Entrez Gene

Basic Information
Gene ID	8087
Name	FXR1
Synonymous	fragile X mental retardation, autosomal homolog 1;FXR1;fragile X mental retardation, autosomal homolog 1
Definition	fragile X mental retardation syndrome-related protein 1\|hFXR1p
Position	3q28
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1233G>A; p.T411T; 3:180968085-180968085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1763G>C; p.G588A; 3:180976189-180976189	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1308T>A; p.R436R; 3:180968160-180968160	kidney	other; neoplasm	Substitution - coding silent
c.1544C>T; p.A515V; 3:180970299-180970299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298G>A; p.R433Q; 3:180968150-180968150	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.817A>C; p.K273Q; 3:180953777-180953777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.802-1G>A; p.?; 3:180953761-180953761	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.143G>T; p.R48I; 3:180935176-180935176	oesophagus	carcinoma	Substitution - Missense
c.205T>G; p.S69A; 3:180947871-180947871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 3:180912687-180912687	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1627_1628delAG; p.R543fs*2; 3:180975336-180975337	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1594A>C; p.N532H; 3:180970349-180970349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1224C>T; p.P408P; 3:180968076-180968076	breast	carcinoma	Substitution - coding silent
c.1322G>A; p.R441H; 3:180968174-180968174	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.877G>A; p.V293I; 3:180953837-180953837	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.894A>G; p.G298G; 3:180957832-180957832	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.699A>G; p.A233A; 3:180951366-180951366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168C>T; p.R390C; 3:180963060-180963060	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>T; p.G426*; 3:180968128-180968128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1291G>T; p.D431Y; 3:180968143-180968143	liver	carcinoma	Substitution - Missense
c.27C>T; p.R9R; 3:180912712-180912712	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.585G>T; p.K195N; 3:180949298-180949298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1282G>A; p.D428N; 3:180968134-180968134	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523G>T; p.E175*; 3:180949236-180949236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.948_949GA>TT; p.R317*; 3:180957886-180957887	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1022A>C; p.K341T; 3:180961499-180961499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1666G>T; p.E556*; 3:180975375-180975375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1615G>T; p.D539Y; 3:180975324-180975324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1191C>T; p.S397S; 3:180963083-180963083	liver	carcinoma	Substitution - coding silent
c.1150A>G; p.S384G; 3:180963042-180963042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1191C>T; p.S397S; 3:180963083-180963083	liver	carcinoma	Substitution - coding silent
c.1032T>C; p.I344I; 3:180961509-180961509	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1307G>A; p.R436H; 3:180968159-180968159	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.13A>G; p.T5A; 3:180912698-180912698	liver	carcinoma	Substitution - Missense
c.1554G>C; p.M518I; 3:180970309-180970309	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1586T>C; p.V529A; 3:180970341-180970341	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1568A>C; p.E523A; 3:180970323-180970323	liver	carcinoma	Substitution - Missense
c.1230A>C; p.E410D; 3:180968082-180968082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990C>A; p.D330E; 3:180957928-180957928	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.692G>A; p.G231D; 3:180951359-180951359	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1421G>A; p.S474N; 3:180970176-180970176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686T>G; p.L229*; 3:180951353-180951353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421G>A; p.S474N; 3:180970176-180970176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1745G>A; p.G582D; 3:180976171-180976171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990+1G>A; p.?; 3:180957929-180957929	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1745G>A; p.G582D; 3:180976171-180976171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1091T>C; p.L364P; 3:180962896-180962896	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>A; p.G277S; 3:180953789-180953789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1654A>C; p.N552H; 3:180975363-180975363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>C; p.K83T; 3:180947914-180947914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.775A>G; p.T259A; 3:180951442-180951442	liver	carcinoma	Substitution - Missense
c.775A>G; p.T259A; 3:180951442-180951442	liver	carcinoma	Substitution - Missense
c.1349C>T; p.S450L; 3:180968201-180968201	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.29G>T; p.G10V; 3:180912714-180912714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1217C>T; p.S406F; 3:180968069-180968069	skin	malignant_melanoma	Substitution - Missense
c.1175G>A; p.G392E; 3:180963067-180963067	skin	malignant_melanoma	Substitution - Missense
c.513+6A>G; p.?; 3:180948820-180948820	liver	carcinoma	Unknown
c.864T>A; p.V288V; 3:180953824-180953824	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.697G>A; p.A233T; 3:180951364-180951364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.A233T; 3:180951364-180951364	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1340G>T; p.R447I; 3:180968192-180968192	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.119G>A; p.R40H; 3:180935152-180935152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.891T>C; p.I297I; 3:180957829-180957829	stomach	adenocarcinoma	Substitution - coding silent
c.1094G>C; p.R365T; 3:180962899-180962899	breast	carcinoma	Substitution - Missense
c.834C>T; p.F278F; 3:180953794-180953794	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513C>T; p.R505W; 3:180970268-180970268	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1062T>C; p.H354H; 3:180961539-180961539	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1513C>T; p.R505W; 3:180970268-180970268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1743C>T; p.N581N; 3:180976169-180976169	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.436G>A; p.A146T; 3:180948737-180948737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.943C>T; p.R315*; 3:180957881-180957881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.48C>T; p.Y16Y; 3:180912733-180912733	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.650C>T; p.A217V; 3:180951317-180951317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1289G>A; p.R430Q; 3:180968141-180968141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1182T>C; p.N394N; 3:180963074-180963074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.786C>A; p.F262L; 3:180951453-180951453	breast	carcinoma	Substitution - Missense
c.1837G>C; p.E613Q; 3:180976263-180976263	breast	carcinoma	Substitution - Missense
c.698C>T; p.A233V; 3:180951365-180951365	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.G520R; 3:180970313-180970313	skin	malignant_melanoma	Substitution - Missense
c.38G>T; p.G13V; 3:180912723-180912723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.957A>G; p.E319E; 3:180957895-180957895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.916G>C; p.E306Q; 3:180957854-180957854	breast	carcinoma	Substitution - Missense
c.569G>A; p.R190Q; 3:180949282-180949282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239T>G; p.S413S; 3:180968091-180968091	breast	carcinoma	Substitution - coding silent
c.363_364insA; p.N124fs*5; 3:180948439-180948440	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.363_364insA; p.N124fs*5; 3:180948439-180948440	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.363_364insA; p.N124fs*5; 3:180948439-180948440	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1628G>A; p.R543K; 3:180975337-180975337	breast	carcinoma	Substitution - Missense
c.1631C>A; p.A544D; 3:180975340-180975340	bone; femur	chondrosarcoma	Substitution - Missense
c.885A>G; p.K295K; 3:180957823-180957823	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1228_1229insA; p.T411fs*4; 3:180968080-180968081	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.272T>A; p.F91Y; 3:180948348-180948348	urinary_tract; bladder	carcinoma	Substitution - Missense
c.514-2A>T; p.?; 3:180949225-180949225	lung	carcinoma; adenocarcinoma	Unknown
c.1153G>A; p.G385R; 3:180963045-180963045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1808T>A; p.I603N; 3:180976234-180976234	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.417G>T; p.E139D; 3:180948493-180948493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1388_1391delCCTC; p.I465fs*52; 3:180968240-180968243	breast	carcinoma	Deletion - Frameshift
c.344T>A; p.V115D; 3:180948420-180948420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1126C>T; p.R376*; 3:180962931-180962931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1364G>A; p.R455H; 3:180968216-180968216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1411G>T; p.D471Y; 3:180970166-180970166	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1411G>T; p.D471Y; 3:180970166-180970166	large_intestine; colon	carcinoma	Substitution - Missense
c.1145C>T; p.S382F; 3:180963037-180963037	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.109C>T; p.Q37*; 3:180935142-180935142	pancreas	carcinoma	Substitution - Nonsense
c.165delA; p.E58fs*8; 3:180935198-180935198	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.165delA; p.E58fs*8; 3:180935198-180935198	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.165delA; p.E58fs*8; 3:180935198-180935198	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1319G>T; p.R440I; 3:180968171-180968171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1319G>T; p.R440I; 3:180968171-180968171	skin	malignant_melanoma	Substitution - Missense
c.876C>A; p.L292L; 3:180953836-180953836	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1186A>C; p.T396P; 3:180963078-180963078	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1407C>G; p.L469L; 3:180970162-180970162	breast	carcinoma	Substitution - coding silent
c.16G>T; p.V6L; 3:180912701-180912701	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.337C>T; p.R113W; 3:180948413-180948413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.198+2T>C; p.?; 3:180935233-180935233	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.932C>A; p.S311Y; 3:180957870-180957870	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.19G>T; p.E7*; 3:180912704-180912704	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.876C>T; p.L292L; 3:180953836-180953836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.372T>A; p.N124K; 3:180948448-180948448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	skin	malignant_melanoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.364delA; p.N124fs*14; 3:180948440-180948440	stomach	adenocarcinoma	Deletion - Frameshift
c.285A>C; p.E95D; 3:180948361-180948361	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1329A>T; p.G443G; 3:180968181-180968181	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.357A>G; p.K119K; 3:180948433-180948433	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.975A>G; p.K325K; 3:180957913-180957913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.577C>T; p.R193C; 3:180949290-180949290	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.816delA; p.K274fs*23; 3:180953776-180953776	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.301G>A; p.A101T; 3:180948377-180948377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.569G>T; p.R190L; 3:180949282-180949282	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]