lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	842
Symbol	CASP9
Synonymous	APAF-3\|APAF3\|ICE-LAP6\|MCH6\|PPP1R56
Full name	caspase 9, apoptosis-related cysteine peptidase
Gene description	ICE-like apoptotic protease 6\|apoptotic protease MCH-6\|apoptotic protease activating factor 3\|caspase-9\|protein phosphatase 1, regulatory subunit 56
Cytoband	1p36.21
Gene type	protein-coding
Synonymous	MIM:602234; HGNC:HGNC:1511; Ensembl:ENSG00000132906; HPRD:03756; Vega:OTTHUMG00000002256

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.93C>T; p.S31S; 1:15524108-15524108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.93C>T; p.S31S; 1:15524108-15524108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.93C>T; p.S31S; 1:15524108-15524108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1037C>A; p.S346Y; 1:15495284-15495284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.691G>A; p.V231M; 1:15506019-15506019	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.418G>A; p.G140S; 1:15518110-15518110	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.269G>A; p.R90Q; 1:15518259-15518259	ovary	other; neoplasm	Substitution - Missense
c.780C>T; p.V260V; 1:15504699-15504699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.920C>T; p.S307F; 1:15495401-15495401	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.920C>T; p.S307F; 1:15495401-15495401	skin	malignant_melanoma	Substitution - Missense
c.194G>T; p.R65L; 1:15518334-15518334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337C>T; p.P113S; 1:15518191-15518191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.211C>T; p.P71S; 1:15518317-15518317	skin	malignant_melanoma	Substitution - Missense
c.754G>A; p.G252S; 1:15504725-15504725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1236C>A; p.F412L; 1:15492958-15492958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1236C>A; p.F412L; 1:15492958-15492958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.28C>T; p.R10W; 1:15524173-15524173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.884G>T; p.G295V; 1:15495437-15495437	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.539G>A; p.R180H; 1:15506990-15506990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.539G>A; p.R180H; 1:15506990-15506990	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.874A>G; p.K292E; 1:15495447-15495447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>A; p.V343M; 1:15495294-15495294	skin	malignant_melanoma	Substitution - Missense
c.1027G>A; p.V343M; 1:15495294-15495294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.398C>T; p.S133F; 1:15518130-15518130	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.709C>T; p.H237Y; 1:15506001-15506001	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.752A>G; p.Y251C; 1:15504727-15504727	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Substitution - Missense
c.447A>T; p.A149A; 1:15507879-15507879	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.401G>T; p.G134V; 1:15518127-15518127	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.50T>G; p.V17G; 1:15524151-15524151	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50T>G; p.V17G; 1:15524151-15524151	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50T>G; p.V17G; 1:15524151-15524151	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.402A>G; p.G134G; 1:15518126-15518126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.50T>G; p.V17G; 1:15524151-15524151	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.402A>G; p.G134G; 1:15518126-15518126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.361C>A; p.L121I; 1:15518167-15518167	liver	carcinoma	Substitution - Missense
c.361C>A; p.L121I; 1:15518167-15518167	liver	carcinoma	Substitution - Missense
c.132+3_132+4insCGCCCCC; p.?; 1:15524065-15524066	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.548C>T; p.S183F; 1:15506981-15506981	skin; mucosal	malignant_melanoma	Substitution - Missense
c.869-1G>C; p.?; 1:15495453-15495453	urinary_tract; bladder	carcinoma	Unknown
c.978C>T; p.F326F; 1:15495343-15495343	NS	NS	Substitution - coding silent
c.408T>C; p.F136F; 1:15518120-15518120	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.408T>C; p.F136F; 1:15518120-15518120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.323C>A; p.P108Q; 1:15518205-15518205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.C403C; 1:15492985-15492985	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.677C>T; p.A226V; 1:15506033-15506033	breast	carcinoma	Substitution - Missense
c.373A>C; p.T125P; 1:15518155-15518155	skin	malignant_melanoma	Substitution - Missense
c.301C>G; p.P101A; 1:15518227-15518227	breast	carcinoma	Substitution - Missense
c.804T>C; p.N268N; 1:15504675-15504675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.194G>A; p.R65Q; 1:15518334-15518334	urinary_tract; bladder	carcinoma	Substitution - Missense
c.400G>A; p.G134R; 1:15518128-15518128	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.173T>G; p.L58R; 1:15518355-15518355	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.260C>T; p.S87L; 1:15518268-15518268	prostate	carcinoma	Substitution - Missense
c.777G>A; p.S259S; 1:15504702-15504702	breast	carcinoma	Substitution - coding silent
c.1230delA; p.K410fs*>7; 1:15492964-15492964	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.571C>T; p.R191W; 1:15506958-15506958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>A; p.G81D; 1:15518286-15518286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.135G>T; p.R45R; 1:15518393-15518393	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.763G>A; p.G255R; 1:15504716-15504716	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1222C>T; p.R408W; 1:15492972-15492972	liver	carcinoma	Substitution - Missense
c.325G>T; p.V109L; 1:15518203-15518203	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1236C>T; p.F412F; 1:15492958-15492958	skin	malignant_melanoma	Substitution - coding silent
c.532C>T; p.R178C; 1:15506997-15506997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670C>T; p.H224Y; 1:15506040-15506040	skin	malignant_melanoma	Substitution - Missense
c.1120T>A; p.W374R; 1:15493930-15493930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707C>T; p.S236F; 1:15506003-15506003	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.843C>T; p.L281L; 1:15504636-15504636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.990C>A; p.D330E; 1:15495331-15495331	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1009A>G; p.T337A; 1:15495312-15495312	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712G>A; p.G238S; 1:15505998-15505998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.261G>A; p.S87S; 1:15518267-15518267	pancreas	carcinoma	Substitution - coding silent
c.465G>T; p.L155L; 1:15507064-15507064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.578G>A; p.R193H; 1:15506951-15506951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952C>T; p.P318S; 1:15495369-15495369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	thyroid	other; neoplasm	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	thyroid	other; neoplasm	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	thyroid	other; neoplasm	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83C>T; p.A28V; 1:15524118-15524118	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194G>C; p.R65P; 1:15518334-15518334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.492C>T; p.L164L; 1:15507037-15507037	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1179G>A; p.V393V; 1:15493015-15493015	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.734A>C; p.Q245P; 1:15504745-15504745	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation