| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 842 |
Name | CASP9 |
Synonymous | APAF-3|APAF3|CASPASE-9c|ICE-LAP6|MCH6|PPP1R56;caspase 9, apoptosis-related cysteine peptidase;CASP9;caspase 9, apoptosis-related cysteine peptidase |
Definition | ICE-like apoptotic protease 6|apoptotic protease MCH-6|apoptotic protease activating factor 3|caspase-9|protein phosphatase 1, regulatory subunit 56 |
Position | 1p36.21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CASP9 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CASP9_I43_E1splice_region; chr1; 15850561 |
ISPLICE_REGION; -; -/GGGGGCG; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.418G>A; p.G140S; |
oesophagus | carcinoma; adenocarcinoma |
c.408T>C; p.F136F; |
stomach | carcinoma; adenocarcinoma |
c.1236C>A; p.F412L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.884G>T; p.G295V; 1:15694519-15694519 |
kidney | carcinoma; renal_cell_carcinoma |
c.874A>G; p.K292E; |
lung | carcinoma; adenocarcinoma |
c.1037C>A; p.S346Y; |
lung | carcinoma; adenocarcinoma |
c.691G>A; p.V231M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.260C>T; p.S87L; |
prostate | carcinoma |
c.401G>A; p.G134E; 1:15717209-15717209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.135G>T; p.R45R; |
lung | carcinoma; squamous_cell_carcinoma |
c.734A>C; p.Q245P; |
ovary | carcinoma; serous_carcinoma |
c.1009A>G; p.T337A; |
lung | carcinoma; squamous_cell_carcinoma |
c.173T>G; p.L58R; |
lung | carcinoma; adenocarcinoma |
c.990C>A; p.D330E; |
ovary | carcinoma; serous_carcinoma |
c.1179G>A; p.V393V; |
lung | carcinoma; adenocarcinoma |
c.447A>T; p.A149A; |
lung | carcinoma; adenocarcinoma |
c.492C>T; p.L164L; |
lung | carcinoma; squamous_cell_carcinoma |
c.194G>T; p.R65L; |
lung | carcinoma; squamous_cell_carcinoma |
c.194G>C; p.R65P; |
lung | carcinoma; squamous_cell_carcinoma |
c.401G>T; p.G134V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.532C>T; p.R178C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.323C>A; p.P108Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1120T>A; p.W374R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.578G>A; p.R193H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.539G>A; p.R180H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.804T>C; p.N268N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1209C>T; p.C403C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1027G>A; p.V343M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.402A>G; p.G134G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.242G>A; p.G81D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.400G>A; p.G134R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.402A>G; p.G134G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.337C>T; p.P113S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.777G>A; p.S259S; |
breast | carcinoma |
c.465G>T; p.L155L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.869-1G>C; p.?; |
urinary_tract; bladder | carcinoma |
c.373A>C; p.T125P; |
skin | malignant_melanoma |
c.670C>T; p.H224Y; |
skin | malignant_melanoma |
c.1027G>A; p.V343M; |
skin | malignant_melanoma |
c.548C>T; p.S183F; |
skin; mucosal | malignant_melanoma |