichostatin A results in increased expression of FZD7 mRNA	24935251
D014260	Triclosan	Triclosan results in decreased expression of FZD7 mRNA	30510588
D014284	Triiodothyronine	Triiodothyronine results in decreased expression of FZD7 mRNA	17403546
D000077288	Troglitazone	Troglitazone results in decreased expression of FZD7 mRNA	28973697
C080163	trovafloxacin	[trovafloxacin co-treated with lipopolysaccharide, E coli O55-B5] results in decreased expression of FZD7 mRNA	18930950
D014415	Tunicamycin	Tunicamycin results in decreased expression of FZD7 mRNA	22378314
D014520	Urethane	Urethane results in increased expression of FZD7 mRNA	28818685
C406224	valdecoxib	valdecoxib results in increased expression of FZD7 mRNA	24136188
D014638	Vanadates	Vanadates results in increased expression of FZD7 mRNA	22714537
D024483	Vitamin K 3	Vitamin K 3 affects the expression of FZD7 mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0967	Endosome
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0832	Ubl conjugation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR042742	Frizzled-7_CRD
IPR015526	Frizzled/SFRP
IPR000539	Frizzled/Smoothened_TM
IPR020067	Frizzled_dom
IPR036790	Frizzled_dom_sf
IPR026552	FZD7
IPR017981	GPCR_2-like

PROSITE

PROSITE ID	PROSITE Term
PS50038	FZ
PS50261	G_PROTEIN_RECEP_F2_4

Pfam

Pfam ID	Pfam Term
PF01534	Frizzled
PF01392	Fz

Gene: FZD7

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

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction