| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 166 |
Name | AES |
Synonymous | amino-terminal enhancer of split;AES;amino-terminal enhancer of split |
Definition | gp130-associated protein GAM|groucho-related protein 5 |
Position | 19p13.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.22C>T; p.P8S; 19:3062906-3062906 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.757G>A; p.D253N; 19:3053857-3053857 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>A; p.D251N; 19:3053863-3053863 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.255C>G; p.L85L; 19:3061231-3061231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.357T>C; p.S119S; 19:3057712-3057712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.789G>A; p.S263S; 19:3053825-3053825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.284G>A; p.R95H; 19:3061202-3061202 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.789G>A; p.S263S; 19:3053825-3053825 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69A>G; p.L23L; 19:3062859-3062859 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.587C>T; p.A196V; 19:3054027-3054027 |
skin | malignant_melanoma | Substitution - Missense |
c.552C>T; p.P184P; 19:3054141-3054141 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.665C>G; p.P222R; 19:3053949-3053949 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.489C>G; p.L163L; 19:3055673-3055673 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.460G>T; p.G154W; 19:3055702-3055702 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.737A>G; p.D246G; 19:3053877-3053877 |
thyroid | other; neoplasm | Substitution - Missense |
c.587C>A; p.A196D; 19:3054027-3054027 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.586G>A; p.A196T; 19:3054028-3054028 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.467G>C; p.C156S; 19:3055695-3055695 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.302A>G; p.Q101R; 19:3061184-3061184 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.A157S; 19:3055693-3055693 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.327-1G>T; p.?; 19:3057743-3057743 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.311A>C; p.Q104P; 19:3061175-3061175 |
skin | malignant_melanoma | Substitution - Missense |
c.444C>T; p.I148I; 19:3055718-3055718 |
skin | malignant_melanoma | Substitution - coding silent |
c.74T>G; p.L25R; 19:3062854-3062854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |