| Gene ID | 840 |
| Symbol | CASP7 |
| Synonymous | CASP-7|CMH-1|ICE-LAP3|LICE2|MCH3 |
| Full name | caspase 7, apoptosis-related cysteine peptidase |
| Gene description | ICE-like apoptotic protease 3|apoptotic protease MCH-3|caspase 7, apoptosis-related cysteine protease|caspase-7 |
| Cytoband | 10q25 |
| Gene type | protein-coding |
| Synonymous | MIM:601761; HGNC:HGNC:1508; Ensembl:ENSG00000165806; HPRD:03457; Vega:OTTHUMG00000019076 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.595delT; p.F199fs*10; 10:113725481-113725481 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.469A>T; p.K157*; 10:113721773-113721773 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.469A>T; p.K157*; 10:113721773-113721773 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.725C>A; p.P242H; 10:113726378-113726378 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.997T>C; p.Y333H; 10:113729526-113729526 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.L137L; 10:113721713-113721713 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862G>C; p.D288H; 10:113729391-113729391 |
ovary | other; neoplasm | Substitution - Missense |
c.155A>G; p.E52G; 10:113697549-113697549 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.604G>A; p.D202N; 10:113725490-113725490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.A171T; 10:113725397-113725397 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.51C>T; p.N17N; 10:113692022-113692022 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.791C>T; p.S264L; 10:113729320-113729320 |
skin | malignant_melanoma | Substitution - Missense |
c.972G>T; p.V324V; 10:113729501-113729501 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.327G>T; p.K109N; 10:113721149-113721149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.936C>T; p.D312D; 10:113729465-113729465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.111T>G; p.D37E; 10:113697505-113697505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.951G>C; p.E317D; 10:113729480-113729480 |
breast | carcinoma | Substitution - Missense |
c.355G>A; p.V119I; 10:113721659-113721659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.119G>A; p.C40Y; 10:113697513-113697513 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>A; p.L282M; 10:113729373-113729373 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.411G>T; p.L137L; 10:113721715-113721715 |
thyroid | carcinoma | Substitution - coding silent |
c.97C>A; p.Q33K; 10:113692068-113692068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.908C>T; p.A303V; 10:113729437-113729437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.469delA; p.A159fs*17; 10:113721773-113721773 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.970G>T; p.V324L; 10:113729499-113729499 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.802C>T; p.P268S; 10:113729331-113729331 |
skin | malignant_melanoma | Substitution - Missense |
c.577A>G; p.K193E; 10:113725463-113725463 |
skin | malignant_melanoma | Substitution - Missense |
c.359G>A; p.R120Q; 10:113721663-113721663 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.52A>G; p.T18A; 10:113692023-113692023 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.380C>T; p.A127V; 10:113721684-113721684 |
skin | malignant_melanoma | Substitution - Missense |
c.346G>A; p.G116S; 10:113721168-113721168 |
skin | malignant_melanoma | Substitution - Missense |
c.882C>A; p.I294I; 10:113729411-113729411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.663G>C; p.G221G; 10:113726316-113726316 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.129G>A; p.E43E; 10:113697523-113697523 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.382G>A; p.E128K; 10:113721686-113721686 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796A>T; p.R266W; 10:113729325-113729325 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.106G>A; p.D36N; 10:113697500-113697500 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800G>A; p.S267N; 10:113729329-113729329 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.L100L; 10:113721120-113721120 |
oesophagus | carcinoma | Substitution - coding silent |
c.770C>T; p.S257F; 10:113726423-113726423 |
breast | carcinoma | Substitution - Missense |
c.788A>C; p.Y263S; 10:113729317-113729317 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |