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	3002
Symbol	GZMB
Synonymous	CCPI\|CGL-1\|CGL1\|CSP-B\|CSPB\|CTLA1\|CTSGL1\|HLP\|SECT
Full name	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
Gene description	C11\|CTLA-1\|T-cell serine protease 1-3E\|cathepsin G-like 1\|cytotoxic T-lymphocyte proteinase 2\|cytotoxic serine protease B\|fragmentin 2\|fragmentin-2\|granzyme B\|human lymphocyte protein
Cytoband	14q11.2
Gene type	protein-coding
Synonymous	MIM:123910; HGNC:HGNC:4709; Ensembl:ENSG00000100453; HPRD:00476; Vega:OTTHUMG00000029369

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.240A>G; p.K80K; 14:24632423-24632423	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.240A>G; p.K80K; 14:24632423-24632423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.240A>G; p.K80K; 14:24632423-24632423	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.19C>A; p.L7M; 14:24634142-24634142	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.320A>G; p.N107S; 14:24632343-24632343	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.R120W; 14:24632100-24632100	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.445_446insG; p.Q149fs*28; 14:24632012-24632013	stomach	adenocarcinoma	Insertion - Frameshift
c.435C>T; p.A145A; 14:24632023-24632023	pancreas	carcinoma	Substitution - coding silent
c.125A>G; p.D42G; 14:24632993-24632993	liver	carcinoma	Substitution - Missense
c.125A>G; p.D42G; 14:24632993-24632993	liver	carcinoma	Substitution - Missense
c.321C>T; p.N107N; 14:24632342-24632342	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.N107N; 14:24632342-24632342	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.321C>T; p.N107N; 14:24632342-24632342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.N107N; 14:24632342-24632342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.321C>T; p.N107N; 14:24632342-24632342	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.321C>T; p.N107N; 14:24632342-24632342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.376C>T; p.P126S; 14:24632082-24632082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>T; p.G190W; 14:24631890-24631890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.182delC; p.T61fs*10; 14:24632936-24632936	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.71G>A; p.G24E; 14:24633047-24633047	skin	malignant_melanoma	Substitution - Missense
c.71G>A; p.G24E; 14:24633047-24633047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.593C>T; p.S198F; 14:24631865-24631865	skin	malignant_melanoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280C>G; p.P94A; 14:24632383-24632383	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.558G>A; p.E186E; 14:24631900-24631900	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.452C>T; p.A151V; 14:24632006-24632006	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.484G>A; p.E162K; 14:24631974-24631974	skin	malignant_melanoma	Substitution - Missense
c.164G>A; p.R55Q; 14:24632954-24632954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.164G>A; p.R55Q; 14:24632954-24632954	thyroid	other; neoplasm	Substitution - Missense
c.564C>T; p.C188C; 14:24631894-24631894	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.499G>A; p.V167M; 14:24631959-24631959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.268C>T; p.P90S; 14:24632395-24632395	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.511C>T; p.R171*; 14:24631947-24631947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.511C>T; p.R171*; 14:24631947-24631947	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.511C>T; p.R171*; 14:24631947-24631947	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.520G>A; p.E174K; 14:24631938-24631938	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.520G>A; p.E174K; 14:24631938-24631938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.723G>A; p.K241K; 14:24631092-24631092	skin	malignant_melanoma	Substitution - coding silent
c.342G>A; p.L114L; 14:24632116-24632116	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.436G>A; p.G146S; 14:24632022-24632022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>A; p.G146S; 14:24632022-24632022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11T>C; p.I4T; 14:24634150-24634150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.678T>C; p.P226P; 14:24631137-24631137	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.449C>T; p.T150M; 14:24632009-24632009	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.519C>T; p.C173C; 14:24631939-24631939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.519C>T; p.C173C; 14:24631939-24631939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.519C>T; p.C173C; 14:24631939-24631939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.380T>A; p.L127H; 14:24632078-24632078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.591T>G; p.T197T; 14:24631867-24631867	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.572A>G; p.D191G; 14:24631886-24631886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.544G>A; p.D182N; 14:24631914-24631914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.D56D; 14:24632950-24632950	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.168C>T; p.D56D; 14:24632950-24632950	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.55+10C>A; p.?; 14:24634096-24634096	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.724A>G; p.K242E; 14:24631091-24631091	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.441G>A; p.W147*; 14:24632017-24632017	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.71delG; p.G24fs*16; 14:24633047-24633047	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.312C>G; p.N104K; 14:24632351-24632351	skin	malignant_melanoma	Substitution - Missense
c.608C>T; p.S203F; 14:24631207-24631207	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.625T>C; p.C209R; 14:24631190-24631190	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.486G>T; p.E162D; 14:24631972-24631972	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.66C>T; p.I22I; 14:24633052-24633052	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.15G>A; p.L5L; 14:24634146-24634146	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.739T>C; p.Y247H; 14:24631076-24631076	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.739T>C; p.Y247H; 14:24631076-24631076	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.739T>C; p.Y247H; 14:24631076-24631076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.322G>A; p.D108N; 14:24632341-24632341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739T>C; p.Y247H; 14:24631076-24631076	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.739T>C; p.Y247H; 14:24631076-24631076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.739T>C; p.Y247H; 14:24631076-24631076	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>T; p.R120L; 14:24632099-24632099	urinary_tract; bladder	carcinoma	Substitution - Missense
c.551C>G; p.T184S; 14:24631907-24631907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.508G>T; p.D170Y; 14:24631950-24631950	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.680C>T; p.P227L; 14:24631135-24631135	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.543C>T; p.Y181Y; 14:24631915-24631915	bone; vertebrae	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.587A>C; p.K196T; 14:24631871-24631871	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.169G>A; p.D57N; 14:24632949-24632949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.425G>T; p.C142F; 14:24632033-24632033	liver	carcinoma	Substitution - Missense
c.368C>G; p.A123G; 14:24632090-24632090	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.460G>A; p.G154R; 14:24631998-24631998	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.147C>T; p.C49C; 14:24632971-24632971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.85C>G; p.P29A; 14:24633033-24633033	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.46G>A; p.A16T; 14:24634115-24634115	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.486G>A; p.E162E; 14:24631972-24631972	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.365G>A; p.R122K; 14:24632093-24632093	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation