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	2638
Symbol	GC
Synonymous	DBP\|DBP/GC\|GRD3\|HEL-S-51\|VDBG\|VDBP
Full name	group-specific component (vitamin D binding protein)
Gene description	VDB\|epididymis secretory protein Li 51\|gc-globulin\|vitamin D-binding alpha-globulin\|vitamin D-binding protein
Cytoband	4q12-q13
Gene type	protein-coding
Synonymous	MIM:139200; HGNC:HGNC:4187; Ensembl:ENSG00000145321; HPRD:00749; Vega:OTTHUMG00000129915

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.299C>A; p.S100Y; 4:71765606-71765606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1418T>C; p.I473T; 4:71746183-71746183	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.P171L; 4:71763898-71763898	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.232G>A; p.G78R; 4:71768330-71768330	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.18A>G; p.V6V; 4:71784001-71784001	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.748G>A; p.D250N; 4:71758125-71758125	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748G>A; p.D250N; 4:71758125-71758125	skin	malignant_melanoma	Substitution - Missense
c.748G>A; p.D250N; 4:71758125-71758125	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.661T>C; p.S221P; 4:71763448-71763448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.661T>C; p.S221P; 4:71763448-71763448	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1383C>T; p.Y461Y; 4:71752530-71752530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.554T>C; p.M185T; 4:71763856-71763856	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.157C>T; p.P53S; 4:71768405-71768405	skin	malignant_melanoma	Substitution - Missense
c.1240A>G; p.T414A; 4:71754433-71754433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.695G>A; p.R232K; 4:71763414-71763414	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.860A>T; p.D287V; 4:71756886-71756886	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.129-7C>T; p.?; 4:71768440-71768440	skin; leg	malignant_melanoma; nodular	Unknown
c.1091T>G; p.V364G; 4:71755051-71755051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.501C>T; p.Y167Y; 4:71763909-71763909	prostate	carcinoma	Substitution - coding silent
c.871A>G; p.T291A; 4:71756875-71756875	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.726delA; p.V243fs*12; 4:71758147-71758147	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.807C>A; p.A269A; 4:71758066-71758066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.129G>T; p.L43L; 4:71768433-71768433	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.96C>T; p.F32F; 4:71769363-71769363	liver	carcinoma	Substitution - coding silent
c.1039A>G; p.T347A; 4:71755103-71755103	breast	carcinoma	Substitution - Missense
c.96C>T; p.F32F; 4:71769363-71769363	liver	carcinoma	Substitution - coding silent
c.1362C>T; p.S454S; 4:71752551-71752551	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.706C>A; p.L236I; 4:71758167-71758167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.813A>C; p.E271D; 4:71758060-71758060	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.192G>A; p.V64V; 4:71768370-71768370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.228G>A; p.A76A; 4:71768334-71768334	liver	carcinoma	Substitution - coding silent
c.228G>A; p.A76A; 4:71768334-71768334	liver	carcinoma	Substitution - coding silent
c.1069C>T; p.P357S; 4:71755073-71755073	skin	malignant_melanoma	Substitution - Missense
c.75G>A; p.K25K; 4:71769384-71769384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.352G>T; p.E118*; 4:71765553-71765553	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.112G>A; p.E38K; 4:71769347-71769347	skin	malignant_melanoma	Substitution - Missense
c.1256A>C; p.K419T; 4:71754417-71754417	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>A; p.R352K; 4:71755087-71755087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.E72K; 4:71768348-71768348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.I144I; 4:71765473-71765473	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420C>A; p.L474M; 4:71746181-71746181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1287A>C; p.K429N; 4:71752626-71752626	liver	carcinoma	Substitution - Missense
c.916A>T; p.M306L; 4:71756830-71756830	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1307C>A; p.T436K; 4:71752606-71752606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1307C>A; p.T436K; 4:71752606-71752606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1307C>A; p.T436K; 4:71752606-71752606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.129-1G>T; p.?; 4:71768434-71768434	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1216C>T; p.L406L; 4:71754457-71754457	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.356G>A; p.R119Q; 4:71765549-71765549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>C; p.D151H; 4:71765454-71765454	pancreas	carcinoma	Substitution - Missense
c.159C>A; p.P53P; 4:71768403-71768403	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3G>T; p.M1I; 4:71784016-71784016	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1277T>C; p.L426P; 4:71752636-71752636	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1162A>G; p.K388E; 4:71754980-71754980	pancreas	carcinoma	Substitution - Missense
c.799G>A; p.E267K; 4:71758074-71758074	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1162A>G; p.K388E; 4:71754980-71754980	pancreas	carcinoma	Substitution - Missense
c.1162A>G; p.K388E; 4:71754980-71754980	pancreas	carcinoma	Substitution - Missense
c.1162A>G; p.K388E; 4:71754980-71754980	pancreas	carcinoma	Substitution - Missense
c.854T>A; p.L285H; 4:71756892-71756892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1162A>G; p.K388E; 4:71754980-71754980	pancreas	carcinoma	Substitution - Missense
c.733A>T; p.T245S; 4:71758140-71758140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.236C>A; p.A79D; 4:71768326-71768326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.474-1G>A; p.?; 4:71763937-71763937	skin	malignant_melanoma	Unknown
c.394G>A; p.E132K; 4:71765511-71765511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.803C>T; p.S268F; 4:71758070-71758070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182G>A; p.S61N; 4:71768380-71768380	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>T; p.S268F; 4:71758070-71758070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1120G>A; p.E374K; 4:71755022-71755022	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.725A>C; p.K242T; 4:71758148-71758148	skin; extremity	malignant_melanoma	Substitution - Missense
c.84C>A; p.V28V; 4:71769375-71769375	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.56G>C; p.R19T; 4:71783963-71783963	urinary_tract; bladder	carcinoma	Substitution - Missense
c.918G>A; p.M306I; 4:71756828-71756828	skin	malignant_melanoma	Substitution - Missense
c.148A>G; p.R50G; 4:71768414-71768414	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.898T>C; p.C300R; 4:71756848-71756848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1013G>A; p.G338E; 4:71756733-71756733	skin	malignant_melanoma	Substitution - Missense
c.1114C>T; p.L372F; 4:71755028-71755028	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.811G>T; p.E271*; 4:71758062-71758062	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1170T>A; p.P390P; 4:71754503-71754503	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1142C>G; p.S381*; 4:71755000-71755000	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1142C>G; p.S381*; 4:71755000-71755000	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.723A>G; p.Q241Q; 4:71758150-71758150	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.802T>A; p.S268T; 4:71758071-71758071	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.52G>A; p.E18K; 4:71783967-71783967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.461A>C; p.E154A; 4:71765444-71765444	skin; neck	malignant_melanoma	Substitution - Missense
c.52G>A; p.E18K; 4:71783967-71783967	skin; neck	malignant_melanoma	Substitution - Missense
c.1066C>T; p.L356F; 4:71755076-71755076	skin	malignant_melanoma	Substitution - Missense
c.104T>A; p.L35Q; 4:71769355-71769355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1020C>G; p.T340T; 4:71756726-71756726	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1105C>G; p.L369V; 4:71755037-71755037	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.781A>C; p.I261L; 4:71758092-71758092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.138C>A; p.V46V; 4:71768424-71768424	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1266G>C; p.L422L; 4:71752647-71752647	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.964G>C; p.E322Q; 4:71756782-71756782	liver	carcinoma	Substitution - Missense
c.1006G>A; p.D336N; 4:71756740-71756740	skin	malignant_melanoma	Substitution - Missense
c.1062T>C; p.T354T; 4:71755080-71755080	skin	malignant_melanoma	Substitution - coding silent
c.1279A>C; p.K427Q; 4:71752634-71752634	liver	carcinoma	Substitution - Missense
c.937T>A; p.Y313N; 4:71756809-71756809	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.940T>G; p.F314V; 4:71756806-71756806	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.V283I; 4:71756899-71756899	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.424G>A; p.D142N; 4:71765481-71765481	skin	malignant_melanoma	Substitution - Missense
c.476T>C; p.F159S; 4:71763934-71763934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.476T>G; p.F159C; 4:71763934-71763934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.158C>T; p.P53L; 4:71768404-71768404	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.158C>T; p.P53L; 4:71768404-71768404	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.229G>C; p.E77Q; 4:71768333-71768333	liver	carcinoma	Substitution - Missense
c.229G>C; p.E77Q; 4:71768333-71768333	liver	carcinoma	Substitution - Missense
c.1296T>G; p.D432E; 4:71752617-71752617	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1296T>G; p.D432E; 4:71752617-71752617	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1123T>C; p.C375R; 4:71755019-71755019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254A>G; p.D85G; 4:71768308-71768308	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.383A>C; p.H128P; 4:71765522-71765522	breast	carcinoma	Substitution - Missense
c.347G>A; p.G116D; 4:71765558-71765558	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.897T>C; p.C299C; 4:71756849-71756849	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1071G>A; p.P357P; 4:71755071-71755071	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020C>T; p.T340T; 4:71756726-71756726	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.434G>A; p.C145Y; 4:71765471-71765471	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.932G>T; p.C311F; 4:71756814-71756814	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.70G>A; p.E24K; 4:71769389-71769389	skin	malignant_melanoma	Substitution - Missense
c.320G>T; p.G107V; 4:71765585-71765585	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1129G>A; p.D377N; 4:71755013-71755013	skin	malignant_melanoma	Substitution - Missense
c.555G>A; p.M185I; 4:71763855-71763855	skin	malignant_melanoma	Substitution - Missense
c.1096G>T; p.E366*; 4:71755046-71755046	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.77A>C; p.N26T; 4:71769382-71769382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.797G>A; p.C266Y; 4:71758076-71758076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.832-1G>A; p.?; 4:71756915-71756915	urinary_tract; bladder	carcinoma	Unknown
c.149G>C; p.R50T; 4:71768413-71768413	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1376C>T; p.P459L; 4:71752537-71752537	skin; trunk	malignant_melanoma	Substitution - Missense
c.761T>A; p.L254Q; 4:71758112-71758112	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.143A>T; p.Y48F; 4:71768419-71768419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.482G>A; p.W161*; 4:71763928-71763928	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1093C>T; p.L365F; 4:71755049-71755049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160A>C; p.S54R; 4:71768402-71768402	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587C>A; p.T196N; 4:71763823-71763823	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1144A>C; p.T382P; 4:71754998-71754998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953C>T; p.A318V; 4:71756793-71756793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>T; p.E277*; 4:71758044-71758044	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.661T>A; p.S221T; 4:71763448-71763448	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.542G>A; p.S181N; 4:71763868-71763868	skin	malignant_melanoma	Substitution - Missense
c.1373C>T; p.P458L; 4:71752540-71752540	skin	malignant_melanoma	Substitution - Missense
c.975T>G; p.D325E; 4:71756771-71756771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation