| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5159 |
Name | PDGFRB |
Synonymous | CD140B|JTK12|PDGFR|PDGFR-1|PDGFR1;platelet-derived growth factor receptor, beta polypeptide;PDGFRB;platelet-derived growth factor receptor, beta polypeptide |
Definition | CD140 antigen-like family member B|PDGF-R-beta|PDGFR-beta|beta-type platelet-derived growth factor receptor|platelet-derived growth factor receptor 1|platelet-derived growth factor receptor beta |
Position | 5q33.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PDGFRB | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PDGFRB_R115W; chr5; 149515139 |
SUB; MISSENSE; G; G/A; SOMATIC | AMLM7; VALID; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.996G>C; p.R332R; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1303C>T; p.R435C; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.42C>T; p.G14G; |
prostate | carcinoma |
c.2301G>C; p.E767D; |
prostate | carcinoma |
c.463C>T; p.Q155*; 5:149494674-149494674 |
lung | carcinoma; adenocarcinoma |
c.546C>G; p.I182M; 5:149494591-149494591 |
lung | carcinoma; adenocarcinoma |
c.1634C>T; p.T545I; 5:149486316-149486316 |
lung | carcinoma; adenocarcinoma |
c.1950_1951GG>TA; p.E651K; |
NS | malignant_melanoma |
c.1950_1951GG>TA; p.E651K; |
NS | malignant_melanoma |
c.1939G>T; p.A647S; |
lung | carcinoma; small_cell_carcinoma |
c.1391C>T; p.T464M; |
stomach | carcinoma |
c.1044C>T; p.V348V; 5:149492589-149492589 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2281G>A; p.V761I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2625C>T; p.I875I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2316G>A; p.M772I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.621C>T; p.Y207Y; |
NS | NS |
c.621C>T; p.Y207Y; |
NS | NS |
c.742A>G; p.T248A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2565G>A; p.S855S; |
oesophagus | carcinoma; adenocarcinoma |
c.1697G>T; p.W566L; |
oesophagus | carcinoma; adenocarcinoma |
c.2129C>T; p.P710L; |
stomach | carcinoma; adenocarcinoma |
c.3252A>G; p.P1084P; |
stomach | carcinoma; adenocarcinoma |
c.3137+4A>G; p.?; |
stomach | carcinoma; adenocarcinoma |
c.2601A>G; p.L867L; |
stomach | carcinoma; adenocarcinoma |
c.2645C>T; p.T882I; 5:149479821-149479821 |
breast | carcinoma; ductal_carcinoma |
c.757G>T; p.E253*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1892T>C; p.V631A; |
liver | carcinoma |
c.3275C>T; p.S1092L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2137G>A; p.A713T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.831C>A; p.H277Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1692C>A; p.I564I; |
lung | carcinoma; adenocarcinoma |
c.526C>A; p.Q176K; |
lung | carcinoma; adenocarcinoma |
c.1536C>A; p.N512K; |
lung | carcinoma; adenocarcinoma |
c.1884G>A; p.T628T; |
lung | carcinoma; adenocarcinoma |
c.934+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2765G>A; p.R922H; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2224G>A; p.D742N; |
skin; extremity | malignant_melanoma |
c.1743C>T; p.Y581Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.263C>T; p.T88I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1107G>A; p.T369T; |
prostate | carcinoma |
c.1765T>C; p.Y589H; 5:149485243-149485243 |
stomach | carcinoma; adenocarcinoma |
c.3270G>A; p.P1090P; 5:149475570-149475570 |
large_intestine | carcinoma; adenocarcinoma |
c.1021G>A; p.E341K; |
liver | carcinoma |
c.1790G>A; p.R597Q; |
lung | carcinoma; small_cell_carcinoma |
c.1853C>T; p.T618M; |
autonomic_ganglia | neuroblastoma |
c.2355G>A; p.R785R; 5:149481068-149481068 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.220G>A; p.A74T; 5:149495455-149495455 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2956C>T; p.L986F; 5:149477555-149477555 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.151G>T; p.V51F; |
lung | carcinoma; adenocarcinoma |
c.43G>T; p.E15*; |
lung | carcinoma; adenocarcinoma |
c.1178A>C; p.H393P; |
lung | carcinoma; adenocarcinoma |
c.411C>G; p.I137M; |
lung | carcinoma; squamous_cell_carcinoma |
c.2156C>T; p.A719V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2024G>A; p.G675E; |
ovary | carcinoma; serous_carcinoma |
c.2545C>G; p.R849G; 5:149480685-149480685 |
ovary | carcinoma; serous_carcinoma |
c.1028A>C; p.Y343S; |
ovary | carcinoma; serous_carcinoma |
c.2123G>T; p.R708L; |
lung | carcinoma; squamous_cell_carcinoma |
c.61C>T; p.L21F; |
lung | carcinoma; squamous_cell_carcinoma |
c.457G>C; p.D153H; |
lung | carcinoma; adenocarcinoma |
c.1934A>C; p.K645T; |
lung | carcinoma; adenocarcinoma |
c.1938A>T; p.Q646H; |
lung | carcinoma; adenocarcinoma |
c.108A>T; p.T36T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1228C>A; p.Q410K; |
lung | carcinoma; squamous_cell_carcinoma |
c.63C>A; p.L21L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.632-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2850C>A; p.P950P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.34C>G; p.L12V; |
ovary | carcinoma; serous_carcinoma |
c.2012G>A; p.C671Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.2200G>T; p.G734W; |
lung | carcinoma; adenocarcinoma |
c.3034G>T; p.V1012L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1252C>T; p.R418*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2574C>A; p.I858I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1035G>A; p.P345P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1897G>A; p.V633I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.250G>A; p.V84M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.967G>T; p.G323C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2783A>G; p.H928R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.141C>T; p.S47S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1096G>A; p.A366T; |
large_intestine; colon | NS |
c.177G>A; p.P59P; |
large_intestine; colon | NS |
c.3057C>T; p.N1019N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3287C>T; p.A1096V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2886G>C; p.L962F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12G>A; p.P4P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.401A>G; p.E134G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1810C>T; p.R604C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.3163T>A; p.S1055T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2122C>T; p.R708C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.289G>T; p.E97*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2770G>A; p.A924T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.460C>T; p.P154S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2545C>T; p.R849*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2325C>T; p.Y775Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1208C>T; p.A403V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1854G>A; p.T618T; |
breast | carcinoma |
c.2431G>A; p.A811T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1498G>A; p.V500M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.17C>T; p.A6V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3293G>A; p.R1098Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2664C>T; p.S888S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2467G>A; p.V823I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.719A>G; p.N240S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.885G>A; p.E295E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1310G>A; p.R437H; |
breast | carcinoma |
c.871T>C; p.C291R; |
breast | carcinoma |
c.1770C>T; p.D590D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1769A>C; p.D590A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.186G>A; p.W62*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2755C>T; p.R919W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.250G>A; p.V84M; |
urinary_tract; bladder | carcinoma |
c.2547A>G; p.R849R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3034G>A; p.V1012M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.505C>T; p.L169L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2957T>C; p.L986P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1776G>A; p.T592T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2819G>A; p.C940Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1043T>C; p.V348A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1767T>C; p.Y589Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.464A>G; p.Q155R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1925G>A; p.S642N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2911C>A; p.Q971K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1781A>G; p.E594G; |
urinary_tract; bladder | carcinoma |
c.902A>G; p.Q301R; |
urinary_tract; bladder | carcinoma |
c.2904+1G>T; p.?; |
urinary_tract; bladder | carcinoma |
c.545T>C; p.I182T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1619C>T; p.A540V; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1359C>A; p.D453E; |
breast | carcinoma |
c.1766A>G; p.Y589C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3270G>A; p.P1090P; 5:149475570-149475570 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3270G>A; p.P1090P; 5:149475570-149475570 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2467G>A; p.V823I; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.3017C>T; p.S1006F; |
skin | malignant_melanoma |
c.186G>A; p.W62*; |
skin | malignant_melanoma |
c.3205G>A; p.E1069K; |
skin | malignant_melanoma |
c.3148A>C; p.N1050H; |
skin | malignant_melanoma |
c.2114C>T; p.S705F; |
skin; scalp | malignant_melanoma |
c.586G>A; p.D196N; |
skin | malignant_melanoma |
c.1000C>T; p.R334W; |
skin; mucosal | malignant_melanoma |
c.1674+1G>A; p.?; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1246C>T; p.P416S; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.400G>T; p.E134*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1765T>C; p.Y589H; 5:149485243-149485243 |
stomach | adenocarcinoma |