| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1441 |
Name | CSF3R |
Synonymous | CD114|GCSFR;colony stimulating factor 3 receptor (granulocyte);CSF3R;colony stimulating factor 3 receptor (granulocyte) |
Definition | CD114 antigen|G-CSF receptor|G-CSF-R|granulocyte colony-stimulating factor receptor |
Position | 1p35-p34.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CSF3R | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CSF3R_G21R; chr1; 36945037 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.569G>A; p.R190H; |
liver | carcinoma; hepatocellular_carcinoma |
c.1286-1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.1099C>T; p.R367W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.586T>C; p.Y196H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.853C>T; p.L285F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2576C>T; p.A859V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.282C>A; p.H94Q; |
NS | NS |
c.2526A>G; p.P842P; |
liver | carcinoma |
c.2326C>T; p.Q776*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1459G>T; p.G487W; |
oesophagus | carcinoma; adenocarcinoma |
c.1122T>A; p.S374S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1871C>T; p.S624L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1253G>A; p.R418H; |
oesophagus | carcinoma; adenocarcinoma |
c.1071+9C>T; p.?; |
liver | carcinoma |
c.2088G>A; p.M696I; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1865-2A>G; p.?; |
lung | carcinoma; adenocarcinoma |
c.1067G>C; p.W356S; |
lung | carcinoma; adenocarcinoma |
c.2003G>A; p.S668N; |
bone | chondrosarcoma |
c.991G>T; p.E331*; |
lung | carcinoma; small_cell_carcinoma |
c.1803_1804GG>TT; p.M601>?; |
lung | carcinoma; small_cell_carcinoma |
c.61G>A; p.G21R; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1438G>A; p.E480K; 1:36707876-36707876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1438G>A; p.E480K; 1:36707876-36707876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1967A>G; p.N656S; |
lung | carcinoma; adenocarcinoma |
c.2150C>T; p.T717M; 1:36704987-36704987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2150C>T; p.T717M; 1:36704987-36704987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1748G>T; p.R583L; |
lung | carcinoma; squamous_cell_carcinoma |
c.185T>A; p.L62Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1089A>T; p.E363D; 1:36709817-36709817 |
ovary | carcinoma; serous_carcinoma |
c.241G>A; p.G81R; |
lung | carcinoma; squamous_cell_carcinoma |
c.164T>A; p.L55Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.504G>T; p.Q168H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2351G>A; p.G784D; |
lung | carcinoma; squamous_cell_carcinoma |
c.806G>A; p.R269H; |
ovary | carcinoma; serous_carcinoma |
c.1079C>T; p.P360L; |
lung | carcinoma; adenocarcinoma |
c.661C>T; p.P221S; |
lung | carcinoma; adenocarcinoma |
c.1427C>T; p.T476I; |
lung | carcinoma; squamous_cell_carcinoma |
c.445G>C; p.E149Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.605G>C; p.W202S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1152C>T; p.I384I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1615G>T; p.G539C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1408G>A; p.A470T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1440A>G; p.E480E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.366T>C; p.P122P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.214G>A; p.G72R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2005A>G; p.S669G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.805C>T; p.R269C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.697C>T; p.R233W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.623C>T; p.A208V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.569G>A; p.R190H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2046_2047insC; p.G683fs*13; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.288G>T; p.Q96H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1306delC; p.H436fs*12; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.353G>C; p.R118P; |
breast | carcinoma |
c.147G>A; p.K49K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1869G>A; p.G623G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.820C>T; p.R274C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1639T>C; p.W547R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.223C>T; p.Q75*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2592G>C; p.*864Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1597C>T; p.L533L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1542C>T; p.P514P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2414C>T; p.A805V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1962G>A; p.R654R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1783C>G; p.L595V; |
breast | carcinoma |
c.2007C>T; p.S669S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.531C>T; p.C177C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.24C>T; p.S8S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1692C>A; p.I564I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1344C>A; p.G448G; |
prostate | carcinoma; adenocarcinoma |
c.1404delC; p.S469fs*22; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2198C>T; p.P733L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1404delC; p.S469fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1404delC; p.S469fs*22; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1395G>T; p.L465L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1148C>T; p.A383V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2135T>C; p.L712P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.623C>T; p.A208V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1440A>G; p.E480E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1404delC; p.S469fs*22; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.143T>A; p.I48N; |
breast | carcinoma |
c.147G>A; p.K49K; |
urinary_tract; bladder | carcinoma |
c.1983T>A; p.S661R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1089A>G; p.E363E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2354G>T; p.S785I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1404delC; p.S469fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1579C>T; p.P527S; |
skin | malignant_melanoma |
c.2447A>G; p.N816S; |
skin; mucosal | malignant_melanoma |
c.514G>A; p.D172N; |
skin; face | carcinoma; squamous_cell_carcinoma |