| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1910 |
Name | EDNRB |
Synonymous | ABCDS|ET-B|ET-BR|ETB|ETBR|ETRB|HSCR|HSCR2|WS4A;endothelin receptor type B;EDNRB;endothelin receptor type B |
Definition | endothelin B receptor|endothelin receptor non-selective type |
Position | 13q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EDNRB | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EDNRB_E7_UTR_3; chr13; 78469622 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.928G>T; p.A310S; |
lung | carcinoma; small_cell_carcinoma |
c.29G>A; p.R10H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.149C>A; p.T50N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.666T>G; p.I222M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.364C>T; p.L122F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.478T>C; p.Y160H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.708A>G; p.E236E; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.913A>C; p.S305R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.781C>A; p.Q261K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1201T>G; p.L401V; |
oesophagus | carcinoma; adenocarcinoma |
c.230C>T; p.T77M; |
oesophagus | carcinoma; adenocarcinoma |
c.248G>A; p.R83H; |
oesophagus | carcinoma; adenocarcinoma |
c.586A>C; p.S196R; |
lung | carcinoma; adenocarcinoma |
c.984G>C; p.L328L; |
lung | carcinoma; adenocarcinoma |
c.352G>A; p.G118R; |
lung | carcinoma; adenocarcinoma |
c.1202delT; p.L401fs*21; |
skin; trunk | malignant_melanoma |
c.685T>A; p.S229T; |
breast | carcinoma |
c.1159T>C; p.Y387H; |
breast | carcinoma |
c.877delT; p.Y293fs*3; |
lung | carcinoma; small_cell_carcinoma |
c.402C>T; p.N134N; |
endometrium | carcinoma; serous_carcinoma |
c.29G>T; p.R10L; |
lung | carcinoma; adenocarcinoma |
c.1145A>T; p.N382I; |
lung | carcinoma; adenocarcinoma |
c.973G>A; p.V325I; |
lung | carcinoma; squamous_cell_carcinoma |
c.973G>A; p.V325I; |
ovary | carcinoma; serous_carcinoma |
c.966C>A; p.A322A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.712A>G; p.I238V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5A>T; p.Q2L; |
lung | carcinoma; adenocarcinoma |
c.161G>A; p.W54*; |
lung | carcinoma; squamous_cell_carcinoma |
c.393C>G; p.C131W; |
lung | carcinoma; adenocarcinoma |
c.686C>A; p.S229Y; |
lung | carcinoma; adenocarcinoma |
c.151A>G; p.K51E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1163T>A; p.L388*; |
lung | carcinoma; squamous_cell_carcinoma |
c.447G>T; p.L149L; |
lung | carcinoma; squamous_cell_carcinoma |
c.893G>T; p.C298F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.727A>G; p.I243V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.454G>A; p.V152I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1079T>G; p.L360R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.171T>C; p.G57G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.453C>T; p.I151I; |
breast | carcinoma |
c.1110T>C; p.I370I; |
breast | carcinoma |
c.206C>T; p.A69V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.189G>A; p.A63A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.190C>T; p.R64W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.248G>A; p.R83H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.126C>T; p.T42T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.230C>T; p.T77M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.931T>C; p.L311L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.113C>T; p.P38L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9G>A; p.P3P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.420C>T; p.I140I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1086C>A; p.S362R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.757C>T; p.R253*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.999C>G; p.A333A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1079T>G; p.L360R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1034T>C; p.L345P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1045C>A; p.L349I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.876T>G; p.F292L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1179C>T; p.F393F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.553G>A; p.V185M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.929C>A; p.A310D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.205G>A; p.A69T; |
breast | carcinoma |
c.1005C>A; p.C335*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1284C>T; p.H428H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.684C>A; p.V228V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.266C>T; p.P89L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1201T>G; p.L401V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.791C>T; p.A264V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1165G>A; p.V389M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.282C>T; p.I94I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.863T>C; p.I288T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.787A>G; p.T263A; |
breast | carcinoma |
c.24C>T; p.C8C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.721G>C; p.D241H; |
urinary_tract; bladder | carcinoma |
c.1175G>C; p.R392T; |
urinary_tract; bladder | carcinoma |
c.267G>A; p.P89P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114G>A; p.P38P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.89G>A; p.G30D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.759A>G; p.R253R; |
urinary_tract; bladder | carcinoma |
c.465C>A; p.I155I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.359C>A; p.S120Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.266C>T; p.P89L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.282C>T; p.I94I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.130G>A; p.E44K; |
skin | malignant_melanoma |
c.1028G>A; p.R343K; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.650G>A; p.W217*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1079T>G; p.L360R; |
stomach | adenocarcinoma |
c.877delT; p.Y293fs*3; |
stomach | adenocarcinoma |