| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 841 |
Name | CASP8 |
Synonymous | ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5;caspase 8, apoptosis-related cysteine peptidase;CASP8;caspase 8, apoptosis-related cysteine peptidase |
Definition | FADD-homologous ICE/CED-3-like protease|FADD-like ICE|ICE-like apoptotic protease 5|MACH-alpha-1/2/3 protein|MACH-beta-1/2/3/4 protein|MORT1-associated ced-3 homolog|apoptotic cysteine protease|apoptotic protease Mch-5|caspase 8, apoptosis-related cystein |
Position | 2q33-q34 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CASP8 | ||
PCGP somatic mutation [Top] | ||
There is no record for CASP8 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1080G>C; p.L360F; |
breast | carcinoma; HER-positive_carcinoma |
c.201C>T; p.F67F; |
ovary | other; neoplasm |
c.872T>G; p.F291C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.31G>A; p.G11R; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.408G>A; p.M136I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1036C>T; p.Q346*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1376T>C; p.I459T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.746C>A; p.P249H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1064C>T; p.S355F; |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.686C>T; p.P229L; |
oesophagus | carcinoma; adenocarcinoma |
c.735G>T; p.M245I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.684T>A; p.S228S; |
liver | carcinoma |
c.746C>A; p.P249H; |
large_intestine; colon | carcinoma |
c.410T>A; p.L137H; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1208C>G; p.S403*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1175C>G; p.S392*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1356-1G>C; p.?; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.265G>T; p.E89*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1208C>G; p.S403*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1216C>T; p.Q406*; |
large_intestine; colon | carcinoma |
c.1234G>A; p.D412N; |
skin; trunk | malignant_melanoma; nodular |
c.1424A>T; p.N475I; |
lung | carcinoma; adenocarcinoma |
c.646+2T>G; p.?; |
lung | carcinoma; adenocarcinoma |
c.1213C>T; p.P405S; |
skin | malignant_melanoma |
c.202C>T; p.R68*; |
ovary | carcinoma; serous_carcinoma |
c.1114delT; p.F373fs*26; |
ovary | carcinoma; serous_carcinoma |
c.1066C>T; p.Q356*; |
breast | carcinoma |
c.1444C>T; p.Q482*; |
breast | carcinoma |
c.1088C>A; p.P363H; |
prostate | carcinoma |
c.910T>G; p.C304G; |
liver | carcinoma |
c.1304G>C; p.G435A; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.161T>C; p.L54S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1195G>T; p.E399*; |
endometrium | carcinoma; serous_carcinoma |
c.283A>T; p.R95W; |
ovary | carcinoma; serous_carcinoma |
c.876A>G; p.E292E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1352C>T; p.P451L; |
ovary | carcinoma; serous_carcinoma |
c.1175C>G; p.S392*; |
lung | carcinoma; squamous_cell_carcinoma |
c.422C>G; p.S141*; |
lung | carcinoma; squamous_cell_carcinoma |
c.537G>C; p.E179D; |
lung | carcinoma; adenocarcinoma |
c.166G>T; p.E56*; |
lung | carcinoma; adenocarcinoma |
c.1064C>G; p.S355C; |
lung | carcinoma; adenocarcinoma |
c.1034G>T; p.G345V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.595A>C; p.I199L; |
breast | carcinoma |
c.24T>A; p.Y8*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.948C>A; p.Y316*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1025G>A; p.G342D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.851C>T; p.A284V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.185T>C; p.L62P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1464delA; p.K490fs*>7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1280T>C; p.V427A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1345C>T; p.R449*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1427_1428insG; p.K478fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7T>G; p.F3V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1345C>T; p.R449*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.122C>A; p.A41D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.677C>T; p.S226L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1330C>T; p.Q444*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.758G>A; p.C253Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.987C>A; p.C329*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.391C>T; p.L131L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.773A>G; p.N258S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.899C>T; p.P300L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.880C>T; p.L294F; |
breast | carcinoma |
c.1354C>T; p.R452*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.203G>A; p.R68Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.480C>T; p.I160I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1109A>C; p.K370T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1195G>T; p.E399*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1113_1114insT; p.I374fs*8; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.93G>A; p.P31P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.929A>G; p.Y310C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.480C>A; p.I160I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.106G>T; p.E36*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14G>T; p.R5I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.796G>T; p.E266*; |
breast | carcinoma |
c.646+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1311G>C; p.W437C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.508-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.734T>C; p.M245T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.155G>T; p.R52I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1381A>C; p.T461P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.29T>C; p.I10T; |
urinary_tract; bladder | carcinoma |
c.749G>A; p.R250Q; |
urinary_tract; bladder | carcinoma |
c.1195G>T; p.E399*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.218A>C; p.D73A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.606C>T; p.S202S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.423_425delAGA; p.E143delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1106C>A; p.P369H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1221G>A; p.T407T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.52G>T; p.D18Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.155G>T; p.R52I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.203G>A; p.R68Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1278T>C; p.C426C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.728A>T; p.Y243F; |
breast | carcinoma |
c.1175C>T; p.S392L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1025G>A; p.G342D; |
cervix | carcinoma; squamous_cell_carcinoma |
c.422C>G; p.S141*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.998C>T; p.S333F; |
breast | carcinoma |
c.748C>T; p.R250W; |
breast | carcinoma |
c.1220C>T; p.T407M; |
breast | carcinoma |
c.660_661insG; p.V222fs*13; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.202C>T; p.R68*; |
breast | carcinoma |
c.1345C>T; p.R449*; |
urinary_tract; bladder | carcinoma |
c.449G>A; p.R150K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.608T>G; p.L203R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |