| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1908 |
Name | EDN3 |
Synonymous | endothelin 3;EDN3;endothelin 3 |
Definition | endothelin-3|preproendothelin-3 |
Position | 20q13.2-q13.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.192G>A; p.G64G; 20:59301549-59301549 |
skin | malignant_melanoma | Substitution - coding silent |
c.554C>T; p.T185M; 20:59322383-59322383 |
central_nervous_system; temporal_lobe | glioma; ependymoma | Substitution - Missense |
c.521C>A; p.T174N; 20:59321172-59321172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.130_131GG>AA; p.G44K; 20:59301487-59301488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401G>A; p.G134E; 20:59321052-59321052 |
skin | malignant_melanoma | Substitution - Missense |
c.628A>T; p.K210*; 20:59324335-59324335 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.300C>T; p.F100F; 20:59301657-59301657 |
skin | malignant_melanoma | Substitution - coding silent |
c.28G>A; p.G10R; 20:59300840-59300840 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.177T>C; p.A59A; 20:59301534-59301534 |
liver | carcinoma | Substitution - coding silent |
c.485T>C; p.V162A; 20:59321136-59321136 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.502G>A; p.A168T; 20:59321153-59321153 |
liver | carcinoma | Substitution - Missense |
c.502G>A; p.A168T; 20:59321153-59321153 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.638C>T; p.T213I; 20:59324345-59324345 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.594A>C; p.R198S; 20:59322423-59322423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>G; p.P155R; 20:59321115-59321115 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.225C>A; p.S75R; 20:59301582-59301582 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.P68P; 20:59301561-59301561 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.333C>T; p.C111C; 20:59301690-59301690 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.179G>A; p.G60D; 20:59301536-59301536 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.179G>A; p.G60D; 20:59301536-59301536 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.179G>A; p.G60D; 20:59301536-59301536 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.345C>T; p.I115I; 20:59301702-59301702 |
NS | malignant_melanoma | Substitution - coding silent |
c.345C>T; p.I115I; 20:59301702-59301702 |
skin; abdomen | malignant_melanoma | Substitution - coding silent |
c.345C>T; p.I115I; 20:59301702-59301702 |
NS | malignant_melanoma | Substitution - coding silent |
c.186C>T; p.G62G; 20:59301543-59301543 |
skin | malignant_melanoma | Substitution - coding silent |
c.369G>A; p.Q123Q; 20:59321020-59321020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294G>T; p.T98T; 20:59301651-59301651 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.256G>A; p.E86K; 20:59301613-59301613 |
breast | carcinoma | Substitution - Missense |
c.234C>A; p.S78R; 20:59301591-59301591 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.163G>A; p.E55K; 20:59301520-59301520 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.163G>A; p.E55K; 20:59301520-59301520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.163G>A; p.E55K; 20:59301520-59301520 |
skin | malignant_melanoma | Substitution - Missense |
c.218G>A; p.G73D; 20:59301575-59301575 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.191G>T; p.G64V; 20:59301548-59301548 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.27C>T; p.F9F; 20:59300839-59300839 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.543-8delC; p.?; 20:59322364-59322364 |
liver | carcinoma | Unknown |
c.645A>G; p.K215K; 20:59324352-59324352 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217G>A; p.G73S; 20:59301574-59301574 |
liver | carcinoma | Substitution - Missense |
c.217G>A; p.G73S; 20:59301574-59301574 |
liver | carcinoma | Substitution - Missense |
c.412G>A; p.G138S; 20:59321063-59321063 |
skin | malignant_melanoma | Substitution - Missense |
c.251C>A; p.A84E; 20:59301608-59301608 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>T; p.R137L; 20:59321061-59321061 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.371C>T; p.T124M; 20:59321022-59321022 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.287G>A; p.R96H; 20:59301644-59301644 |
liver | carcinoma | Substitution - Missense |
c.236C>A; p.P79H; 20:59301593-59301593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.105G>A; p.Q35Q; 20:59301462-59301462 |
breast | carcinoma | Substitution - coding silent |
c.253G>A; p.A85T; 20:59301610-59301610 |
skin | malignant_melanoma | Substitution - Missense |
c.562A>C; p.K188Q; 20:59322391-59322391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.392A>G; p.N131S; 20:59321043-59321043 |
skin | malignant_melanoma | Substitution - Missense |
c.265C>A; p.P89T; 20:59301622-59301622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>A; p.V108I; 20:59301679-59301679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.95G>T; p.G32V; 20:59301452-59301452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315G>A; p.K105K; 20:59301672-59301672 |
skin | malignant_melanoma | Substitution - coding silent |
c.165G>A; p.E55E; 20:59301522-59301522 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.461G>A; p.R154Q; 20:59321112-59321112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.165G>A; p.E55E; 20:59301522-59301522 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.203C>T; p.P68L; 20:59301560-59301560 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.425C>T; p.A142V; 20:59321076-59321076 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.449A>T; p.Q150L; 20:59321100-59321100 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514delT; p.C173fs*25; 20:59321165-59321165 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.393C>A; p.N131K; 20:59321044-59321044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.308A>T; p.K103M; 20:59301665-59301665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350G>A; p.W117*; 20:59301707-59301707 |
skin | malignant_melanoma | Substitution - Nonsense |
c.101C>T; p.S34F; 20:59301458-59301458 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.146C>A; p.T49N; 20:59301503-59301503 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.385C>A; p.L129M; 20:59321036-59321036 |
ovary | other; neoplasm | Substitution - Missense |
c.252G>A; p.A84A; 20:59301609-59301609 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.243G>A; p.Q81Q; 20:59301600-59301600 |
skin | malignant_melanoma | Substitution - coding silent |
c.103C>T; p.Q35*; 20:59301460-59301460 |
skin | malignant_melanoma | Substitution - Nonsense |
c.422C>A; p.S141Y; 20:59321073-59321073 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515T>G; p.F172C; 20:59321166-59321166 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.546T>G; p.N182K; 20:59322375-59322375 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.601A>T; p.N201Y; 20:59322430-59322430 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.194C>G; p.T65S; 20:59301551-59301551 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.361C>T; p.P121S; 20:59301718-59301718 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.363C>T; p.P121P; 20:59301720-59301720 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.337C>A; p.L113M; 20:59301694-59301694 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.381T>C; p.Y127Y; 20:59321032-59321032 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.409C>T; p.R137W; 20:59321060-59321060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.624-6A>G; p.?; 20:59324325-59324325 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.362C>T; p.P121L; 20:59301719-59301719 |
skin | malignant_melanoma | Substitution - Missense |
c.286C>T; p.R96C; 20:59301643-59301643 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>C; p.K139N; 20:59321068-59321068 |
skin | malignant_melanoma | Substitution - Missense |