Entrez Gene

Basic Information
Gene ID	7049
Name	TGFBR3
Synonymous	transforming growth factor, beta receptor III;TGFBR3;transforming growth factor, beta receptor III
Definition	TGF-beta receptor type 3\|TGF-beta receptor type III\|TGFR-3\|betaglycan proteoglycan\|transforming growth factor beta receptor type 3
Position	1p33-p32
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2240C>T; p.T747M; 1:91708710-91708710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1321C>T; p.P441S; 1:91719985-91719985	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.956A>G; p.D319G; 1:91722074-91722074	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2300G>A; p.S767N; 1:91698118-91698118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.216A>G; p.A72A; 1:91797317-91797317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2472C>T; p.S824S; 1:91683823-91683823	skin	malignant_melanoma	Substitution - coding silent
c.528A>G; p.E176E; 1:91734816-91734816	thyroid	carcinoma	Substitution - coding silent
c.1653G>A; p.P551P; 1:91716622-91716622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.581C>A; p.P194H; 1:91729961-91729961	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>T; p.G56C; 1:91797367-91797367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.F193F; 1:91729963-91729963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2429C>A; p.S810Y; 1:91695680-91695680	breast	carcinoma	Substitution - Missense
c.52G>T; p.A18S; 1:91861480-91861480	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1071T>G; p.N357K; 1:91721959-91721959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416T>A; p.W806R; 1:91695693-91695693	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2346G>T; p.L782L; 1:91695763-91695763	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.795_796GG>AC; p.V266L; 1:91727748-91727749	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.391G>A; p.E131K; 1:91734953-91734953	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.289C>A; p.H97N; 1:91758708-91758708	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.128T>C; p.M43T; 1:91797405-91797405	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.600G>T; p.G200G; 1:91729942-91729942	skin	malignant_melanoma	Substitution - coding silent
c.2410G>T; p.A804S; 1:91695699-91695699	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2127G>T; p.L709L; 1:91712282-91712282	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.189G>T; p.E63D; 1:91797344-91797344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1102C>A; p.H368N; 1:91720204-91720204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1419T>C; p.S473S; 1:91719459-91719459	prostate	carcinoma	Substitution - coding silent
c.1448T>G; p.L483W; 1:91719430-91719430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>G; p.S322*; 1:91722065-91722065	ovary	other; neoplasm	Substitution - Nonsense
c.280C>T; p.H94Y; 1:91758717-91758717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1779C>G; p.F593L; 1:91716323-91716323	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2278G>T; p.E760*; 1:91708672-91708672	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.684G>T; p.Q228H; 1:91729858-91729858	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.738T>C; p.S246S; 1:91727806-91727806	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.61+2T>C; p.?; 1:91861469-91861469	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1460G>T; p.C487F; 1:91719418-91719418	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1394_1395delTA; p.V465fs*50; 1:91719911-91719912	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2107C>G; p.L703V; 1:91712302-91712302	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2519C>T; p.T840M; 1:91683776-91683776	prostate	adenoma	Substitution - Missense
c.1387G>A; p.V463M; 1:91719919-91719919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1781A>T; p.N594I; 1:91716321-91716321	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.538G>A; p.A180T; 1:91734806-91734806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.232C>T; p.Q78*; 1:91797301-91797301	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.280C>A; p.H94N; 1:91758717-91758717	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1821C>T; p.S607S; 1:91716281-91716281	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1368T>A; p.C456*; 1:91719938-91719938	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1054C>T; p.H352Y; 1:91721976-91721976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2537C>A; p.S846Y; 1:91683758-91683758	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.413C>A; p.S138*; 1:91734931-91734931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1480A>G; p.T494A; 1:91719398-91719398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.854C>A; p.S285Y; 1:91727690-91727690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107C>T; p.S36F; 1:91797426-91797426	skin	malignant_melanoma	Substitution - Missense
c.854C>A; p.S285Y; 1:91727690-91727690	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>A; p.R423Q; 1:91720038-91720038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2527A>T; p.T843S; 1:91683768-91683768	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1616G>C; p.G539A; 1:91716659-91716659	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1377G>A; p.E459E; 1:91719929-91719929	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.702C>T; p.I234I; 1:91729840-91729840	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.531C>A; p.L177L; 1:91734813-91734813	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2320A>T; p.I774F; 1:91698098-91698098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210C>T; p.P404S; 1:91720096-91720096	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1411C>T; p.Q471*; 1:91719895-91719895	skin	malignant_melanoma	Substitution - Nonsense
c.293A>C; p.K98T; 1:91758704-91758704	breast	carcinoma	Substitution - Missense
c.1934C>T; p.S645L; 1:91712475-91712475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1211C>T; p.P404L; 1:91720095-91720095	skin	malignant_melanoma	Substitution - Missense
c.526G>A; p.E176K; 1:91734818-91734818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2133G>A; p.T711T; 1:91712276-91712276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1401delA; p.D468fs*24; 1:91719905-91719905	liver	carcinoma	Deletion - Frameshift
c.494G>A; p.R165Q; 1:91734850-91734850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394T>G; p.V465G; 1:91719912-91719912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>A; p.R165Q; 1:91734850-91734850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1196G>C; p.G399A; 1:91720110-91720110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1946G>T; p.R649M; 1:91712463-91712463	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2156A>G; p.K719R; 1:91712253-91712253	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>G; p.L263V; 1:91727757-91727757	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2202C>T; p.D734D; 1:91708748-91708748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583C>G; p.P195A; 1:91729959-91729959	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1690C>T; p.R564*; 1:91716585-91716585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.531C>T; p.L177L; 1:91734813-91734813	oesophagus	carcinoma	Substitution - coding silent
c.1690C>T; p.R564*; 1:91716585-91716585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1935G>A; p.S645S; 1:91712474-91712474	skin	malignant_melanoma	Substitution - coding silent
c.1293C>T; p.S431S; 1:91720013-91720013	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1246G>A; p.E416K; 1:91720060-91720060	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1942G>A; p.D648N; 1:91712467-91712467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375W; 1:91720183-91720183	stomach	adenocarcinoma	Substitution - Missense
c.1708-1G>C; p.?; 1:91716395-91716395	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1264C>T; p.P422S; 1:91720042-91720042	skin	malignant_melanoma	Substitution - Missense
c.333G>A; p.V111V; 1:91758664-91758664	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.333G>A; p.V111V; 1:91758664-91758664	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1680C>T; p.S560S; 1:91716595-91716595	skin	malignant_melanoma	Substitution - coding silent
c.1414-2A>T; p.?; 1:91719466-91719466	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1025A>C; p.Y342S; 1:91722005-91722005	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1838T>C; p.V613A; 1:91716264-91716264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.977A>G; p.N326S; 1:91722053-91722053	prostate	carcinoma	Substitution - Missense
c.2028T>C; p.F676F; 1:91712381-91712381	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2511C>T; p.I837I; 1:91683784-91683784	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2028T>C; p.F676F; 1:91712381-91712381	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2028T>C; p.F676F; 1:91712381-91712381	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2028T>C; p.F676F; 1:91712381-91712381	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1427C>T; p.S476L; 1:91719451-91719451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1428G>A; p.S476S; 1:91719450-91719450	breast	carcinoma	Substitution - coding silent
c.1519A>G; p.T507A; 1:91719359-91719359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.671C>G; p.S224C; 1:91729871-91729871	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 1:91719356-91719356	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1719C>T; p.S573S; 1:91716383-91716383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.158C>T; p.A53V; 1:91797375-91797375	thyroid	carcinoma	Substitution - Missense
c.578T>C; p.F193S; 1:91729964-91729964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2386G>C; p.V796L; 1:91695723-91695723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1849G>A; p.G617R; 1:91716253-91716253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1672G>A; p.D558N; 1:91716603-91716603	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1205C>T; p.P402L; 1:91720101-91720101	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1806C>T; p.L602L; 1:91716296-91716296	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1904C>T; p.A635V; 1:91712505-91712505	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1060C>T; p.R354W; 1:91721970-91721970	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>T; p.R350I; 1:91721981-91721981	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2076C>A; p.F692L; 1:91712333-91712333	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.872G>A; p.S291N; 1:91727672-91727672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>T; p.A8V; 1:91861509-91861509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.90G>C; p.L30L; 1:91797443-91797443	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1438G>A; p.V480I; 1:91719440-91719440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.282C>A; p.H94Q; 1:91758715-91758715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1280C>T; p.P427L; 1:91720026-91720026	skin	malignant_melanoma	Substitution - Missense
c.391G>C; p.E131Q; 1:91734953-91734953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.603G>T; p.K201N; 1:91729939-91729939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1773C>T; p.I591I; 1:91716329-91716329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2012C>T; p.P671L; 1:91712397-91712397	skin	malignant_melanoma	Substitution - Missense
c.1938C>T; p.N646N; 1:91712471-91712471	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396C>T; p.A799V; 1:91695713-91695713	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.463C>A; p.H155N; 1:91734881-91734881	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2418G>A; p.W806*; 1:91695691-91695691	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1686C>T; p.F562F; 1:91716589-91716589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2300G>C; p.S767T; 1:91698118-91698118	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2064C>T; p.F688F; 1:91712345-91712345	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1469A>C; p.K490T; 1:91719409-91719409	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.D555N; 1:91716612-91716612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.635A>G; p.Y212C; 1:91729907-91729907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.635A>G; p.Y212C; 1:91729907-91729907	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2495G>A; p.S832N; 1:91683800-91683800	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.317C>T; p.S106F; 1:91758680-91758680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.317C>T; p.S106F; 1:91758680-91758680	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.S689N; 1:91712343-91712343	breast	carcinoma	Substitution - Missense
c.1942G>C; p.D648H; 1:91712467-91712467	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1869A>G; p.V623V; 1:91712540-91712540	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2169T>C; p.C723C; 1:91708781-91708781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.542G>T; p.R181I; 1:91734802-91734802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>T; p.R181I; 1:91734802-91734802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100T>C; p.V367A; 1:91720206-91720206	breast	carcinoma	Substitution - Missense
c.2392G>A; p.G798R; 1:91695717-91695717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.96T>A; p.P32P; 1:91797437-91797437	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036C>T; p.P346S; 1:91721994-91721994	skin	malignant_melanoma	Substitution - Missense
c.2214C>A; p.I738I; 1:91708736-91708736	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1708-5_1708-4insT; p.?; 1:91716398-91716399	liver	carcinoma	Unknown
c.1402G>T; p.D468Y; 1:91719904-91719904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2483C>G; p.S828W; 1:91683812-91683812	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2004C>A; p.F668L; 1:91712405-91712405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2181C>T; p.D727D; 1:91708769-91708769	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.360C>A; p.A120A; 1:91758637-91758637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206G>A; p.P402P; 1:91720100-91720100	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1206G>A; p.P402P; 1:91720100-91720100	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.44C>T; p.S15F; 1:91861488-91861488	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1691G>A; p.R564Q; 1:91716584-91716584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.44C>T; p.S15F; 1:91861488-91861488	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.44C>T; p.S15F; 1:91861488-91861488	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.598G>A; p.G200R; 1:91729944-91729944	skin	malignant_melanoma	Substitution - Missense
c.2413T>C; p.L805L; 1:91695696-91695696	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.869G>A; p.G290E; 1:91727675-91727675	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2149C>T; p.P717S; 1:91712260-91712260	skin	malignant_melanoma	Substitution - Missense
c.428C>T; p.S143F; 1:91734916-91734916	skin	malignant_melanoma	Substitution - Missense
c.886-3C>T; p.?; 1:91722147-91722147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]