| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1908 |
Name | EDN3 |
Synonymous | ET-3|ET3|HSCR4|PPET3|WS4B;endothelin 3;EDN3;endothelin 3 |
Definition | endothelin-3|preproendothelin-3 |
Position | 20q13.2-q13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EDN3 | ||
PCGP somatic mutation [Top] | ||
There is no record for EDN3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.345C>T; p.I115I; |
NS | malignant_melanoma |
c.345C>T; p.I115I; |
NS | malignant_melanoma |
c.409C>T; p.R137W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.562A>C; p.K188Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.345C>T; p.I115I; |
skin; abdomen | malignant_melanoma |
c.218G>A; p.G73D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.252G>A; p.A84A; |
oesophagus | carcinoma; adenocarcinoma |
c.422C>A; p.S141Y; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.337C>A; p.L113M; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.194C>G; p.T65S; |
lung | carcinoma; adenocarcinoma |
c.410G>T; p.R137L; |
lung | carcinoma; adenocarcinoma |
c.294G>T; p.T98T; |
lung | carcinoma; adenocarcinoma |
c.628A>T; p.K210*; |
liver | carcinoma; hepatocellular_carcinoma |
c.543-8delc; p.?; |
liver | carcinoma |
c.177T>C; p.A59A; |
liver | carcinoma |
c.554C>T; p.T185M; |
central_nervous_system; temporal_lobe | glioma; ependymoma |
c.515T>G; p.F172C; |
central_nervous_system; brain | glioma |
c.381T>C; p.Y127Y; |
ovary | carcinoma; serous_carcinoma |
c.203C>T; p.P68L; |
lung | carcinoma; squamous_cell_carcinoma |
c.485T>C; p.V162A; |
lung | carcinoma; squamous_cell_carcinoma |
c.251C>A; p.A84E; |
lung | carcinoma; adenocarcinoma |
c.146C>A; p.T49N; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.521C>A; p.T174N; |
lung | carcinoma; adenocarcinoma |
c.225C>A; p.S75R; |
lung | carcinoma; adenocarcinoma |
c.393C>A; p.N131K; |
lung | carcinoma; adenocarcinoma |
c.449A>T; p.Q150L; |
lung | carcinoma; squamous_cell_carcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.502G>A; p.A168T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.514delT; p.C173fs*25; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.265C>A; p.P89T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.204G>A; p.P68P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.236C>A; p.P79H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.624-6A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.461G>A; p.R154Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.371C>T; p.T124M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.333C>T; p.C111C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.105G>A; p.Q35Q; |
breast | carcinoma |
c.163G>A; p.E55K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.308A>T; p.K103M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.95G>T; p.G32V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.256G>A; p.E86K; |
breast | carcinoma |
c.27C>T; p.F9F; |
urinary_tract; bladder | carcinoma |
c.417G>C; p.K139N; |
skin | malignant_melanoma |
c.361C>T; p.P121S; |
skin; face | carcinoma; squamous_cell_carcinoma |