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	23581
Symbol	CASP14
Synonymous	-
Full name	caspase 14, apoptosis-related cysteine peptidase
Gene description	CASP-14\|apoptosis-related cysteine protease\|caspase 14, apoptosis-related cysteine protease\|caspase-14
Cytoband	19p13.1
Gene type	protein-coding
Synonymous	MIM:605848; HGNC:HGNC:1502; Ensembl:ENSG00000105141; HPRD:05788; Vega:OTTHUMG00000183205

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2T>A; p.M1K; 19:15052253-15052253	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.634C>T; p.R212W; 19:15055994-15055994	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.F48F; 19:15053598-15053598	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.502G>A; p.V168I; 19:15055256-15055256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.502G>A; p.V168I; 19:15055256-15055256	central_nervous_system; brain	glioma	Substitution - Missense
c.408A>G; p.Q136Q; 19:15055162-15055162	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.535C>T; p.R179*; 19:15055444-15055444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.174C>T; p.A58A; 19:15053628-15053628	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.535C>T; p.R179*; 19:15055444-15055444	thyroid	carcinoma	Substitution - Nonsense
c.583T>C; p.F195L; 19:15055492-15055492	ovary	other; neoplasm	Substitution - Missense
c.255A>T; p.V85V; 19:15053810-15053810	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.583T>C; p.F195L; 19:15055492-15055492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.345G>T; p.K115N; 19:15053900-15053900	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.521-1G>T; p.?; 19:15055429-15055429	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.287A>T; p.K96M; 19:15053842-15053842	ovary	other; neoplasm	Substitution - Missense
c.361C>T; p.R121*; 19:15053916-15053916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.289G>A; p.G97R; 19:15053844-15053844	skin	malignant_melanoma	Substitution - Missense
c.88G>A; p.E30K; 19:15053542-15053542	skin	malignant_melanoma	Substitution - Missense
c.288G>T; p.K96N; 19:15053843-15053843	ovary	other; neoplasm	Substitution - Missense
c.531C>A; p.A177A; 19:15055440-15055440	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.588G>A; p.T196T; 19:15055497-15055497	skin	malignant_melanoma	Substitution - coding silent
c.426A>G; p.T142T; 19:15055180-15055180	NS	NS	Substitution - coding silent
c.336G>T; p.L112L; 19:15053891-15053891	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.598G>T; p.G200*; 19:15055507-15055507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.509C>T; p.S170F; 19:15055263-15055263	skin; mucosal	malignant_melanoma	Substitution - Missense
c.118G>A; p.E40K; 19:15053572-15053572	skin	malignant_melanoma	Substitution - Missense
c.118G>A; p.E40K; 19:15053572-15053572	skin; arm	malignant_melanoma	Substitution - Missense
c.322C>T; p.L108F; 19:15053877-15053877	skin	malignant_melanoma	Substitution - Missense
c.675G>A; p.R225R; 19:15056035-15056035	skin	malignant_melanoma	Substitution - coding silent
c.670G>C; p.A224P; 19:15056030-15056030	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.585C>A; p.F195L; 19:15055494-15055494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427G>A; p.V143I; 19:15055181-15055181	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.153C>A; p.T51T; 19:15053607-15053607	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.416C>T; p.P139L; 19:15055170-15055170	skin; arm	malignant_melanoma	Substitution - Missense
c.328G>A; p.E110K; 19:15053883-15053883	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.488C>A; p.T163K; 19:15055242-15055242	pancreas	carcinoma	Substitution - Missense
c.37G>A; p.D13N; 19:15053491-15053491	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131G>A; p.R44Q; 19:15053585-15053585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.386T>A; p.I129K; 19:15053941-15053941	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.131G>T; p.R44L; 19:15053585-15053585	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.681G>A; p.T227T; 19:15056041-15056041	skin	malignant_melanoma	Substitution - coding silent
c.365C>A; p.A122D; 19:15053920-15053920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.365C>A; p.A122D; 19:15053920-15053920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.365C>A; p.A122D; 19:15053920-15053920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.145G>A; p.E49K; 19:15053599-15053599	pancreas	carcinoma	Substitution - Missense
c.145G>A; p.E49K; 19:15053599-15053599	oesophagus	carcinoma	Substitution - Missense
c.145G>A; p.E49K; 19:15053599-15053599	skin	malignant_melanoma	Substitution - Missense
c.145G>A; p.E49K; 19:15053599-15053599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.270G>A; p.G90G; 19:15053825-15053825	skin	malignant_melanoma	Substitution - coding silent
c.457A>G; p.K153E; 19:15055211-15055211	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.457A>G; p.K153E; 19:15055211-15055211	breast	carcinoma	Substitution - Missense
c.459A>T; p.K153N; 19:15055213-15055213	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.157A>C; p.K53Q; 19:15053611-15053611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.584T>A; p.F195Y; 19:15055493-15055493	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.630_631CC>TT; p.R211W; 19:15055990-15055991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327C>T; p.F109F; 19:15053882-15053882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.327C>T; p.F109F; 19:15053882-15053882	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.327C>T; p.F109F; 19:15053882-15053882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.684C>T; p.N228N; 19:15056044-15056044	skin	malignant_melanoma	Substitution - coding silent
c.13C>T; p.R5W; 19:15052264-15052264	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.13C>T; p.R5W; 19:15052264-15052264	large_intestine; rectum	NS	Substitution - Missense
c.13C>T; p.R5W; 19:15052264-15052264	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>T; p.R47I; 19:15053594-15053594	prostate	carcinoma	Substitution - Missense
c.109G>A; p.D37N; 19:15053563-15053563	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.267C>T; p.H89H; 19:15053822-15053822	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.541G>A; p.D181N; 19:15055450-15055450	skin	malignant_melanoma	Substitution - Missense
c.541G>A; p.D181N; 19:15055450-15055450	skin	malignant_melanoma	Substitution - Missense
c.541G>A; p.D181N; 19:15055450-15055450	skin	malignant_melanoma	Substitution - Missense
c.707G>A; p.R236Q; 19:15056067-15056067	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.53G>A; p.R18H; 19:15053507-15053507	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.53G>A; p.R18H; 19:15053507-15053507	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.224G>A; p.R75Q; 19:15053779-15053779	haematopoietic_and_lymphoid_tissue; breast	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.183C>T; p.F61F; 19:15053738-15053738	skin	malignant_melanoma	Substitution - coding silent
c.85C>A; p.R29R; 19:15053539-15053539	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.68T>G; p.L23R; 19:15053522-15053522	skin	malignant_melanoma	Substitution - Missense
c.583T>A; p.F195I; 19:15055492-15055492	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.225G>C; p.R75R; 19:15053780-15053780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.489A>T; p.T163T; 19:15055243-15055243	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.177+1G>A; p.?; 19:15053632-15053632	skin	malignant_melanoma	Unknown
c.471A>C; p.Q157H; 19:15055225-15055225	skin	malignant_melanoma	Substitution - Missense
c.573G>T; p.L191L; 19:15055482-15055482	skin; hand	malignant_melanoma	Substitution - coding silent
c.706C>T; p.R236W; 19:15056066-15056066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>C; p.R18P; 19:15053507-15053507	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.250G>A; p.V84M; 19:15053805-15053805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.520+5G>T; p.?; 19:15055279-15055279	lung	carcinoma	Unknown
c.400G>T; p.G134*; 19:15053955-15053955	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.226G>A; p.E76K; 19:15053781-15053781	skin	malignant_melanoma	Substitution - Missense
c.536G>A; p.R179Q; 19:15055445-15055445	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.130C>T; p.R44W; 19:15053584-15053584	skin; mucosal	malignant_melanoma	Substitution - Missense
c.130C>T; p.R44W; 19:15053584-15053584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation