| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3480 |
Name | IGF1R |
Synonymous | CD221|IGFIR|IGFR|JTK13;insulin-like growth factor 1 receptor;IGF1R;insulin-like growth factor 1 receptor |
Definition | IGF-I receptor|insulin-like growth factor I receptor|soluble IGF1R variant 1|soluble IGF1R variant 2 |
Position | 15q26.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for IGF1R | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
IGF1R_E21_UTR_3; chr15; 99504208 |
SUB; UTR_3; C; C/T; SOMATIC | HYPO; VALID; WGS |
IGF1R_E9_splice; chr15; 99459361 |
DEL; SPLICE; GTAAGGGTGCAGCAG; GTAAGGGTGCAGCAG/-; SOMATIC | RHB; VALID; WGS |
IGF1R_E9_splice; chr15; 99459361 |
DEL; SPLICE; GTAAGGGTGCAGCAG; GTAAGGGTGCAGCAG/-; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
IGF1R_E9_splice; chr15; 99459361 |
DEL; SPLICE; GTAAGGGTGCAGCAG; GTAAGGGTGCAGCAG/-; SOMATIC | RHB; PUTATIVE-HQ; WGS |
IGF1R_R437H; chr15; 99451976 |
SUB; MISSENSE; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
IGF1R_S1282I; chr15; 99500412 |
SUB; MISSENSE; G; G/T; SOMATIC | T-ALL; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2552A>T; p.K851M; |
liver | carcinoma; hepatocellular_carcinoma |
c.3616G>A; p.A1206T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3616G>A; p.A1206T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3965G>A; p.G1322E; |
liver | carcinoma; hepatocellular_carcinoma |
c.1454G>T; p.R485I; |
lung | carcinoma; small_cell_carcinoma |
c.3487A>G; p.T1163A; |
lung | carcinoma; small_cell_carcinoma |
c.3863C>T; p.P1288L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1092C>G; p.I364M; 15:97257647-97257647 |
lung | carcinoma; adenocarcinoma |
c.3765G>T; p.M1255I; 15:97317855-97317855 |
lung | carcinoma; adenocarcinoma |
c.2432A>T; p.E811V; |
liver | carcinoma; hepatocellular_carcinoma |
c.1565G>A; p.S522N; |
liver | carcinoma; hepatocellular_carcinoma |
c.1894A>G; p.N632D; |
liver | carcinoma; hepatocellular_carcinoma |
c.1499C>T; p.T500M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.541C>A; p.L181M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2752G>T; p.D918Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2827G>A; p.A943T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1538G>A; p.R513Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3145A>G; p.N1049D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3008G>A; p.R1003Q; |
pancreas | carcinoma; acinar_carcinoma |
c.1784G>A; p.R595H; |
large_intestine | carcinoma; adenocarcinoma |
c.1112C>A; p.A371D; |
large_intestine | carcinoma; adenocarcinoma |
c.3951C>T; p.P1317P; |
large_intestine | carcinoma; adenocarcinoma |
c.2035G>A; p.D679N; |
large_intestine | carcinoma; adenocarcinoma |
c.3908T>C; p.V1303A; |
large_intestine | carcinoma; adenocarcinoma |
c.3095T>C; p.I1032T; |
large_intestine | carcinoma; adenocarcinoma |
c.320G>A; p.R107H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1867T>A; p.S623T; |
oesophagus | carcinoma; adenocarcinoma |
c.373C>G; p.L125V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2573C>T; p.P858L; |
oesophagus | carcinoma; adenocarcinoma |
c.1940G>A; p.R647H; |
oesophagus | carcinoma; adenocarcinoma |
c.4103G>A; p.*1368*; |
oesophagus | carcinoma; adenocarcinoma |
c.163A>G; p.I55V; |
liver | carcinoma |
c.719G>A; p.S240N; |
liver | carcinoma; hepatocellular_carcinoma |
c.3736C>T; p.R1246C; |
large_intestine; colon | carcinoma |
c.1094G>T; p.R365L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.95T>A; p.I32N; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.3451A>G; p.I1151V; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.3436G>A; p.D1146N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2399G>T; p.R800L; |
lung | carcinoma; adenocarcinoma |
c.261G>C; p.L87L; |
lung | carcinoma; adenocarcinoma |
c.2342G>A; p.R781K; |
lung | carcinoma; adenocarcinoma |
c.3401G>C; p.R1134T; |
lung | carcinoma; adenocarcinoma |
c.4038C>T; p.Y1346Y; |
breast | carcinoma |
c.2744C>T; p.S915L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4040C>T; p.A1347V; 15:97318130-97318130 |
lung | carcinoma; squamous_cell_carcinoma |
c.3640C>T; p.Q1214*; 15:97309378-97309378 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.313G>C; p.V105L; 15:97068532-97068532 |
kidney | carcinoma; chromophobe_renal_cell_carcinoma |
c.3833_3835delCCT; p.S1278delS; 15:97317923-97317925 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2486-1G>C; p.?; |
NS | NS |
c.1155G>A; p.T385T; |
NS | NS |
c.2816C>G; p.A939G; |
prostate | carcinoma |
c.3625G>A; p.A1209T; |
liver | carcinoma |
c.1050C>A; p.L350L; |
liver | carcinoma |
c.1051C>A; p.Q351K; |
liver | carcinoma |
c.2545delT; p.L850fs*1; |
liver | carcinoma |
c.3001A>C; p.M1001L; |
liver | carcinoma |
c.1411C>T; p.R471C; |
lung | carcinoma; small_cell_carcinoma |
c.2360G>T; p.R787I; |
lung | carcinoma; small_cell_carcinoma |
c.3845G>T; p.S1282I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.496A>G; p.N166D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1203C>T; p.F401F; 15:97260329-97260329 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1221C>T; p.L407L; |
lung | carcinoma; adenocarcinoma |
c.2480C>A; p.P827H; |
lung | carcinoma; adenocarcinoma |
c.2874C>A; p.F958L; 15:97290401-97290401 |
ovary | carcinoma; serous_carcinoma |
c.1784G>A; p.R595H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1997-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2439G>C; p.L813L; |
lung | carcinoma; adenocarcinoma |
c.577G>A; p.E193K; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.135G>T; p.Q45H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2441G>T; p.G814V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1732G>A; p.A578T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2946C>T; p.S982S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1172G>A; p.R391H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1893G>T; p.W631C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1511G>A; p.R504H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1732G>A; p.A578T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3008G>A; p.R1003Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3124C>T; p.R1042C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.201C>T; p.A67A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1997-6G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1263C>T; p.Y421Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.322G>A; p.G108S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.755G>A; p.R252H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3472C>T; p.R1158*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3433G>A; p.E1145K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1083C>A; p.L361L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3453C>T; p.I1151I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2066C>T; p.T689I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1099G>T; p.G367W; |
breast | carcinoma |
c.258G>A; p.L86L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3472C>T; p.R1158*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1803C>A; p.I601I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1473C>T; p.D491D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1172G>A; p.R391H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3996G>T; p.G1332G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1216C>T; p.R406C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1572C>T; p.T524T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1731C>T; p.Y577Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1411C>T; p.R471C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2163C>A; p.V721V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.937C>T; p.R313C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1212C>T; p.N404N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3640C>T; p.Q1214*; 15:97309378-97309378 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1572C>T; p.T524T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.66G>A; p.A22A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.796C>T; p.P266S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2193C>A; p.F731L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2823C>T; p.P941P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2606A>G; p.Y869C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3582C>T; p.D1194D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3770C>A; p.P1257H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4010G>A; p.R1337H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2961C>T; p.Y987Y; |
breast | carcinoma |
c.2461G>T; p.V821F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2488G>T; p.G830*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1828G>A; p.V610I; |
breast | carcinoma |
c.3393C>T; p.F1131F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1377T>G; p.I459M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2460C>T; p.F820F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2716C>T; p.Q906*; |
urinary_tract; bladder | carcinoma |
c.3449A>G; p.K1150R; |
prostate | carcinoma; adenocarcinoma |
c.12C>T; p.G4G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.314T>C; p.V105A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1206delA; p.N404fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3616G>A; p.A1206T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.280G>A; p.E94K; |
urinary_tract; bladder | carcinoma |
c.3108C>T; p.N1036N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3865G>A; p.E1289K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3135T>A; p.I1045I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.167A>G; p.E56G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4041C>T; p.A1347A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3640C>A; p.Q1214K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1446C>T; p.N482N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3789C>A; p.I1263I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.3786C>T; p.I1262I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.3763A>G; p.M1255V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.314T>C; p.V105A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1091T>C; p.I364T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2873T>C; p.F958S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1382G>A; p.R461H; |
urinary_tract; bladder | carcinoma |
c.2015A>C; p.K672T; |
urinary_tract; bladder | carcinoma |
c.1923G>C; p.L641L; |
urinary_tract; bladder | carcinoma |
c.2872T>C; p.F958L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1092C>A; p.I364I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4081C>T; p.L1361L; |
prostate | carcinoma |
c.473C>T; p.S158F; |
skin | malignant_melanoma |
c.2699A>G; p.N900S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |