| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 10055 |
Name | SAE1 |
Synonymous | SUMO1 activating enzyme subunit 1;SAE1;SUMO1 activating enzyme subunit 1 |
Definition | SUMO-1 activating enzyme E1 N subunit|SUMO-1 activating enzyme subunit 1|SUMO-activating enzyme subunit 1|activator of SUMO1|sentrin/SUMO-activating protein AOS1|ubiquitin-like 1-activating enzyme E1A|ubiquitin-like protein SUMO-1 activating enzyme |
Position | 19q13.32 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.473delT; p.F159fs*11; 19:47152986-47152986 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.473delT; p.F159fs*11; 19:47152986-47152986 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.175G>A; p.G59R; 19:47143570-47143570 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>A; p.R235S; 19:47169893-47169893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>T; p.V108L; 19:47150313-47150313 |
thyroid | other; neoplasm | Substitution - Missense |
c.727C>T; p.L243F; 19:47169917-47169917 |
skin | malignant_melanoma | Substitution - Missense |
c.132G>A; p.L44L; 19:47143527-47143527 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.292C>T; p.R98*; 19:47150283-47150283 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.704G>A; p.R235H; 19:47169894-47169894 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.748C>T; p.R250C; 19:47197247-47197247 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.456G>T; p.K152N; 19:47152969-47152969 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.689A>T; p.K230M; 19:47169879-47169879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.870C>A; p.D290E; 19:47197369-47197369 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.293G>A; p.R98Q; 19:47150284-47150284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.505C>G; p.L169V; 19:47153018-47153018 |
oesophagus | carcinoma | Substitution - Missense |
c.813G>C; p.Q271H; 19:47197312-47197312 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.387G>T; p.V129V; 19:47152900-47152900 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.515A>G; p.H172R; 19:47153028-47153028 |
skin | malignant_melanoma | Substitution - Missense |
c.172G>A; p.A58T; 19:47143567-47143567 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.894G>T; p.E298D; 19:47203686-47203686 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.358G>A; p.E120K; 19:47150349-47150349 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.132G>T; p.L44F; 19:47143527-47143527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.656C>T; p.A219V; 19:47169846-47169846 |
breast | carcinoma | Substitution - Missense |
c.817C>T; p.R273*; 19:47197316-47197316 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.445A>T; p.N149Y; 19:47152958-47152958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.719A>T; p.Y240F; 19:47169909-47169909 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.794A>T; p.D265V; 19:47197293-47197293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.163C>T; p.L55F; 19:47143558-47143558 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.163C>T; p.L55F; 19:47143558-47143558 |
skin | malignant_melanoma | Substitution - Missense |
c.148G>A; p.E50K; 19:47143543-47143543 |
skin | malignant_melanoma | Substitution - Missense |
c.917T>C; p.V306A; 19:47203709-47203709 |
skin | malignant_melanoma | Substitution - Missense |
c.981_983delCTT; p.F331delF; 19:47209191-47209193 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.37G>C; p.E13Q; 19:47130967-47130967 |
breast | carcinoma | Substitution - Missense |
c.576C>T; p.P192P; 19:47155162-47155162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.576C>T; p.P192P; 19:47155162-47155162 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.769C>T; p.P257S; 19:47197268-47197268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.915G>T; p.V305V; 19:47203707-47203707 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.265C>T; p.R89*; 19:47150256-47150256 |
breast | carcinoma | Substitution - Nonsense |
c.642C>T; p.C214C; 19:47169832-47169832 |
skin | malignant_melanoma | Substitution - coding silent |
c.93G>T; p.Q31H; 19:47131023-47131023 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833A>G; p.D278G; 19:47197332-47197332 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.786T>C; p.Y262Y; 19:47197285-47197285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.285T>C; p.S95S; 19:47150276-47150276 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - coding silent |
c.884G>A; p.C295Y; 19:47203676-47203676 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.103C>T; p.R35W; 19:47143498-47143498 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.875T>C; p.V292A; 19:47197374-47197374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.952C>T; p.L318L; 19:47209162-47209162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.890C>T; p.S297F; 19:47203682-47203682 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.911C>T; p.A304V; 19:47203703-47203703 |
breast | carcinoma | Substitution - Missense |
c.1001T>C; p.M334T; 19:47209211-47209211 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>C; p.K152T; 19:47152968-47152968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.949-1G>T; p.?; 19:47209158-47209158 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.54G>A; p.Q18Q; 19:47130984-47130984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.459C>A; p.F153L; 19:47152972-47152972 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |