| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 328 |
Name | APEX1 |
Synonymous | APEX nuclease (multifunctional DNA repair enzyme) 1;APEX1;APEX nuclease (multifunctional DNA repair enzyme) 1 |
Definition | AP endonuclease class I|AP lyase|DNA-(apurinic or apyrimidinic site) lyase|apurinic-apyrimidinic endonuclease 1|apurinic/apyrimidinic (abasic) endonuclease|deoxyribonuclease (apurinic or apyrimidinic)|protein REF-1|redox factor-1 |
Position | 14q11.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.577C>T; p.R193C; 14:20457128-20457128 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.R193C; 14:20457128-20457128 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.46G>A; p.E16K; 14:20455691-20455691 |
skin | malignant_melanoma | Substitution - Missense |
c.519T>C; p.P173P; 14:20457070-20457070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.174A>C; p.K58N; 14:20456029-20456029 |
liver | carcinoma | Substitution - Missense |
c.141delC; p.P49fs*33; 14:20455996-20455996 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.141delC; p.P49fs*33; 14:20455996-20455996 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.389G>A; p.G130D; 14:20456810-20456810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.391G>A; p.V131M; 14:20456812-20456812 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.305A>T; p.N102I; 14:20456726-20456726 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.804T>G; p.T268T; 14:20457355-20457355 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.865C>T; p.H289Y; 14:20457416-20457416 |
breast | carcinoma | Substitution - Missense |
c.390C>T; p.G130G; 14:20456811-20456811 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.492G>A; p.S164S; 14:20457043-20457043 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9G>A; p.K3K; 14:20455654-20455654 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1A>G; p.M1V; 14:20455646-20455646 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.828G>A; p.K276K; 14:20457379-20457379 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - coding silent |
c.688G>A; p.A230T; 14:20457239-20457239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.75G>A; p.K25K; 14:20455930-20455930 |
breast | carcinoma | Substitution - coding silent |
c.14G>C; p.G5A; 14:20455659-20455659 |
breast | carcinoma | Substitution - Missense |
c.66G>A; p.E22E; 14:20455921-20455921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.724G>T; p.E242*; 14:20457275-20457275 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.190A>G; p.I64V; 14:20456045-20456045 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.648A>G; p.E216E; 14:20457199-20457199 |
liver | carcinoma | Substitution - coding silent |
c.648A>G; p.E216E; 14:20457199-20457199 |
liver | carcinoma | Substitution - coding silent |
c.648A>G; p.E216E; 14:20457199-20457199 |
liver | carcinoma | Substitution - coding silent |
c.847G>C; p.D283H; 14:20457398-20457398 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.662G>A; p.R221H; 14:20457213-20457213 |
prostate | adenoma | Substitution - Missense |
c.662G>A; p.R221H; 14:20457213-20457213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.662G>A; p.R221H; 14:20457213-20457213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.658C>A; p.L220I; 14:20457209-20457209 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>C; p.D15H; 14:20455688-20455688 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.578G>A; p.R193H; 14:20457129-20457129 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.689C>A; p.A230D; 14:20457240-20457240 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.867_868delCT; p.L291fs*6; 14:20457418-20457419 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.820C>T; p.R274*; 14:20457371-20457371 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.8A>G; p.K3R; 14:20455653-20455653 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.788C>T; p.A263V; 14:20457339-20457339 |
skin | malignant_melanoma | Substitution - Missense |
c.404C>T; p.S135F; 14:20456825-20456825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.444T>G; p.D148E; 14:20456995-20456995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817G>A; p.A273T; 14:20457368-20457368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.821G>A; p.R274Q; 14:20457372-20457372 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |