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	838
Symbol	CASP5
Synonymous	ICE(rel)III\|ICEREL-III\|ICH-3
Full name	caspase 5, apoptosis-related cysteine peptidase
Gene description	CASP-5\|ICE(rel)-III\|TY protease\|caspase 5, apoptosis-related cysteine protease\|caspase-5\|protease ICH-3\|protease TY
Cytoband	11q22.2-q22.3
Gene type	protein-coding
Synonymous	MIM:602665; HGNC:HGNC:1506; Ensembl:ENSG00000137757; HPRD:04048; Vega:OTTHUMG00000048073

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.460G>T; p.E154*; 11:105003309-105003309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.195T>A; p.H65Q; 11:105007273-105007273	kidney	other; neoplasm	Substitution - Missense
c.518A>G; p.E173G; 11:105002179-105002179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518A>G; p.E173G; 11:105002179-105002179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518A>G; p.E173G; 11:105002179-105002179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195T>A; p.H65Q; 11:105007273-105007273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.518A>G; p.E173G; 11:105002179-105002179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 11:105000320-105000320	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.809T>G; p.L270R; 11:105000356-105000356	skin	malignant_melanoma	Substitution - Missense
c.1065A>T; p.R355S; 11:104997476-104997476	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.10G>A; p.G4S; 11:105008930-105008930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.305C>T; p.S102F; 11:105007163-105007163	NS	NS	Substitution - Missense
c.95T>C; p.L32P; 11:105008845-105008845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85A>G; p.I29V; 11:105008855-105008855	skin	malignant_melanoma	Substitution - Missense
c.315G>T; p.K105N; 11:105007153-105007153	breast	carcinoma	Substitution - Missense
c.1043C>A; p.T348K; 11:104998890-104998890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1043C>A; p.T348K; 11:104998890-104998890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043C>A; p.T348K; 11:104998890-104998890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.474G>T; p.L158L; 11:105003295-105003295	liver	carcinoma	Substitution - coding silent
c.474G>T; p.L158L; 11:105003295-105003295	liver	carcinoma	Substitution - coding silent
c.404C>T; p.A135V; 11:105003365-105003365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.875A>T; p.K292M; 11:105000290-105000290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>A; p.A261A; 11:105000382-105000382	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.63C>A; p.N21K; 11:105008877-105008877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.403G>C; p.A135P; 11:105003366-105003366	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.402G>T; p.E134D; 11:105003367-105003367	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.39C>T; p.F13F; 11:105008901-105008901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.133A>C; p.K45Q; 11:105008807-105008807	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.461A>T; p.E154V; 11:105003308-105003308	skin	malignant_melanoma	Substitution - Missense
c.498C>A; p.I166I; 11:105002199-105002199	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.805G>A; p.V269M; 11:105000360-105000360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.512delA; p.K171fs*33; 11:105002185-105002185	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.917A>T; p.E306V; 11:104999016-104999016	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.67G>T; p.V23L; 11:105008873-105008873	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.386C>T; p.P129L; 11:105003383-105003383	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.386C>T; p.P129L; 11:105003383-105003383	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.869A>T; p.K290I; 11:105000296-105000296	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.607A>G; p.M203V; 11:105002090-105002090	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>A; p.A343D; 11:104998905-104998905	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1180C>T; p.P394S; 11:104995821-104995821	skin	malignant_melanoma	Substitution - Missense
c.1087T>G; p.F363V; 11:104997454-104997454	urinary_tract; bladder	carcinoma	Substitution - Missense
c.119C>T; p.S40L; 11:105008821-105008821	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.134-7C>T; p.?; 11:105007341-105007341	urinary_tract; bladder	carcinoma	Unknown
c.341C>T; p.T114I; 11:105007127-105007127	skin	malignant_melanoma	Substitution - Missense
c.352C>T; p.L118F; 11:105007116-105007116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1250G>A; p.G417D; 11:104995751-104995751	skin	malignant_melanoma	Substitution - Missense
c.117G>T; p.K39N; 11:105008823-105008823	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.154_155insT; p.T52fs*3; 11:105007313-105007314	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.731C>T; p.T244M; 11:105000434-105000434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1256G>C; p.*419S; 11:104995745-104995745	lung	carcinoma; adenocarcinoma	Nonstop extension
c.743T>C; p.L248P; 11:105000422-105000422	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.878T>C; p.V293A; 11:105000287-105000287	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.I200I; 11:105002097-105002097	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.261T>G; p.Y87*; 11:105007207-105007207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1208T>C; p.I403T; 11:104995793-104995793	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.E165K; 11:105003276-105003276	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.19C>T; p.Q7*; 11:105008921-105008921	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.975G>T; p.E325D; 11:104998958-104998958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1245T>C; p.F415F; 11:104995756-104995756	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.388C>G; p.L130V; 11:105003381-105003381	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.872C>T; p.P291L; 11:105000293-105000293	skin	malignant_melanoma	Substitution - Missense
c.221A>T; p.H74L; 11:105007247-105007247	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.221A>T; p.H74L; 11:105007247-105007247	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>A; p.I200I; 11:105002097-105002097	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.251delA; p.K84fs*14; 11:105007217-105007217	pleura	pulmonary_blastoma	Deletion - Frameshift
c.648C>T; p.D216D; 11:105002049-105002049	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.451C>A; p.P151T; 11:105003318-105003318	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.108G>A; p.T36T; 11:105008832-105008832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.975G>A; p.E325E; 11:104998958-104998958	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.805G>T; p.V269L; 11:105000360-105000360	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.293T>C; p.I98T; 11:105007175-105007175	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.31G>A; p.D11N; 11:105008909-105008909	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>A; p.E217K; 11:105002048-105002048	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.R385W; 11:104997388-104997388	skin	malignant_melanoma	Substitution - Missense
c.1153C>T; p.R385W; 11:104997388-104997388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.R385W; 11:104997388-104997388	skin	malignant_melanoma	Substitution - Missense
c.1153C>T; p.R385W; 11:104997388-104997388	skin	malignant_melanoma	Substitution - Missense
c.252G>T; p.K84N; 11:105007216-105007216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.775G>A; p.G259R; 11:105000390-105000390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.E165D; 11:105003274-105003274	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.477_478insA; p.N162fs*3; 11:105003291-105003292	lung	carcinoma; non_small_cell_carcinoma	Insertion - Frameshift
c.684G>A; p.V228V; 11:105000481-105000481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.15C>A; p.I5I; 11:105008925-105008925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446T>A; p.L149H; 11:105003323-105003323	liver	carcinoma	Substitution - Missense
c.519G>C; p.E173D; 11:105002178-105002178	liver	carcinoma	Substitution - Missense
c.1251C>A; p.G417G; 11:104995750-104995750	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.519G>C; p.E173D; 11:105002178-105002178	liver	carcinoma	Substitution - Missense
c.519G>C; p.E173D; 11:105002178-105002178	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.311G>A; p.R104Q; 11:105007157-105007157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.291G>A; p.L97L; 11:105007177-105007177	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.635_636AC>TT; p.Y212F; 11:105002061-105002062	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.543C>T; p.I181I; 11:105002154-105002154	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089C>T; p.F363F; 11:104997452-104997452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1048C>T; p.H350Y; 11:104998885-104998885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.522C>G; p.D174E; 11:105002175-105002175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.153_154delAA; p.K51fs*3; 11:105007314-105007315	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.153_154delAA; p.K51fs*3; 11:105007314-105007315	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.40G>A; p.V14M; 11:105008900-105008900	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.286G>C; p.A96P; 11:105007182-105007182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.223G>A; p.D75N; 11:105007245-105007245	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.223G>A; p.D75N; 11:105007245-105007245	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.812T>G; p.L271R; 11:105000353-105000353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.135A>C; p.K45N; 11:105007333-105007333	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.822C>A; p.T274T; 11:105000343-105000343	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.452C>A; p.P151H; 11:105003317-105003317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158G>T; p.K386N; 11:104997383-104997383	pancreas	carcinoma	Substitution - Missense
c.399C>T; p.I133I; 11:105003370-105003370	skin	malignant_melanoma	Substitution - coding silent
c.364C>T; p.Q122*; 11:105007104-105007104	skin	malignant_melanoma	Substitution - Nonsense
c.481A>C; p.K161Q; 11:105003288-105003288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.485_486insA; p.N162fs*3; 11:105003283-105003284	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.562G>C; p.D188H; 11:105002135-105002135	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1169C>A; p.S390*; 11:104995832-104995832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1169C>A; p.S390*; 11:104995832-104995832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.892G>A; p.A298T; 11:105000273-105000273	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.909A>C; p.K303N; 11:104999024-104999024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.385+7T>C; p.?; 11:105007076-105007076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.385+7T>C; p.?; 11:105007076-105007076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.385+7T>C; p.?; 11:105007076-105007076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.346A>G; p.T116A; 11:105007122-105007122	skin	malignant_melanoma	Substitution - Missense
c.485delA; p.N162fs*8; 11:105003284-105003284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.485delA; p.N162fs*8; 11:105003284-105003284	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.485delA; p.N162fs*8; 11:105003284-105003284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.485delA; p.N162fs*8; 11:105003284-105003284	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.485delA; p.N162fs*8; 11:105003284-105003284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.534G>A; p.L178L; 11:105002163-105002163	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.305C>G; p.S102C; 11:105007163-105007163	breast	carcinoma	Substitution - Missense
c.305C>G; p.S102C; 11:105007163-105007163	urinary_tract; bladder	carcinoma	Substitution - Missense
c.749C>T; p.S250F; 11:105000416-105000416	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1086C>T; p.I362I; 11:104997455-104997455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>T; p.S320F; 11:104998974-104998974	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.385C>T; p.P129S; 11:105007083-105007083	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1159-8T>C; p.?; 11:104995850-104995850	liver	carcinoma	Unknown
c.1159-8T>C; p.?; 11:104995850-104995850	liver	carcinoma	Unknown
c.1159-8T>C; p.?; 11:104995850-104995850	liver	carcinoma	Unknown
c.664G>A; p.A222T; 11:105002033-105002033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.872C>G; p.P291R; 11:105000293-105000293	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.519G>T; p.E173D; 11:105002178-105002178	oesophagus	carcinoma	Substitution - Missense
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.468G>C; p.L156L; 11:105003301-105003301	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.137A>G; p.D46G; 11:105007331-105007331	liver	carcinoma	Substitution - Missense
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	liver	carcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.154delA; p.T52fs*26; 11:105007314-105007314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.107C>T; p.T36M; 11:105008833-105008833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107C>T; p.T36M; 11:105008833-105008833	thyroid	carcinoma	Substitution - Missense
c.176T>C; p.L59P; 11:105007292-105007292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.A109T; 11:105007143-105007143	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.581A>T; p.N194I; 11:105002116-105002116	breast	carcinoma	Substitution - Missense
c.241G>A; p.E81K; 11:105007227-105007227	skin	malignant_melanoma	Substitution - Missense
c.241G>A; p.E81K; 11:105007227-105007227	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation