CleftGeneDB-Search

Gene: FGF8

Basic information

Tag	Content
Uniprot ID	P55075; A1A514; Q14915; Q15766;
Entrez ID	2253
Genbank protein ID	AAB40955.1; AAC50783.1; AAC50782.1; EAW49746.1; AAB34255.1; AAM55238.1; AAI28236.1; AAB40953.1; AAC50785.1; AAB17894.1; AAB03787.1; BAA28605.1; AAB40954.1; BAA22527.1; AAB17893.1; AAC50784.1;
Genbank nucleotide ID	NM_033165.3; NM_033163.3; NM_006119.4; NM_033164.3;
Ensembl protein ID	ENSP00000321945; ENSP00000321797; ENSP00000344306; ENSP00000340039;
Ensembl nucleotide ID	ENSG00000107831
Gene name	Fibroblast growth factor 8
Gene symbol	FGF8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).
Sequence	MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQHVREQSLV 60 TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP FAKLIVETDT FGSRVRVRGA 120 ETGLYICMNK KGKLIAKSNG KGKDCVFTEI VLENNYTALQ NAKYEGWYMA FTRKGRPRKG 180 SKTRQHQREV HFMKRLPRGH HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR 233

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
2FDB

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF8	326284	F1N6G8			Bos taurus	Prediction	More>>
1:1 ortholog	FGF8		A0A452EXW2			Capra hircus	Prediction	More>>
1:1 ortholog	FGF8	2253	P55075			Homo sapiens	Prediction	More>>
1:1 ortholog	Fgf8	14179	P37237	CPO,CLP	E13.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	FGF8		H2Q2G4			Pan troglodytes	Prediction	More>>
1:1 ortholog	FGF8		A0A287B086			Sus scrofa	Prediction	More>>
1:1 ortholog	Fgf8	29349	Q76LI5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	fgf8a		A2CF52			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1395337720	p.Gly2Cys	missense variant	-	NC_000010.11:g.101775897C>A	gnomAD
rs1167692966	p.Gly2Asp	missense variant	-	NC_000010.11:g.101775896C>T	TOPMed,gnomAD
rs1395337720	p.Gly2Ser	missense variant	-	NC_000010.11:g.101775897C>T	gnomAD
rs1167692966	p.Gly2Val	missense variant	-	NC_000010.11:g.101775896C>A	TOPMed,gnomAD
rs1193891206	p.Ser3SerValArgCysValTerGluThrGly	stop gained	-	NC_000010.11:g.101775893_101775894insCTGTCTCTTATACACATCTGACGC	gnomAD
rs1441770973	p.Pro4Leu	missense variant	-	NC_000010.11:g.101775890G>A	gnomAD
rs1170351413	p.Arg5Pro	missense variant	-	NC_000010.11:g.101775887C>G	TOPMed
rs1476982198	p.Arg5Cys	missense variant	-	NC_000010.11:g.101775888G>A	TOPMed
rs1430177564	p.Ser6Cys	missense variant	-	NC_000010.11:g.101775884G>C	gnomAD
rs1407510754	p.Ala7Val	missense variant	-	NC_000010.11:g.101775881G>A	TOPMed
rs1395687641	p.Ala7Thr	missense variant	-	NC_000010.11:g.101775882C>T	TOPMed
rs1274243943	p.Ala7ValGlySerValArgCysValTerGluThrGlyUnk	stop gained	-	NC_000010.11:g.101775882_101775883insCTGTCTCTTATACACATCTGACGCTGCCGAC	gnomAD
rs1341984861	p.Leu8Arg	missense variant	-	NC_000010.11:g.101775878A>C	gnomAD
rs1271282337	p.Cys10Ser	missense variant	-	NC_000010.11:g.101775873A>T	gnomAD
rs780259162	p.Leu13Val	missense variant	-	NC_000010.11:g.101775772A>C	ExAC,gnomAD
rs948801248	p.Leu13Trp	missense variant	-	NC_000010.11:g.101775771A>C	TOPMed,gnomAD
rs137852659	p.His14Asn	missense variant	-	NC_000010.11:g.101775769G>T	-
rs137852659	p.His14Asn	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775769G>T	UniProt,dbSNP
VAR_057962	p.His14Asn	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775769G>T	UniProt
rs1216137645	p.His14Pro	missense variant	-	NC_000010.11:g.101775768T>G	TOPMed
RCV000030886	p.His14Asn	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101775769G>T	ClinVar
rs1467459536	p.Leu16Val	missense variant	-	NC_000010.11:g.101775763G>C	TOPMed,gnomAD
rs1467459536	p.Leu16Met	missense variant	-	NC_000010.11:g.101775763G>T	TOPMed,gnomAD
rs1275593194	p.Val17Ile	missense variant	-	NC_000010.11:g.101775760C>T	gnomAD
rs1329087018	p.Leu18Ile	missense variant	-	NC_000010.11:g.101775757G>T	gnomAD
rs921814082	p.Leu20Arg	missense variant	-	NC_000010.11:g.101775750A>C	TOPMed,gnomAD
rs921814082	p.Leu20His	missense variant	-	NC_000010.11:g.101775750A>T	TOPMed,gnomAD
rs1375025822	p.Ala22Ser	missense variant	-	NC_000010.11:g.101775745C>A	gnomAD
rs1279824419	p.Gln23Arg	missense variant	-	NC_000010.11:g.101775741T>C	TOPMed,gnomAD
rs137852660	p.Pro26Leu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775209G>A	UniProt,dbSNP
VAR_057963	p.Pro26Leu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775209G>A	UniProt
rs137852660	p.Pro26Leu	missense variant	-	NC_000010.11:g.101775209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000239300	p.Pro26Leu	missense variant	-	NC_000010.11:g.101775209G>A	ClinVar
rs1429510876	p.Pro26Ala	missense variant	-	NC_000010.11:g.101775210G>C	gnomAD
RCV000767027	p.Pro26Leu	missense variant	-	NC_000010.11:g.101775209G>A	ClinVar
rs199858724	p.Arg28Ser	missense variant	-	NC_000010.11:g.101775202C>A	ESP,ExAC,TOPMed,gnomAD
rs1413742406	p.Pro30Leu	missense variant	-	NC_000010.11:g.101775197G>A	gnomAD
rs544494562	p.Ala31Val	missense variant	-	NC_000010.11:g.101775194G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544494562	p.Ala31Glu	missense variant	-	NC_000010.11:g.101775194G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1259170786	p.Gly33Ser	missense variant	-	NC_000010.11:g.101775189C>T	gnomAD
rs771618872	p.Gly33Val	missense variant	-	NC_000010.11:g.101775188C>A	ExAC,TOPMed,gnomAD
rs1480112204	p.Arg34Lys	missense variant	-	NC_000010.11:g.101775185C>T	gnomAD
COSM1561004	p.Leu36Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101775180G>T	NCI-TCGA Cosmic
rs749761471	p.Ala37Pro	missense variant	-	NC_000010.11:g.101775177C>G	ExAC,TOPMed,gnomAD
rs749761471	p.Ala37Thr	missense variant	-	NC_000010.11:g.101775177C>T	ExAC,TOPMed,gnomAD
rs137852661	p.Phe40Leu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775168A>G	UniProt,dbSNP
VAR_057964	p.Phe40Leu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775168A>G	UniProt
rs137852661	p.Phe40Leu	missense variant	-	NC_000010.11:g.101775168A>G	-
RCV000030887	p.Phe40Leu	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101775168A>G	ClinVar
rs776130344	p.Arg41Gln	missense variant	-	NC_000010.11:g.101775164C>T	ExAC,TOPMed
rs770042960	p.Ala42Gly	missense variant	-	NC_000010.11:g.101775161G>C	ExAC,gnomAD
rs781205876	p.Arg44Trp	missense variant	-	NC_000010.11:g.101775156G>A	ExAC,TOPMed,gnomAD
RCV000656428	p.Arg44Trp	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101775156G>A	ClinVar
rs1293990615	p.Arg44Gln	missense variant	-	NC_000010.11:g.101775155C>T	gnomAD
rs1390982549	p.Glu45Asp	missense variant	-	NC_000010.11:g.101775151C>A	gnomAD
rs1371482909	p.Gln47His	missense variant	-	NC_000010.11:g.101775145C>G	gnomAD
rs1456334435	p.Gln52Arg	missense variant	-	NC_000010.11:g.101775131T>C	TOPMed
rs1252084221	p.Glu56Gln	missense variant	-	NC_000010.11:g.101774870C>G	gnomAD
rs1474057032	p.Thr61Met	missense variant	-	NC_000010.11:g.101774854G>A	TOPMed
COSM4822908	p.Gln63Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.101774849G>A	NCI-TCGA Cosmic
rs184500788	p.Leu64Phe	missense variant	-	NC_000010.11:g.101774846G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1358184628	p.Ser65Arg	missense variant	-	NC_000010.11:g.101774841G>T	TOPMed
rs1204612800	p.Arg67His	missense variant	-	NC_000010.11:g.101774836C>T	gnomAD
NCI-TCGA novel	p.Arg67Cys	missense variant	-	NC_000010.11:g.101774837G>A	NCI-TCGA
rs777079870	p.Ile69Val	missense variant	-	NC_000010.11:g.101774831T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr71Ser	missense variant	-	NC_000010.11:g.101774825T>A	NCI-TCGA
rs375117193	p.Tyr72His	missense variant	-	NC_000010.11:g.101774822A>G	ESP,ExAC,gnomAD
rs1554834876	p.Ser76Arg	missense variant	-	NC_000010.11:g.101774808G>C	-
RCV000503695	p.Ser76Arg	missense variant	-	NC_000010.11:g.101774808G>C	ClinVar
rs748261973	p.Thr78Ile	missense variant	-	NC_000010.11:g.101774803G>A	ExAC,TOPMed,gnomAD
rs1382060873	p.Gly80Glu	missense variant	-	NC_000010.11:g.101774797C>T	gnomAD
rs1171493759	p.Gln84Arg	missense variant	-	NC_000010.11:g.101774785T>C	gnomAD
RCV000419587	p.Val85Asp	missense variant	-	NC_000010.11:g.101774782A>T	ClinVar
rs1057524676	p.Val85Asp	missense variant	-	NC_000010.11:g.101774782A>T	-
rs537681304	p.Leu86Pro	missense variant	-	NC_000010.11:g.101774779A>G	1000Genomes,ExAC,gnomAD
rs137852662	p.Lys89Glu	missense variant	-	NC_000010.11:g.101774771T>C	-
rs137852662	p.Lys89Glu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101774771T>C	UniProt,dbSNP
VAR_057965	p.Lys89Glu	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101774771T>C	UniProt
RCV000030888	p.Lys89Glu	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101774771T>C	ClinVar
rs1445221357	p.Arg90Leu	missense variant	-	NC_000010.11:g.101774767C>A	TOPMed,gnomAD
rs767171479	p.Arg90Ser	missense variant	-	NC_000010.11:g.101774768G>T	ExAC,gnomAD
rs1445221357	p.Arg90His	missense variant	-	NC_000010.11:g.101774767C>T	TOPMed,gnomAD
rs761163547	p.Asn92Tyr	missense variant	-	NC_000010.11:g.101774762T>A	ExAC,gnomAD
COSM914058	p.Asn92Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101774760G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn92Asp	missense variant	-	NC_000010.11:g.101774762T>C	NCI-TCGA
rs765613892	p.Met94Val	missense variant	-	NC_000010.11:g.101774756T>C	ExAC,TOPMed,gnomAD
rs765613892	p.Met94Leu	missense variant	-	NC_000010.11:g.101774756T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met94Ile	missense variant	-	NC_000010.11:g.101774754C>A	NCI-TCGA
rs876661328	p.Ala95Glu	missense variant	-	NC_000010.11:g.101774752G>T	-
RCV000223804	p.Ala95Glu	missense variant	-	NC_000010.11:g.101774752G>T	ClinVar
rs1278519475	p.Glu96Lys	missense variant	-	NC_000010.11:g.101774750C>T	gnomAD
rs1213447388	p.Glu96Gly	missense variant	-	NC_000010.11:g.101774749T>C	gnomAD
NCI-TCGA novel	p.Glu96Gln	missense variant	-	NC_000010.11:g.101774750C>G	NCI-TCGA
rs760069691	p.Asp97Glu	missense variant	-	NC_000010.11:g.101774745G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly98Ser	missense variant	-	NC_000010.11:g.101774744C>T	NCI-TCGA
rs1328732578	p.Pro100His	missense variant	-	NC_000010.11:g.101774737G>T	gnomAD
rs777322506	p.Pro100Ser	missense variant	-	NC_000010.11:g.101774738G>A	ExAC,gnomAD
rs369110952	p.Phe101Leu	missense variant	-	NC_000010.11:g.101774733G>C	ESP,ExAC,TOPMed,gnomAD
rs369110952	p.Phe101Leu	missense variant	-	NC_000010.11:g.101774733G>T	ESP,ExAC,TOPMed,gnomAD
rs1473226986	p.Ile105Val	missense variant	-	NC_000010.11:g.101771561T>C	gnomAD
rs774503381	p.Val106Met	missense variant	-	NC_000010.11:g.101771558C>T	ExAC,TOPMed,gnomAD
rs774503381	p.Val106Leu	missense variant	-	NC_000010.11:g.101771558C>A	ExAC,TOPMed,gnomAD
rs876661329	p.Thr108Met	missense variant	-	NC_000010.11:g.101771551G>A	-
RCV000223893	p.Thr108Met	missense variant	-	NC_000010.11:g.101771551G>A	ClinVar
RCV000661903	p.Thr108Met	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771551G>A	ClinVar
rs1213544634	p.Gly112Arg	missense variant	-	NC_000010.11:g.101771540C>T	gnomAD
NCI-TCGA novel	p.Gly112Val	missense variant	-	NC_000010.11:g.101771539C>A	NCI-TCGA
rs749382906	p.Val115Ile	missense variant	-	NC_000010.11:g.101771531C>T	ExAC,gnomAD
rs779901890	p.Arg116Gln	missense variant	-	NC_000010.11:g.101771527C>T	ExAC,gnomAD
rs137852663	p.Arg116Gly	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101771528G>C	UniProt,dbSNP
VAR_057966	p.Arg116Gly	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101771528G>C	UniProt
rs137852663	p.Arg116Gly	missense variant	-	NC_000010.11:g.101771528G>C	TOPMed,gnomAD
RCV000009695	p.Arg116Gly	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101771528G>C	ClinVar
RCV000735418	p.Arg116Ter	nonsense	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101771528G>A	ClinVar
rs769756528	p.Arg118Gln	missense variant	-	NC_000010.11:g.101771521C>T	ExAC,gnomAD
rs876661330	p.Arg118Ter	stop gained	-	NC_000010.11:g.101771522G>A	gnomAD
RCV000223728	p.Arg118Ter	nonsense	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771522G>A	ClinVar
rs1439746417	p.Ala120Thr	missense variant	-	NC_000010.11:g.101771516C>T	gnomAD
rs781019978	p.Glu121Lys	missense variant	-	NC_000010.11:g.101771513C>T	ExAC,TOPMed,gnomAD
rs61730334	p.Thr122Arg	missense variant	-	NC_000010.11:g.101771509G>C	gnomAD
rs61730334	p.Thr122Met	missense variant	-	NC_000010.11:g.101771509G>A	gnomAD
RCV000656425	p.Thr122Met	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771509G>A	ClinVar
rs746673772	p.Gly123Asp	missense variant	-	NC_000010.11:g.101771506C>T	ExAC
rs575711617	p.Tyr125Phe	missense variant	-	NC_000010.11:g.101771500T>A	1000Genomes,ExAC,gnomAD
COSM415195	p.Ile126Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771496G>C	NCI-TCGA Cosmic
COSM1317496	p.Cys127Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771494C>T	NCI-TCGA Cosmic
rs752284353	p.Met128Val	missense variant	-	NC_000010.11:g.101771492T>C	ExAC,gnomAD
COSM415196	p.Met128Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771490C>T	NCI-TCGA Cosmic
rs201793069	p.Lys130Asn	missense variant	-	NC_000010.11:g.101771484C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu134Pro	missense variant	-	NC_000010.11:g.101771473A>G	NCI-TCGA
rs767919104	p.Ile135Met	missense variant	-	NC_000010.11:g.101771469G>C	ExAC,TOPMed,gnomAD
rs904069647	p.Ala136Thr	missense variant	-	NC_000010.11:g.101771468C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser138Ile	missense variant	-	NC_000010.11:g.101770618C>A	NCI-TCGA
rs746765787	p.Asn139Asp	missense variant	-	NC_000010.11:g.101770616T>C	ExAC,gnomAD
rs772856803	p.Asn139Lys	missense variant	-	NC_000010.11:g.101770614G>T	ExAC,gnomAD
RCV000128828	p.Gly140Ser	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770613C>T	ClinVar
rs606231407	p.Gly140Ser	missense variant	-	NC_000010.11:g.101770613C>T	ExAC,gnomAD
rs778764638	p.Gly142Asp	missense variant	-	NC_000010.11:g.101770606C>T	ExAC,TOPMed,gnomAD
rs139565972	p.Val146Phe	missense variant	-	NC_000010.11:g.101770595C>A	ESP,ExAC,TOPMed,gnomAD
rs139565972	p.Val146Ile	missense variant	-	NC_000010.11:g.101770595C>T	ESP,ExAC,TOPMed,gnomAD
RCV000656423	p.Val146Phe	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770595C>A	ClinVar
rs150575389	p.Thr148Met	missense variant	-	NC_000010.11:g.101770588G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu149Asp	missense variant	-	NC_000010.11:g.101770584C>A	NCI-TCGA
rs1367620386	p.Val151Leu	missense variant	-	NC_000010.11:g.101770580C>A	TOPMed
rs1186700485	p.Glu153Lys	missense variant	-	NC_000010.11:g.101770574C>T	gnomAD
rs1322823531	p.Asn155Lys	missense variant	-	NC_000010.11:g.101770566G>T	TOPMed
rs778082287	p.Asn155Ser	missense variant	-	NC_000010.11:g.101770567T>C	ExAC,gnomAD
RCV000656427	p.Asn155Ser	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770567T>C	ClinVar
COSM3433672	p.Ala158Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101770558G>A	NCI-TCGA Cosmic
rs1306822945	p.Gln160His	missense variant	-	NC_000010.11:g.101770551C>G	gnomAD
rs759549803	p.Lys163Asn	missense variant	-	NC_000010.11:g.101770542C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr164Cys	missense variant	-	NC_000010.11:g.101770540T>C	NCI-TCGA
rs201979353	p.Glu165Lys	missense variant	-	NC_000010.11:g.101770538C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1447358308	p.Tyr168Asn	missense variant	-	NC_000010.11:g.101770529A>T	TOPMed
rs1357635254	p.Tyr168Ter	stop gained	-	NC_000010.11:g.101770527G>T	gnomAD
NCI-TCGA novel	p.Ala170Val	missense variant	-	NC_000010.11:g.101770522G>A	NCI-TCGA
rs369967262	p.Arg173Cys	missense variant	-	NC_000010.11:g.101770514G>A	ESP,ExAC,TOPMed,gnomAD
rs761712063	p.Arg173His	missense variant	-	NC_000010.11:g.101770513C>T	ExAC,TOPMed,gnomAD
rs1466609464	p.Lys174Asn	missense variant	-	NC_000010.11:g.101770509C>A	gnomAD
NCI-TCGA novel	p.Gly175Asp	missense variant	-	NC_000010.11:g.101770507C>T	NCI-TCGA
rs138208879	p.Arg176Gln	missense variant	-	NC_000010.11:g.101770504C>T	ESP,ExAC,TOPMed,gnomAD
rs774080225	p.Arg176Trp	missense variant	-	NC_000010.11:g.101770505G>A	ExAC,gnomAD
rs377240055	p.Arg178His	missense variant	-	NC_000010.11:g.101770498C>T	ESP,TOPMed
rs1257891978	p.Arg178Cys	missense variant	-	NC_000010.11:g.101770499G>A	gnomAD
rs1480224305	p.Thr183Met	missense variant	-	NC_000010.11:g.101770483G>A	TOPMed,gnomAD
rs1480224305	p.Thr183Lys	missense variant	-	NC_000010.11:g.101770483G>T	TOPMed,gnomAD
rs548987968	p.Arg184Trp	missense variant	-	NC_000010.11:g.101770481G>A	1000Genomes,ExAC,gnomAD
rs1318539900	p.Arg184Gln	missense variant	-	NC_000010.11:g.101770480C>T	gnomAD
rs1231574123	p.His186Gln	missense variant	-	NC_000010.11:g.101770473G>C	gnomAD
rs753068830	p.Arg188His	missense variant	-	NC_000010.11:g.101770468C>T	ExAC,gnomAD
rs753068830	p.Arg188Pro	missense variant	-	NC_000010.11:g.101770468C>G	ExAC,gnomAD
rs770066142	p.Arg188Cys	missense variant	-	NC_000010.11:g.101770469G>A	ExAC,gnomAD
rs1391175985	p.Val190Ile	missense variant	-	NC_000010.11:g.101770463C>T	gnomAD
rs1333810364	p.His191Gln	missense variant	-	NC_000010.11:g.101770458G>T	gnomAD
rs755130209	p.Phe192Leu	missense variant	-	NC_000010.11:g.101770457A>G	ExAC,gnomAD
rs876661331	p.Arg195Gln	missense variant	-	NC_000010.11:g.101770447C>T	-
RCV000223812	p.Arg195Gln	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770447C>T	ClinVar
rs1324602839	p.Pro197Ser	missense variant	-	NC_000010.11:g.101770442G>A	gnomAD
rs766362194	p.Pro197Leu	missense variant	-	NC_000010.11:g.101770441G>A	ExAC,TOPMed,gnomAD
rs1418159217	p.Arg198Pro	missense variant	-	NC_000010.11:g.101770438C>G	TOPMed,gnomAD
rs367593833	p.Arg198Trp	missense variant	-	NC_000010.11:g.101770439G>A	ESP,ExAC,TOPMed,gnomAD
rs1418159217	p.Arg198Gln	missense variant	-	NC_000010.11:g.101770438C>T	TOPMed,gnomAD
rs1405458381	p.Gly199Asp	missense variant	-	NC_000010.11:g.101770435C>T	gnomAD
rs1180309083	p.His200Gln	missense variant	-	NC_000010.11:g.101770431G>C	TOPMed,gnomAD
RCV000501421	p.His200Ter	frameshift	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770437_101770438dup	ClinVar
rs761660781	p.His201Gln	missense variant	-	NC_000010.11:g.101770428G>T	ExAC,gnomAD
rs1053073612	p.Thr202Ala	missense variant	-	NC_000010.11:g.101770427T>C	TOPMed,gnomAD
rs1252351111	p.Thr202Asn	missense variant	-	NC_000010.11:g.101770426G>T	TOPMed,gnomAD
rs1252351111	p.Thr202Ile	missense variant	-	NC_000010.11:g.101770426G>A	TOPMed,gnomAD
rs1211886346	p.Thr203Ala	missense variant	-	NC_000010.11:g.101770424T>C	gnomAD
rs768621428	p.Glu204Lys	missense variant	-	NC_000010.11:g.101770421C>T	ExAC,TOPMed,gnomAD
rs1368630910	p.Ser206Thr	missense variant	-	NC_000010.11:g.101770414C>G	TOPMed,gnomAD
rs1459130163	p.Ser206Gly	missense variant	-	NC_000010.11:g.101770415T>C	TOPMed,gnomAD
rs1238533333	p.Leu207Pro	missense variant	-	NC_000010.11:g.101770411A>G	gnomAD
rs138682882	p.Arg208Ser	missense variant	-	NC_000010.11:g.101770409G>T	ESP,ExAC,TOPMed,gnomAD
rs769174862	p.Arg208His	missense variant	-	NC_000010.11:g.101770408C>T	ExAC,gnomAD
rs138682882	p.Arg208Cys	missense variant	-	NC_000010.11:g.101770409G>A	ESP,ExAC,TOPMed,gnomAD
rs745400628	p.Phe209Leu	missense variant	-	NC_000010.11:g.101770404G>C	ExAC,gnomAD
rs1370886145	p.Glu210Lys	missense variant	-	NC_000010.11:g.101770403C>T	gnomAD
rs772602922	p.Pro215Leu	missense variant	-	NC_000010.11:g.101770387G>A	ExAC,gnomAD
COSM3806318	p.Pro215Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101770388G>A	NCI-TCGA Cosmic
rs1293627483	p.Phe217Cys	missense variant	-	NC_000010.11:g.101770381A>C	gnomAD
rs137852664	p.Thr218Lys	missense variant	-	NC_000010.11:g.101770378G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137852664	p.Thr218Met	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101770378G>A	UniProt,dbSNP
VAR_057967	p.Thr218Met	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101770378G>A	UniProt
rs137852664	p.Thr218Met	missense variant	-	NC_000010.11:g.101770378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000009697	p.Thr218Met	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770378G>A	ClinVar
rs370899813	p.Arg219Cys	missense variant	-	NC_000010.11:g.101770376G>A	ESP,ExAC,TOPMed,gnomAD
rs1440146511	p.Arg219His	missense variant	-	NC_000010.11:g.101770375C>T	gnomAD
rs1394398993	p.Ser220Gly	missense variant	-	NC_000010.11:g.101770373T>C	gnomAD
rs1191598934	p.Ser220Arg	missense variant	-	NC_000010.11:g.101770371G>C	gnomAD
rs780335350	p.Arg222Cys	missense variant	-	NC_000010.11:g.101770367G>A	ExAC,TOPMed,gnomAD
rs756078879	p.Arg222His	missense variant	-	NC_000010.11:g.101770366C>T	ExAC,TOPMed,gnomAD
rs767513127	p.Gly223Ala	missense variant	-	NC_000010.11:g.101770363C>G	ExAC,TOPMed,gnomAD
rs767513127	p.Gly223Asp	missense variant	-	NC_000010.11:g.101770363C>T	ExAC,TOPMed,gnomAD
rs1217798504	p.Gly223Ser	missense variant	-	NC_000010.11:g.101770364C>T	TOPMed,gnomAD
rs1289650216	p.Ser224Asn	missense variant	-	NC_000010.11:g.101770360C>T	TOPMed
rs757239246	p.Gln225Lys	missense variant	-	NC_000010.11:g.101770358G>T	ExAC,gnomAD
rs1332207532	p.Thr227Asn	missense variant	-	NC_000010.11:g.101770351G>T	gnomAD
rs1301318493	p.Trp228Ter	stop gained	-	NC_000010.11:g.101770348C>T	gnomAD
rs1381209498	p.Trp228Cys	missense variant	-	NC_000010.11:g.101770347C>A	gnomAD
rs1299728031	p.Ala229Val	missense variant	-	NC_000010.11:g.101770345G>A	gnomAD
rs763794275	p.Ala229Ser	missense variant	-	NC_000010.11:g.101770346C>A	ExAC,gnomAD
rs1170621482	p.Glu231Gly	missense variant	-	NC_000010.11:g.101770339T>C	gnomAD
rs1374564961	p.Glu231Lys	missense variant	-	NC_000010.11:g.101770340C>T	TOPMed,gnomAD
rs1049735997	p.Pro232Ser	missense variant	-	NC_000010.11:g.101770337G>A	TOPMed,gnomAD
rs1049735997	p.Pro232Ala	missense variant	-	NC_000010.11:g.101770337G>C	TOPMed,gnomAD
rs774950983	p.Arg233Gly	missense variant	-	NC_000010.11:g.101770334G>C	ExAC,TOPMed,gnomAD
rs774950983	p.Arg233Ter	stop gained	-	NC_000010.11:g.101770334G>A	ExAC,TOPMed,gnomAD
rs746008415	p.Arg233Gln	missense variant	-	NC_000010.11:g.101770333C>T	ExAC,TOPMed,gnomAD
rs746008415	p.Arg233Leu	missense variant	-	NC_000010.11:g.101770333C>A	ExAC,TOPMed,gnomAD
rs1483322770	p.Ter234Glu	stop lost	-	NC_000010.11:g.101770331A>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003126	Anosmia	phenotype	BEFREE;HPO
C0003467	Anxiety	disease	HPO
C0003504	Aortic Valve Insufficiency	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008297	Choanal Atresia	disease	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	CTD_human
C0008925	Cleft Palate	disease	CTD_human
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE
C0010417	Cryptorchidism	disease	BEFREE;HPO
C0011581	Depressive disorder	disease	HPO
C0012236	DiGeorge Syndrome	disease	CTD_human;MGD
C0018418	Gynecomastia	disease	HPO
C0022735	Klinefelter Syndrome	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027708	Nephroblastoma	disease	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029453	Osteopenia	disease	HPO
C0029456	Osteoporosis	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0034012	Delayed Puberty	phenotype	HPO
C0039101	synovial sarcoma	disease	BEFREE
C0039685	Tetralogy of Fallot	disease	MGD
C0079541	Holoprosencephaly	disease	BEFREE;CLINVAR;GENOMICS_ENGLAND
C0149630	Bicuspid aortic valve	disease	BEFREE
C0151721	Testicular hypogonadism	disease	HPO
C0162809	Kallmann Syndrome	disease	BEFREE;CTD_human;ORPHANET
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0206718	Ganglioneuroblastoma	disease	BEFREE
C0220704	Shprintzen syndrome	disease	CTD_human
C0220748	Cartilage-hair hypoplasia	disease	BEFREE
C0221060	Mobius Syndrome	disease	BEFREE
C0232939	Primary physiologic amenorrhea	disease	HPO
C0232940	Secondary physiologic amenorrhea	disease	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0241355	Small testicle	phenotype	HPO
C0242343	Panhypopituitarism	disease	BEFREE
C0242350	Erectile dysfunction	disease	HPO
C0243050	Cardiovascular Abnormalities	group	CTD_human
C0265240	Goldenhar Syndrome	disease	BEFREE
C0266013	Congenital hypoplasia of breast	disease	HPO
C0266399	Infantile uterus	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	BEFREE;HPO
C0271578	Female hypogonadism syndrome	disease	HPO
C0271623	Hypogonadotropic hypogonadism	disease	BEFREE;HPO
C0338503	Septo-Optic Dysplasia	disease	BEFREE
C0342384	Idiopathic hypogonadotropic hypogonadism	disease	BEFREE;GENOMICS_ENGLAND
C0344232	Blurred vision	phenotype	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	BEFREE;CTD_human
C0399352	Developmental absence of tooth	disease	BEFREE
C0431362	Lobar Holoprosencephaly	disease	ORPHANET
C0431363	Alobar Holoprosencephaly	disease	ORPHANET
C0520927	Decreased fertility	phenotype	HPO
C0541764	Delayed bone age	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0700095	Central neuroblastoma	disease	BEFREE
C0747078	Generalized osteopenia	disease	HPO
C0750929	Arnold-Chiari Malformation, Type I	disease	BEFREE
C0751617	Semilobar Holoprosencephaly	disease	CLINVAR;ORPHANET
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0795898	Cleft Palate-Lateral Synechia Syndrome	disease	BEFREE
C0795907	CONOTRUNCAL ANOMALY FACE SYNDROME	disease	CTD_human
C0848558	Hypospadias	group	BEFREE;RGD
C0878500	Intraepithelial Neoplasia	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1328504	Hormone refractory prostate cancer	disease	BEFREE
C1334274	Invasive Carcinoma	phenotype	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1563719	Kallmann Syndrome 1	disease	CTD_human
C1563720	Kallmann Syndrome 2 (disorder)	disease	CTD_human
C1654637	androgen independent prostate cancer	disease	BEFREE
C1691215	Penile hypospadias	disease	BEFREE
C1709103	Myxoinflammatory fibroblastic sarcoma	disease	BEFREE
C1739363	Prostatic Hypertrophy	disease	BEFREE
C1827524	Wide spaced nipples	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1837218	Cleft palate, isolated	disease	CTD_human
C1846228	Absence of pubertal development	phenotype	HPO
C1860121	Decreased testosterone in males	phenotype	HPO
C1862863	Sparse body hair	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2364082	Sense of smell impaired	phenotype	BEFREE;HPO
C2674432	Reduced bone mineral density	phenotype	HPO
C2675188	Kallmann Syndrome 6	disease	CLINVAR
C2930927	Kallmann syndrome, type 3, recessive	disease	CTD_human
C2936346	22q11 Deletion Syndrome	disease	BEFREE;CTD_human
C2937421	Prostatic Hyperplasia	disease	BEFREE
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	BEFREE;HPO
C3495417	Hemifacial microsomia	disease	BEFREE
C3542024	AORTIC VALVE DISEASE 2	disease	BEFREE
C3552574	HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	disease	UNIPROT
C4020884	Anxiety disease	disease	HPO
C4021107	Non-obstructive azoospermia	disease	HPO
C4021551	Absence of secondary sex characteristics	phenotype	HPO
C4021776	Abnormality of the voice	phenotype	HPO
C4022003	Erectile abnormalities	phenotype	HPO
C4022675	Increased female libido	phenotype	HPO
C4022873	Small pituitary gland	phenotype	HPO
C4025569	Eunuchoid habitus	phenotype	HPO
C4025644	Hypothalamic gonadotropin-releasing hormone deficiency	phenotype	HPO
C4025821	Anterior hypopituitarism	disease	HPO
C4025901	Abnormality of body height	phenotype	HPO
C4054122	Rat Adrenal Gland Pheochromocytoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005104	fibroblast growth factor receptor binding	IEA
GO:0008083	growth factor activity	IEA
GO:0042056	chemoattractant activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0001656	metanephros development	IEP
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0001759	organ induction	IEA
GO:0001823	mesonephros development	IEP
GO:0001839	neural plate morphogenesis	IEA
GO:0001947	heart looping	IEA
GO:0001974	blood vessel remodeling	IEA
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0006979	response to oxidative stress	IEA
GO:0007369	gastrulation	NAS
GO:0008045	motor neuron axon guidance	IEA
GO:0008078	mesodermal cell migration	IEA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0008406	gonad development	IMP
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI
GO:0009653	anatomical structure morphogenesis	NAS
GO:0010628	positive regulation of gene expression	TAS
GO:0014070	response to organic cyclic compound	IEA
GO:0021543	pallium development	IEA
GO:0021544	subpallium development	IEA
GO:0021798	forebrain dorsal/ventral pattern formation	IEA
GO:0021846	cell proliferation in forebrain	IEA
GO:0021884	forebrain neuron development	IEA
GO:0023019	signal transduction involved in regulation of gene expression	IEA
GO:0030539	male genitalia development	IEA
GO:0030878	thyroid gland development	IEA
GO:0030916	otic vesicle formation	IEA
GO:0030917	midbrain-hindbrain boundary development	IEA
GO:0033563	dorsal/ventral axon guidance	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0035909	aorta morphogenesis	IEA
GO:0042476	odontogenesis	IEP
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042493	response to drug	IEA
GO:0043524	negative regulation of neuron apoptotic process	IEA
GO:0045165	cell fate commitment	IEA
GO:0045597	positive regulation of cell differentiation	TAS
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0045840	positive regulation of mitotic nuclear division	IEA
GO:0046622	positive regulation of organ growth	IEA
GO:0048853	forebrain morphogenesis	IEA
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050918	positive chemotaxis	IEA
GO:0051781	positive regulation of cell division	IEA
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0055026	negative regulation of cardiac muscle tissue development	IMP
GO:0060037	pharyngeal system development	IEA
GO:0060128	corticotropin hormone secreting cell differentiation	IEA
GO:0060129	thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060348	bone development	IMP
GO:0060425	lung morphogenesis	IEA
GO:0060445	branching involved in salivary gland morphogenesis	IEA
GO:0060563	neuroepithelial cell differentiation	IDA
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071542	dopaminergic neuron differentiation	IDA
GO:0071542	dopaminergic neuron differentiation	TAS
GO:0090134	cell migration involved in mesendoderm migration	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0009897	external side of plasma membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109704	PI3K Cascade	TAS
R-HSA-112399	IRS-mediated signalling	TAS
R-HSA-1226099	Signaling by FGFR in disease	TAS
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-168256	Immune System	TAS
R-HSA-1839122	Signaling by activated point mutants of FGFR1	TAS
R-HSA-1839124	FGFR1 mutant receptor activation	TAS
R-HSA-1839126	FGFR2 mutant receptor activation	TAS
R-HSA-1839130	Signaling by activated point mutants of FGFR3	TAS
R-HSA-190236	Signaling by FGFR	TAS
R-HSA-190239	FGFR3 ligand binding and activation	TAS
R-HSA-190241	FGFR2 ligand binding and activation	TAS
R-HSA-190242	FGFR1 ligand binding and activation	TAS
R-HSA-190322	FGFR4 ligand binding and activation	TAS
R-HSA-190371	FGFR3b ligand binding and activation	TAS
R-HSA-190372	FGFR3c ligand binding and activation	TAS
R-HSA-190373	FGFR1c ligand binding and activation	TAS
R-HSA-190375	FGFR2c ligand binding and activation	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	TAS
R-HSA-2033514	FGFR3 mutant receptor activation	TAS
R-HSA-2033519	Activated point mutants of FGFR2	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	TAS
R-HSA-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	TAS
R-HSA-2428924	IGF1R signaling cascade	TAS
R-HSA-2428928	IRS-related events triggered by IGF1R	TAS
R-HSA-5654219	Phospholipase C-mediated cascade: FGFR1	TAS
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2	TAS
R-HSA-5654227	Phospholipase C-mediated cascade; FGFR3	TAS
R-HSA-5654228	Phospholipase C-mediated cascade; FGFR4	TAS
R-HSA-5654687	Downstream signaling of activated FGFR1	TAS
R-HSA-5654688	SHC-mediated cascade:FGFR1	TAS
R-HSA-5654689	PI-3K cascade:FGFR1	TAS
R-HSA-5654693	FRS-mediated FGFR1 signaling	TAS
R-HSA-5654695	PI-3K cascade:FGFR2	TAS
R-HSA-5654696	Downstream signaling of activated FGFR2	TAS
R-HSA-5654699	SHC-mediated cascade:FGFR2	TAS
R-HSA-5654700	FRS-mediated FGFR2 signaling	TAS
R-HSA-5654704	SHC-mediated cascade:FGFR3	TAS
R-HSA-5654706	FRS-mediated FGFR3 signaling	TAS
R-HSA-5654708	Downstream signaling of activated FGFR3	TAS
R-HSA-5654710	PI-3K cascade:FGFR3	TAS
R-HSA-5654712	FRS-mediated FGFR4 signaling	TAS
R-HSA-5654716	Downstream signaling of activated FGFR4	TAS
R-HSA-5654719	SHC-mediated cascade:FGFR4	TAS
R-HSA-5654720	PI-3K cascade:FGFR4	TAS
R-HSA-5654726	Negative regulation of FGFR1 signaling	TAS
R-HSA-5654727	Negative regulation of FGFR2 signaling	TAS
R-HSA-5654732	Negative regulation of FGFR3 signaling	TAS
R-HSA-5654733	Negative regulation of FGFR4 signaling	TAS
R-HSA-5654736	Signaling by FGFR1	TAS
R-HSA-5654738	Signaling by FGFR2	TAS
R-HSA-5654741	Signaling by FGFR3	TAS
R-HSA-5654743	Signaling by FGFR4	TAS
R-HSA-5655253	Signaling by FGFR2 in disease	TAS
R-HSA-5655302	Signaling by FGFR1 in disease	TAS
R-HSA-5655332	Signaling by FGFR3 in disease	TAS
R-HSA-5658623	FGFRL1 modulation of FGFR1 signaling	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5673001	RAF/MAP kinase cascade	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	TAS
R-HSA-74751	Insulin receptor signalling cascade	TAS
R-HSA-74752	Signaling by Insulin receptor	TAS
R-HSA-8853338	Signaling by FGFR3 point mutants in cancer	TAS
R-HSA-9006925	Intracellular signaling by second messengers	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9607240	FLT3 Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 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 decreased expression of FGF8 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
C513003	5-(4-((6-(allyloxy)-2,5,7,8-tetramethylchroman-2-yl)methoxy)-3-methoxybenzylidene)thiazolidine-2,4-dione	5-(4-((6-(allyloxy)-2,5,7,8-tetramethylchroman-2-yl)methoxy)-3-methoxybenzylidene)thiazolidine-2,4-dione results in decreased expression of FGF8 mRNA	17409431
D000079	Acetaldehyde	Acetaldehyde affects the expression of FGF8 mRNA	22634333
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FGF8 intron	30157460
D000728	Androgens	Androgens results in increased expression of FGF8 protein	12404063
D000728	Androgens	Androgens results in increased expression of FGF8	12779088
D016590	Aphidicolin	Aphidicolin results in increased expression of FGF8 mRNA	29990529
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of FGF8 mRNA	29950665
C452139	BIRB 796	BIRB 796 results in decreased expression of FGF8 mRNA	24303162
C551172	bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV) results in increased expression of FGF8 mRNA	20162321
C006780	bisphenol A	bisphenol A results in decreased expression of FGF8 mRNA	22718145
C006780	bisphenol A	bisphenol A results in decreased expression of FGF8 mRNA	25181051
D002066	Busulfan	Busulfan results in decreased expression of FGF8 mRNA	15786497
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of FGF8	17707671
D002762	Cholecalciferol	Cholecalciferol results in decreased expression of FGF8 mRNA	16508948
C007076	citral	citral results in decreased expression of FGF8 mRNA	15581867
D005576	Colforsin	Colforsin results in increased activity of FGF8 protein	15193767
D003907	Dexamethasone	Dexamethasone results in decreased expression of FGF8 mRNA	28453788
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of FGF8 mRNA	29950665
D003913	Dextroamphetamine	Dextroamphetamine results in increased expression of FGF8 mRNA	12205029
D003913	Dextroamphetamine	SOD1 inhibits the reaction [Dextroamphetamine results in increased expression of FGF8 mRNA]	12205029
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FGF8 mRNA	19464577; 22273727; 26948521;
D004041	Dietary Fats	Dietary Fats results in increased expression of FGF8 mRNA	25016146
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of FGF8 mRNA	29990529
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 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 decreased expression of FGF8 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of FGF8 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
D004958	Estradiol	[BMP15 protein co-treated with GDF9 protein] promotes the reaction [FGF8 protein inhibits the reaction [FSHB protein results in increased abundance of Estradiol]]	22366471
D004958	Estradiol	GDF9 protein promotes the reaction [FGF8 protein inhibits the reaction [FSHB protein results in increased abundance of Estradiol]]	22366471
D004958	Estradiol	FGF8 protein inhibits the reaction [FSHB protein results in increased abundance of Estradiol]	22366471
D000431	Ethanol	Ethanol results in decreased expression of FGF8 mRNA	15108242
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FGF8 mRNA	23129252
D005419	Flavonoids	Flavonoids results in decreased expression of FGF8 mRNA	18035473
C061365	flusilazole	flusilazole affects the expression of FGF8 mRNA	22634333
D005485	Flutamide	Flutamide inhibits the reaction [Testosterone results in increased expression of FGF8 mRNA]	16723184
D005492	Folic Acid	Folic Acid inhibits the reaction [[GLI3 gene mutant form co-treated with ochratoxin A] results in increased expression of FGF8 mRNA]	17688467
D005839	Gentamicins	Gentamicins results in decreased expression of FGF8 mRNA	22061828
D006493	Heparin	Heparin binds to and results in increased activity of FGF8 protein alternative form	12077148
D006497	Heparitin Sulfate	Heparitin Sulfate binds to FGF8 protein alternative form	15769253
D006497	Heparitin Sulfate	Heparitin Sulfate analog results in increased activity of FGF8 protein	12460940
D006497	Heparitin Sulfate	Heparitin Sulfate analog binds to and results in increased activity of FGF8 protein alternative form	12077148
D006497	Heparitin Sulfate	Heparitin Sulfate analog binds to FGF8 protein	14707131
C409722	hexaconazole	hexaconazole results in decreased expression of FGF8 mRNA	22045034
D006918	Hydroxyurea	Hydroxyurea results in increased expression of FGF8 mRNA	29990529
D008727	Methotrexate	Methotrexate results in decreased expression of FGF8 mRNA	17400583
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FGF8 mRNA	21385734
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of FGF8 mRNA	20864626
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of FGF8 mRNA	19162170
D009151	Mustard Gas	IL10 protein affects the reaction [Mustard Gas affects the expression of FGF8 mRNA]	16173061
C025589	ochratoxin A	Folic Acid inhibits the reaction [[GLI3 gene mutant form co-treated with ochratoxin A] results in increased expression of FGF8 mRNA]	17688467
C025589	ochratoxin A	[GLI3 gene mutant form co-treated with ochratoxin A] results in increased expression of FGF8 mRNA	17688467
C025589	ochratoxin A	ochratoxin A promotes the reaction [GLI3 gene mutant form results in increased expression of FGF8 protein]	16922921
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 decreased expression of FGF8 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of FGF8 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of FGF8 mRNA	26272509
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of FGF8 mRNA	26272509
C029217	phenyl-N-tert-butylnitrone	phenyl-N-tert-butylnitrone inhibits the reaction [Thalidomide results in decreased expression of FGF8 mRNA]	12242718
D010795	Phthalic Acids	Phthalic Acids results in increased expression of FGF8 mRNA	22112501
D010936	Plant Extracts	Plant Extracts results in decreased expression of FGF8 mRNA	23557933
C045362	prochloraz	prochloraz results in decreased expression of FGF8 mRNA	21470553
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in increased expression of FGF8 mRNA	29990529
D000077185	Resveratrol	Resveratrol results in decreased expression of FGF8 mRNA	29990529
C105686	SU 5402	SU 5402 results in decreased activity of FGF8 protein	12618132
D013739	Testosterone	AR protein promotes the reaction [Testosterone results in increased expression of FGF8 protein]	12140757
D013739	Testosterone	Flutamide inhibits the reaction [Testosterone results in increased expression of FGF8 mRNA]	16723184
D013739	Testosterone	Testosterone results in increased expression of FGF8 mRNA	16723184
D013739	Testosterone	Testosterone results in increased expression of FGF8 protein	12140757
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FGF8 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FGF8 mRNA	21570461
D013792	Thalidomide	Thalidomide results in increased expression of FGF8 mRNA	30834740
D013792	Thalidomide	phenyl-N-tert-butylnitrone inhibits the reaction [Thalidomide results in decreased expression of FGF8 mRNA]	12242718
D013792	Thalidomide	Thalidomide results in decreased expression of FGF8 mRNA	12242718; 14713331;
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of FGF8 mRNA	29950665
D014212	Tretinoin	Tretinoin results in increased expression of FGF8 protein	16316642
D014212	Tretinoin	Tretinoin results in decreased expression of FGF8 mRNA	14527434
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of GFRA1 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of GLI1 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NEFL protein	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NEFM protein	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NR4A2 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NTRK1 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NTRK2 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of NTRK3 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of PTCH1 mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of RBFOX3 protein	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of SYP protein	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of TH mRNA	17085092
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of TH protein	17085092
D014212	Tretinoin	Tretinoin results in decreased expression of FGF8 mRNA	21934132
D014212	Tretinoin	CYP26A1 protein inhibits the reaction [Tretinoin results in decreased expression of FGF8 mRNA]	12588859
D014212	Tretinoin	Tretinoin results in decreased expression of FGF8 mRNA	12588859; 14623956;
D014212	Tretinoin	Tretinoin results in decreased expression of FGF8 protein	17551590
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FGF8 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of FGF8 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of FGF8 mRNA	30510588
D014635	Valproic Acid	Valproic Acid affects the expression of FGF8 mRNA	25979313; 26072468;
D014635	Valproic Acid	Valproic Acid results in decreased expression of FGF8 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of FGF8 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased methylation of FGF8 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of FGF8 mRNA	26072468; 27693483;
D014635	Valproic Acid	Valproic Acid promotes the reaction [GLI3 gene mutant form affects the expression of FGF8 mRNA]	16359493
D014635	Valproic Acid	Valproic Acid results in decreased expression of FGF8 mRNA	22045034
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of FGF8 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1016	Hypogonadotropic hypogonadism
KW-0956	Kallmann syndrome
KW-0497	Mitogen
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR028249	FGF8
IPR002209	Fibroblast_GF_fam
IPR008996	IL1/FGF

PROSITE

PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

Pfam

Pfam ID	Pfam Term
PF00167	FGF

Gene: FGF8

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