| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1909 |
Name | EDNRA |
Synonymous | ET-A|ETA|ETA-R|ETAR|ETRA|hET-AR;endothelin receptor type A;EDNRA;endothelin receptor type A |
Definition | G protein-coupled receptor|endothelin receptor subtype A|endothelin-1 receptor|endothelin-1-specific receptor |
Position | 4q31.22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EDNRA | ||
PCGP somatic mutation [Top] | ||
There is no record for EDNRA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1145C>T; p.S382L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.809G>A; p.C270Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1003G>A; p.E335K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.316T>C; p.Y106H; |
oesophagus | carcinoma; adenocarcinoma |
c.831C>A; p.L277L; |
liver | carcinoma |
c.532G>A; p.A178T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.406A>C; p.I136L; 4:148626689-148626689 |
breast | carcinoma |
c.406A>C; p.I136L; 4:148626689-148626689 |
breast | carcinoma; ductal_carcinoma |
c.504_505GG>CT; p.S168>?; |
lung | carcinoma; adenocarcinoma |
c.827C>A; p.T276N; |
lung | carcinoma; adenocarcinoma |
c.826A>G; p.T276A; |
lung | carcinoma; adenocarcinoma |
c.1018C>T; p.R340*; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.433C>T; p.R145C; |
breast | carcinoma |
c.448C>T; p.H150Y; |
liver | carcinoma |
c.854G>C; p.R285T; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.486C>T; p.P162P; |
lung | carcinoma; squamous_cell_carcinoma |
c.122G>A; p.R41H; 4:148626405-148626405 |
ovary | carcinoma; serous_carcinoma |
c.795T>A; p.C265*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1213A>T; p.I405F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.580C>T; p.Q194*; |
lung | carcinoma; squamous_cell_carcinoma |
c.757G>T; p.D253Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1269G>T; p.K423N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.703C>G; p.Q235E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.504G>T; p.S168S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.408C>A; p.I136I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.280G>T; p.G94*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.469C>A; p.L157I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.173T>C; p.V58A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.545A>G; p.D182G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1033A>G; p.S345G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.433C>T; p.R145C; |
breast | carcinoma |
c.893T>G; p.L298R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.904C>T; p.R302*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.662C>T; p.A221V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.318C>T; p.Y106Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.799C>T; p.P267S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.977G>A; p.R326H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1059C>T; p.I353I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.121C>T; p.R41C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230C>T; p.H410H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.408C>A; p.I136I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.121C>T; p.R41C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.354G>A; p.L118L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1004A>T; p.E335V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.121C>T; p.R41C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.658G>A; p.E220K; |
skin; neck | malignant_melanoma |
c.1019G>A; p.R340Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.731C>T; p.T244I; |
stomach | adenocarcinoma |