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	7045
Symbol	TGFBI
Synonymous	BIGH3\|CDB1\|CDG2\|CDGG1\|CSD\|CSD1\|CSD2\|CSD3\|EBMD\|LCD1
Full name	transforming growth factor, beta-induced, 68kDa
Gene description	RGD-CAP\|RGD-containing collagen-associated protein\|beta ig-h3\|kerato-epithelin\|transforming growth factor, beta-induced, 68kD\|transforming growth factor-beta-induced protein ig-h3
Cytoband	5q31
Gene type	protein-coding
Synonymous	MIM:601692; HGNC:HGNC:11771; Ensembl:ENSG00000120708; HPRD:03409; Vega:OTTHUMG00000163213

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.760G>C; p.E254Q; 5:136047409-136047409	breast	carcinoma	Substitution - Missense
c.376G>A; p.E126K; 5:136046412-136046412	skin	malignant_melanoma	Substitution - Missense
c.334G>A; p.V112I; 5:136046370-136046370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1834C>T; p.P612S; 5:136060864-136060864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1124C>G; p.S375*; 5:136053117-136053117	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.525G>A; p.M175I; 5:136046916-136046916	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>A; p.M175I; 5:136046916-136046916	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1241C>T; p.A414V; 5:136054057-136054057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.17G>T; p.R6L; 5:136029072-136029072	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.752A>G; p.D251G; 5:136047401-136047401	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1226G>A; p.R409Q; 5:136054042-136054042	oesophagus	carcinoma	Substitution - Missense
c.370C>T; p.R124C; 5:136046406-136046406	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1006G>A; p.E336K; 5:136052999-136052999	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.406G>A; p.G136S; 5:136046442-136046442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.G298G; 5:136049561-136049561	breast	carcinoma	Substitution - coding silent
c.624G>T; p.G208G; 5:136047015-136047015	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214C>T; p.S405F; 5:136054030-136054030	skin	malignant_melanoma	Substitution - Missense
c.374C>T; p.T125M; 5:136046410-136046410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1726G>A; p.E576K; 5:136059137-136059137	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1726G>A; p.E576K; 5:136059137-136059137	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1726G>A; p.E576K; 5:136059137-136059137	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1726G>A; p.E576K; 5:136059137-136059137	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1231A>G; p.T411A; 5:136054047-136054047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.660C>G; p.A220A; 5:136047309-136047309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1604G>A; p.G535E; 5:136056721-136056721	skin	malignant_melanoma	Substitution - Missense
c.1566C>A; p.I522I; 5:136056683-136056683	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1479G>A; p.T493T; 5:136055748-136055748	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1479G>A; p.T493T; 5:136055748-136055748	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1152A>C; p.A384A; 5:136053968-136053968	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1933G>A; p.E645K; 5:136061526-136061526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1664G>A; p.R555Q; 5:136056781-136056781	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1826A>G; p.N609S; 5:136060856-136060856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.299-1G>T; p.?; 5:136046334-136046334	lung	carcinoma; adenocarcinoma	Unknown
c.969G>A; p.A323A; 5:136052962-136052962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.804G>T; p.M268I; 5:136049471-136049471	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1439C>T; p.A480V; 5:136055708-136055708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1439C>T; p.A480V; 5:136055708-136055708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.895G>A; p.D299N; 5:136049562-136049562	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1861A>C; p.T621P; 5:136060891-136060891	skin	malignant_melanoma	Substitution - Missense
c.1201G>T; p.G401C; 5:136054017-136054017	liver	carcinoma	Substitution - Missense
c.1201G>T; p.G401C; 5:136054017-136054017	liver	carcinoma	Substitution - Missense
c.1520A>T; p.D507V; 5:136055789-136055789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.678C>T; p.N226N; 5:136047327-136047327	prostate	carcinoma	Substitution - coding silent
c.769C>T; p.R257W; 5:136047418-136047418	skin	malignant_melanoma	Substitution - Missense
c.381G>A; p.K127K; 5:136046417-136046417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.771G>T; p.R257R; 5:136047420-136047420	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.596A>G; p.N199S; 5:136046987-136046987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1286C>T; p.A429V; 5:136054737-136054737	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1286C>T; p.A429V; 5:136054737-136054737	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>G; p.I357M; 5:136053064-136053064	breast	carcinoma	Substitution - Missense
c.423C>T; p.F141F; 5:136046459-136046459	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.423C>T; p.F141F; 5:136046459-136046459	pancreas	carcinoma	Substitution - coding silent
c.795C>T; p.L265L; 5:136049462-136049462	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.609C>G; p.H203Q; 5:136047000-136047000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240G>A; p.A414T; 5:136054056-136054056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755C>A; p.T252N; 5:136047404-136047404	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>A; p.L120M; 5:136046394-136046394	breast	carcinoma	Substitution - Missense
c.1211T>C; p.L404P; 5:136054027-136054027	liver	carcinoma	Substitution - Missense
c.1405C>A; p.R469S; 5:136054856-136054856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1211T>C; p.L404P; 5:136054027-136054027	liver	carcinoma	Substitution - Missense
c.2039G>T; p.R680M; 5:136063213-136063213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1949C>T; p.A650V; 5:136061542-136061542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1949C>T; p.A650V; 5:136061542-136061542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1866T>C; p.N622N; 5:136060896-136060896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1087G>T; p.V363L; 5:136053080-136053080	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1087G>T; p.V363L; 5:136053080-136053080	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1405C>T; p.R469C; 5:136054856-136054856	skin	malignant_melanoma	Substitution - Missense
c.366G>A; p.T122T; 5:136046402-136046402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.747C>T; p.I249I; 5:136047396-136047396	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.375G>A; p.T125T; 5:136046411-136046411	skin	malignant_melanoma	Substitution - coding silent
c.382C>T; p.L128L; 5:136046418-136046418	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.625-1G>A; p.?; 5:136047273-136047273	pancreas	carcinoma; ductal_carcinoma	Unknown
c.625-1G>A; p.?; 5:136047273-136047273	pancreas	carcinoma	Unknown
c.625-1G>A; p.?; 5:136047273-136047273	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Unknown
c.1584G>A; p.T528T; 5:136056701-136056701	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1584G>A; p.T528T; 5:136056701-136056701	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.518A>G; p.Y173C; 5:136046909-136046909	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1886C>T; p.T629I; 5:136060916-136060916	skin	malignant_melanoma	Substitution - Missense
c.1504A>G; p.M502V; 5:136055773-136055773	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1201G>A; p.G401S; 5:136054017-136054017	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1201G>A; p.G401S; 5:136054017-136054017	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.842C>A; p.T281N; 5:136049509-136049509	central_nervous_system; brain	glioma	Substitution - Missense
c.1913G>A; p.R638K; 5:136061506-136061506	skin	malignant_melanoma	Substitution - Missense
c.694A>G; p.I232V; 5:136047343-136047343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.864C>G; p.I288M; 5:136049531-136049531	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.828G>A; p.T276T; 5:136049495-136049495	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.828G>A; p.T276T; 5:136049495-136049495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.828G>A; p.T276T; 5:136049495-136049495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.828G>A; p.T276T; 5:136049495-136049495	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1526T>C; p.L509P; 5:136055795-136055795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>T; p.R436W; 5:136054757-136054757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1769A>C; p.K590T; 5:136059180-136059180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953C>T; p.A318V; 5:136052946-136052946	pancreas	carcinoma	Substitution - Missense
c.953C>T; p.A318V; 5:136052946-136052946	pancreas	carcinoma	Substitution - Missense
c.432C>A; p.S144R; 5:136046468-136046468	pancreas	carcinoma	Substitution - Missense
c.16C>T; p.R6W; 5:136029071-136029071	liver	carcinoma	Substitution - Missense
c.16C>T; p.R6W; 5:136029071-136029071	liver	carcinoma	Substitution - Missense
c.981A>G; p.V327V; 5:136052974-136052974	thyroid	other; neoplasm	Substitution - coding silent
c.647G>A; p.R216Q; 5:136047296-136047296	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1379G>A; p.G460D; 5:136054830-136054830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>A; p.E529K; 5:136056702-136056702	skin; trunk	malignant_melanoma	Substitution - Missense
c.1146G>A; p.L382L; 5:136053962-136053962	liver	carcinoma	Substitution - coding silent
c.1781G>T; p.G594V; 5:136059192-136059192	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1146G>A; p.L382L; 5:136053962-136053962	liver	carcinoma	Substitution - coding silent
c.668A>G; p.H223R; 5:136047317-136047317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598G>T; p.R533L; 5:136056715-136056715	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1022G>C; p.G341A; 5:136053015-136053015	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2037G>A; p.E679E; 5:136063211-136063211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1185C>T; p.F395F; 5:136054001-136054001	breast	carcinoma	Substitution - coding silent
c.1341G>A; p.K447K; 5:136054792-136054792	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1377C>T; p.G459G; 5:136054828-136054828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1606G>A; p.V536I; 5:136056723-136056723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1360A>G; p.T454A; 5:136054811-136054811	breast	carcinoma	Substitution - Missense
c.1495_1496insC; p.M502fs*15; 5:136055764-136055765	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.578C>T; p.S193F; 5:136046969-136046969	skin	malignant_melanoma	Substitution - Missense
c.959C>T; p.A320V; 5:136052952-136052952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1267G>T; p.G423*; 5:136054718-136054718	skin	malignant_melanoma	Substitution - Nonsense
c.550G>T; p.E184*; 5:136046941-136046941	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1977G>A; p.A659A; 5:136061570-136061570	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.755C>T; p.T252I; 5:136047404-136047404	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1511C>A; p.T504N; 5:136055780-136055780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1151C>T; p.A384V; 5:136053967-136053967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1825A>C; p.N609H; 5:136060855-136060855	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.513C>T; p.L171L; 5:136046904-136046904	breast	carcinoma	Substitution - coding silent
c.1083C>T; p.N361N; 5:136053076-136053076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.975G>T; p.L325L; 5:136052968-136052968	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1478C>T; p.T493M; 5:136055747-136055747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1478C>T; p.T493M; 5:136055747-136055747	pancreas	carcinoma	Substitution - Missense
c.975G>T; p.L325L; 5:136052968-136052968	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1496delC; p.P501fs*9; 5:136055765-136055765	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1496delC; p.P501fs*9; 5:136055765-136055765	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1831G>A; p.E611K; 5:136060861-136060861	breast	carcinoma	Substitution - Missense
c.1975G>A; p.A659T; 5:136061568-136061568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1442C>T; p.A481V; 5:136055711-136055711	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1058C>T; p.S353F; 5:136053051-136053051	skin	malignant_melanoma	Substitution - Missense
c.1318A>T; p.I440F; 5:136054769-136054769	skin	malignant_melanoma	Substitution - Missense
c.377A>C; p.E126A; 5:136046413-136046413	ovary	other; neoplasm	Substitution - Missense
c.1513G>T; p.V505F; 5:136055782-136055782	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1414C>T; p.L472F; 5:136055683-136055683	breast	carcinoma	Substitution - Missense
c.639C>T; p.N213N; 5:136047288-136047288	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1049C>T; p.A350V; 5:136053042-136053042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.208C>A; p.Q70K; 5:136033836-136033836	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1380_1381insA; p.L463fs*8; 5:136054831-136054832	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.680G>C; p.G227A; 5:136047329-136047329	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.E83K; 5:136044071-136044071	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1230G>A; p.L410L; 5:136054046-136054046	thyroid	carcinoma	Substitution - coding silent
c.1210C>T; p.L404F; 5:136054026-136054026	skin	malignant_melanoma	Substitution - Missense
c.1295G>C; p.R432T; 5:136054746-136054746	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.651G>C; p.L217L; 5:136047300-136047300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.651G>C; p.L217L; 5:136047300-136047300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1496_1497insC; p.M502fs*15; 5:136055765-136055766	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.460-1G>A; p.?; 5:136046850-136046850	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1307G>A; p.R436Q; 5:136054758-136054758	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1597C>A; p.R533R; 5:136056714-136056714	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.697G>A; p.D233N; 5:136047346-136047346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.697G>A; p.D233N; 5:136047346-136047346	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963C>T; p.I321I; 5:136052956-136052956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>A; p.R469H; 5:136054857-136054857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371G>A; p.R124H; 5:136046407-136046407	pancreas	carcinoma	Substitution - Missense
c.2049T>C; p.H683H; 5:136063223-136063223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.713C>T; p.T238I; 5:136047362-136047362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>T; p.T139T; 5:136046453-136046453	skin	malignant_melanoma	Substitution - coding silent
c.417C>T; p.T139T; 5:136046453-136046453	skin	malignant_melanoma	Substitution - coding silent
c.965T>C; p.V322A; 5:136052958-136052958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.234-2_234-1delAG; p.?; 5:136044056-136044057	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.396G>A; p.M132I; 5:136046432-136046432	skin	malignant_melanoma	Substitution - Missense
c.1310A>G; p.N437S; 5:136054761-136054761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation