Details for Gene FGFR1

GENE NAME FGFR1
CHROMOSOME 8
ENSEMBL ID None
ENTREZ ID ENSG00000077782
UNIPROT ACCESSION NUMBER P11362
GO MOLECULAR FUNCTION ['identical protein binding', 'protein tyrosine kinase activity', 'ATP binding', 'fibroblast growth factor binding', 'receptor-receptor interaction', 'protein binding', 'heparin binding', 'protein homodimerization activity', 'protein serine/threonine/tyrosine kinase activity', 'fibroblast growth factor-activated receptor activity', 'transmembrane receptor protein tyrosine kinase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa04014; hsa04015; hsa04020; hsa04151; hsa04520; hsa04550; hsa04714; hsa04810; hsa04928; hsa05200; hsa05205; hsa05215; hsa05218; hsa05224; hsa05230; R-HSA-1226099; R-HSA-1643685; R-HSA-1839122; R-HSA-1839124; R-HSA-5655302; R-HSA-5663202; R-HSA-8853336
97 combinations linked to FGFR1 OLI1376; OLI909; OLI410; OLI391; OLI1272; OLI1302; OLI1597; OLI844; OLI1271; OLI199; OLI1430; OLI1429; OLI1107; OLI1413; OLI195; OLI835; OLI894; OLI1269; OLI1606; OLI019; OLI408; OLI1396; OLI1290; OLI036; OLI1559; OLI356; OLI456; OLI1350; OLI365; OLI374; OLI1603; OLI1267; OLI1349; OLI1592; OLI1339; OLI371; OLI1410; OLI1381; OLI1380; OLI196; OLI833; OLI392; OLI1106; OLI652; OLI689; OLI409; OLI779; OLI1394; OLI390; OLI389; OLI075; OLI1340; OLI373; OLI1274; OLI1356; OLI1161; OLI1393; OLI1322; OLI1105; OLI397; OLI1408; OLI1072; OLI1268; OLI1601; OLI1159; OLI1285; OLI1273; OLI1338; OLI1419; OLI1521; OLI197; OLI1392; OLI1403; OLI367; OLI1423; OLI554; OLI915; OLI421; OLI368; OLI372; OLI1402; OLI1336; OLI1399; OLI1382; OLI1428; OLI1564; OLI1296; OLI858; OLI204; OLI1593; OLI1594; OLI1348; OLI420; OLI198; OLI288; OLI1598; OLI375
92 variants linked to FGFR1 FGFR1:r.spl_site3, ; FGFR1:c.340-344delTTCTC, p.Phe114fs13; FGFR1:c.556C>G, p.Pro186Ala; FGFR1:c.165_171del, p.Arg56GlyfsTer45; FGFR1:c.748C>T, p.Arg250Trp; FGFR1:c.350A>G, p.Asn117Ser; FGFR1:c.716T>C, p.Ile239Thr; FGFR1:c.749G>A, p.Arg250Gln; FGFR1:p.Lys618Asn; FGFR1:c.1409G>T, p.Arg470Leu; FGFR1:p.Ala604Thr; FGFR1:c.2059_2060delGGinsAA, p.Gly687Asn; FGFR1:p.Trp190Ter; FGFR1:c.1042G>A, p.Gly348Arg; FGFR1:c.2075A>G, p.Glu692Gly; FGFR1:c.1447C>A, p.Pro483Thr; FGFR1:c.2008G>A, p.Glu670Lys; FGFR1:c.2165C>A, p.Pro722His; FGFR1:c.2172C>G, p.Asn724Lys; FGFR1:c.682T>G, p.Tyr228Asp; FGFR1:c.1025T>C, p.Leu342Ser; FGFR1:c.1864C>T, p.Arg622Ter; FGFR1:c.1553-2A>G, ; FGFR1:c.1755C>A, p.Tyr585Ter; FGFR1:c.2302G>T, p.Asp768Tyr; FGFR1:c.2292G>T, p.Gln764His; FGFR1:c.2233C>T, p.Pro745Ser; FGFR1:c.313C>T, p.Gln105Ter; FGFR1:c.2248delG, p.Glu750LysfsTer9; FGFR1:c.854C>G, p.Pro285Arg; FGFR1:c.119A>C, p.Asp40Ala; FGFR1:c.1065G>A, p.Trp355Ter; FGFR1:c.12G>T, p.Trp4Cys; FGFR1:p.Thr695Ile; FGFR1:c.702C>G, p.Tyr234Ter; FGFR1:c.1704+1G>A, ; FGFR1:c.1664-2A>C, ; FGFR1:c.1136G>A, p.Gly379Glu; FGFR1:c.1817C>A, p.Ala606Asp; FGFR1:c.289G>C, p.Gly97Arg; FGFR1:c.1418G>A, p.Arg473Glu; FGFR1:c.1211delT, p.Leu404ArgfsTer27; FGFR1:c.464_465delTC, p.Leu155ProfsTer6; FGFR1:c.834dup, p.Val279ArgfsTer24; FGFR1:c.841C>T, ; FGFR1:c.853C>T, p.Arg285Trp; FGFR1:c.156G>C, p.Gln52His; FGFR1:c.1829G>T, p.Gly610Val; FGFR1:c.748C>T, p.Arg250Trp; FGFR1:c.760C>T, p.Arg254Trp; FGFR1:c.1042G>A, p.Gly348Arg; FGFR1:c.2200C>T, p.Arg734Trp; FGFR1:c.165_171dup, p.Arg58SerfsTer55; FGFR1:c.888T>A, p.Asn296Lys; FGFR1:c.1368G>A, p.Met456Ile; FGFR1:c.263T>G, p.Val88Gly; FGFR1:c.533G>A, p.Cys178Tyr; FGFR1:c.838+3A>T, ; FGFR1:c.801C>G, p.Tyr267Ter; FGFR1:c.1034_c, p.Ser345CysfsTer54; FGFR1:c.1439T>G, p.Leu480Ter; FGFR1:c.238C>T, p.Arg80Cys; FGFR1:c.142G>A, p.Gly48Ser; FGFR1:c.-55A>G, ; FGFR1:c.1825-30G>A, ; FGFR1:c.1037_1038delCT, p.Ser346TyrfsTer61; FGFR1:c.1916T>C, p.Ile639Thr; FGFR1:c.1279G>T, p.Val427Leu; FGFR1:c.1809C>A, p.Cys603Ter; FGFR1:c.374C>T, p.Ser125Leu; FGFR1:c.2107G>C, p.Gly703Arg; FGFR1:c.1285-2A>G, ; FGFR1:c.304G>A, p.Val102Ile; FGFR1:c.1854G>T, p.Lys618Asn; FGFR1:c.1016A>G, p.Tyr339Cys; FGFR1:c.5C>T, p.Ala2Val; FGFR1:c.710G>A, p.Gly237Asp; FGFR1:c.1097C>T, p.Pro366Leu; FGFR1:c.2241C>A, p.Phe747Leu; FGFR1:c.2302G>C, p.Asp768His; FGFR1:c.764C>T, p.Pro255Leu; FGFR1:c.1727_1734del, p.Arg576ProfsTer77; FGFR1:c.2057T>C, p.Phe686Ser; FGFR1:c.211G>A, p.Val71Met; FGFR1:c.1960G>T, p.Asp654Tyr; FGFR1:c.659G>A, p.Arg220His; FGFR1:c.232C>T, p.Arg78Cys; FGFR1:c.1430+1delG, ; FGFR1:c.1961dupA, p.Tyr654Ter; FGFR1:c.622-1G>T, ; FGFR1:c.1093_1094dupAG, p.Pro366fs; FGFR1:c.1306_1307dupTC, p.Met437fs
12 diseases linked to FGFR1 Schizophrenia; 46,XY disorder of sex development; Congenital hypogonadotropic hypogonadism; Syndrome with 46,XY disorder of sex development; Isolated congenital hypogonadotropic hypogonadism; Isolated congenital anosmia; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Kallmann syndrome; Rare congenital non-syndromic heart malformation
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