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	835
Symbol	CASP2
Synonymous	CASP-2\|ICH1\|NEDD-2\|NEDD2\|PPP1R57
Full name	caspase 2, apoptosis-related cysteine peptidase
Gene description	caspase-2\|neural precursor cell expressed developmentally down-regulated protein 2\|protease ICH-1\|protein phosphatase 1, regulatory subunit 57
Cytoband	7q34-q35
Gene type	protein-coding
Synonymous	MIM:600639; HGNC:HGNC:1503; Ensembl:ENSG00000106144; HPRD:02800; Vega:OTTHUMG00000023641

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1282C>T; p.R428W; 7:143304994-143304994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1193C>T; p.A398V; 7:143304749-143304749	large_intestine; colon	carcinoma	Substitution - Missense
c.1193C>T; p.A398V; 7:143304749-143304749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1051G>T; p.E351*; 7:143303867-143303867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.524A>G; p.Q175R; 7:143294278-143294278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>T; p.R197W; 7:143294615-143294615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.549T>G; p.F183L; 7:143294303-143294303	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1189C>T; p.R397W; 7:143304745-143304745	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>T; p.H402H; 7:143304762-143304762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.983G>T; p.G328V; 7:143303799-143303799	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.759G>T; p.E253D; 7:143299934-143299934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.361A>C; p.T121P; 7:143292435-143292435	breast	carcinoma	Substitution - Missense
c.427C>T; p.P143S; 7:143292650-143292650	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906C>T; p.N302N; 7:143300233-143300233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.906C>T; p.N302N; 7:143300233-143300233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.980G>A; p.R327H; 7:143303796-143303796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1148G>T; p.G383V; 7:143304704-143304704	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.871C>T; p.L291F; 7:143300046-143300046	ovary	other; neoplasm	Substitution - Missense
c.905A>G; p.N302S; 7:143300232-143300232	breast	carcinoma	Substitution - Missense
c.391C>T; p.P131S; 7:143292465-143292465	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714T>C; p.Y238Y; 7:143294740-143294740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.801G>A; p.T267T; 7:143299976-143299976	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.462C>A; p.L154L; 7:143292685-143292685	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.514G>T; p.V172F; 7:143294268-143294268	breast	carcinoma	Substitution - Missense
c.695T>G; p.L232R; 7:143294721-143294721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.777A>G; p.A259A; 7:143299952-143299952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.452A>T; p.Y151F; 7:143292675-143292675	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.499A>T; p.N167Y; 7:143294253-143294253	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.114A>G; p.E38E; 7:143291579-143291579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446C>T; p.P149L; 7:143292669-143292669	skin	malignant_melanoma	Substitution - Missense
c.1249C>T; p.R417W; 7:143304961-143304961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.643G>T; p.E215*; 7:143294669-143294669	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.643G>T; p.E215*; 7:143294669-143294669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.595C>T; p.R199C; 7:143294621-143294621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1336T>C; p.F446L; 7:143305048-143305048	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.464G>A; p.R155H; 7:143292687-143292687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.92G>T; p.G31V; 7:143291557-143291557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.Y136Y; 7:143292631-143292631	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.154T>A; p.L52M; 7:143291619-143291619	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.408C>T; p.Y136Y; 7:143292631-143292631	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.689T>C; p.V230A; 7:143294715-143294715	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>T; p.S8F; 7:143288478-143288478	breast	carcinoma	Substitution - Missense
c.750A>C; p.E250D; 7:143299925-143299925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272M; 7:143299989-143299989	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.968A>G; p.D323G; 7:143303784-143303784	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.96G>T; p.M32I; 7:143291561-143291561	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.51G>T; p.L17L; 7:143288506-143288506	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.664G>A; p.G222R; 7:143294690-143294690	ovary	other; neoplasm	Substitution - Missense
c.990C>A; p.D330E; 7:143303806-143303806	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1129A>G; p.M377V; 7:143304685-143304685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793C>T; p.R265*; 7:143299968-143299968	pancreas	carcinoma	Substitution - Nonsense
c.718G>A; p.V240I; 7:143294744-143294744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.200C>T; p.T67I; 7:143291665-143291665	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.540T>C; p.T180T; 7:143294294-143294294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.811A>G; p.I271V; 7:143299986-143299986	liver	carcinoma	Substitution - Missense
c.655C>T; p.R219C; 7:143294681-143294681	skin	malignant_melanoma	Substitution - Missense
c.133G>A; p.V45M; 7:143291598-143291598	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1118-2A>G; p.?; 7:143304672-143304672	oesophagus	carcinoma	Unknown
c.843C>T; p.G281G; 7:143300018-143300018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1081C>T; p.R361C; 7:143303897-143303897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1081C>T; p.R361C; 7:143303897-143303897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1133G>C; p.R378P; 7:143304689-143304689	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.16G>T; p.A6S; 7:143288471-143288471	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>C; p.D287H; 7:143300034-143300034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1101C>T; p.G367G; 7:143303917-143303917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.19G>A; p.G7R; 7:143288474-143288474	skin	malignant_melanoma	Substitution - Missense
c.102T>C; p.P34P; 7:143291567-143291567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.393G>A; p.P131P; 7:143292467-143292467	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.327C>T; p.T109T; 7:143292401-143292401	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1029C>T; p.C343C; 7:143303845-143303845	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1322G>T; p.R441L; 7:143305034-143305034	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.699C>T; p.F233F; 7:143294725-143294725	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.421C>T; p.P141S; 7:143292644-143292644	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1339C>T; p.P447S; 7:143305051-143305051	liver	carcinoma	Substitution - Missense
c.1339C>T; p.P447S; 7:143305051-143305051	liver	carcinoma	Substitution - Missense
c.907G>A; p.A303T; 7:143300234-143300234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1218G>C; p.M406I; 7:143304774-143304774	oesophagus	carcinoma	Substitution - Missense
c.1161C>T; p.I387I; 7:143304717-143304717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.525G>T; p.Q175H; 7:143294279-143294279	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1080G>A; p.T360T; 7:143303896-143303896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1268G>A; p.G423D; 7:143304980-143304980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.159G>T; p.L53F; 7:143291624-143291624	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159G>T; p.L53F; 7:143291624-143291624	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.364C>A; p.L122I; 7:143292438-143292438	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.225+2T>C; p.?; 7:143291692-143291692	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.917C>T; p.P306L; 7:143300244-143300244	skin	malignant_melanoma	Substitution - Missense
c.828delG; p.H277fs*80; 7:143300003-143300003	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.771T>C; p.N257N; 7:143299946-143299946	kidney	other; neoplasm	Substitution - coding silent
c.1235C>T; p.A412V; 7:143304947-143304947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.245G>T; p.S82I; 7:143292319-143292319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>A; p.D347N; 7:143303855-143303855	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.373C>T; p.L125F; 7:143292447-143292447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.346G>T; p.D116Y; 7:143292420-143292420	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.318G>A; p.L106L; 7:143292392-143292392	oesophagus	carcinoma	Substitution - coding silent
c.1118-4G>A; p.?; 7:143304670-143304670	stomach	adenocarcinoma	Unknown
c.1062G>A; p.P354P; 7:143303878-143303878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation