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	7037
Symbol	TFRC
Synonymous	CD71\|T9\|TFR\|TFR1\|TR\|TRFR\|p90
Full name	transferrin receptor
Gene description	transferrin receptor (p90, CD71)\|transferrin receptor protein 1
Cytoband	3q29
Gene type	protein-coding
Synonymous	MIM:190010; HGNC:HGNC:11763; Ensembl:ENSG00000072274; HPRD:01812; Vega:OTTHUMG00000155714

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2257G>A; p.V753I; 3:196051968-196051968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780G>A; p.A594T; 3:196055199-196055199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>A; p.V690I; 3:196052157-196052157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520C>T; p.R174C; 3:196072067-196072067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 3:196072067-196072067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2084C>T; p.S695F; 3:196052141-196052141	skin	malignant_melanoma	Substitution - Missense
c.791T>A; p.F264Y; 3:196069465-196069465	thyroid	other; neoplasm	Substitution - Missense
c.1912A>T; p.S638C; 3:196053546-196053546	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.865C>T; p.P289S; 3:196068067-196068067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1974A>G; p.T658T; 3:196053484-196053484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974A>G; p.T658T; 3:196053484-196053484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.T504T; 3:196060204-196060204	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1512G>A; p.T504T; 3:196060204-196060204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.428C>T; p.T143I; 3:196073936-196073936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613A>T; p.D538V; 3:196058348-196058348	skin	malignant_melanoma	Substitution - Missense
c.1973C>G; p.T658R; 3:196053485-196053485	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2277G>T; p.E759D; 3:196051948-196051948	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2067C>T; p.Y689Y; 3:196052158-196052158	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1402G>A; p.E468K; 3:196062856-196062856	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1817A>G; p.E606G; 3:196055162-196055162	skin	malignant_melanoma	Substitution - Missense
c.1678-2A>G; p.?; 3:196055303-196055303	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1688A>G; p.Y563C; 3:196055291-196055291	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1082C>T; p.S361F; 3:196065559-196065559	NS	malignant_melanoma	Substitution - Missense
c.309A>G; p.G103G; 3:196074055-196074055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.388A>G; p.K130E; 3:196073976-196073976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>C; p.D139H; 3:196073949-196073949	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1941A>G; p.G647G; 3:196053517-196053517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1936C>T; p.R646C; 3:196053522-196053522	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1886G>C; p.R629T; 3:196055093-196055093	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.519delT; p.R174fs*27; 3:196072068-196072068	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.923C>T; p.P308L; 3:196067635-196067635	skin	malignant_melanoma	Substitution - Missense
c.2256C>T; p.D752D; 3:196051969-196051969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1788G>C; p.Q596H; 3:196055191-196055191	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.349C>T; p.P117S; 3:196074015-196074015	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.248T>C; p.I83T; 3:196074116-196074116	central_nervous_system; brain	glioma	Substitution - Missense
c.1404+6C>T; p.?; 3:196062848-196062848	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1722G>A; p.K574K; 3:196055257-196055257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.375T>C; p.D125D; 3:196073989-196073989	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.362G>A; p.R121H; 3:196074002-196074002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.362G>A; p.R121H; 3:196074002-196074002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.932C>A; p.P311H; 3:196067626-196067626	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1157T>A; p.I386N; 3:196065484-196065484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2113G>A; p.G705S; 3:196052112-196052112	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>A; p.L381M; 3:196065500-196065500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1844A>G; p.N615S; 3:196055135-196055135	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.845A>C; p.Y282S; 3:196068087-196068087	breast	carcinoma	Substitution - Missense
c.2092C>T; p.R698*; 3:196052133-196052133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.501G>C; p.L167F; 3:196072086-196072086	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.618C>T; p.N206N; 3:196071465-196071465	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1175T>C; p.V392A; 3:196065466-196065466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.632A>C; p.Y211S; 3:196071451-196071451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2018A>G; p.K673R; 3:196053440-196053440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1674C>T; p.C558C; 3:196058287-196058287	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.69C>T; p.F23F; 3:196075328-196075328	breast	carcinoma	Substitution - coding silent
c.1107A>C; p.E369D; 3:196065534-196065534	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1344T>C; p.I448I; 3:196062914-196062914	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1199-117_1207del126; p.?; 3:196064420-196064545	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.145G>T; p.D49Y; 3:196075252-196075252	breast	carcinoma	Substitution - Missense
c.1658T>C; p.V553A; 3:196058303-196058303	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1658T>C; p.V553A; 3:196058303-196058303	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.27C>G; p.F9L; 3:196077073-196077073	central_nervous_system; brain	glioma	Substitution - Missense
c.229T>G; p.F77V; 3:196075168-196075168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1685A>T; p.D562V; 3:196055294-196055294	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.446A>G; p.E149G; 3:196072141-196072141	skin	malignant_melanoma	Substitution - Missense
c.465T>C; p.R155R; 3:196072122-196072122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.465T>C; p.R155R; 3:196072122-196072122	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.817A>C; p.S273R; 3:196068115-196068115	skin	malignant_melanoma	Substitution - Missense
c.1987G>T; p.A663S; 3:196053471-196053471	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1501C>T; p.L501L; 3:196060215-196060215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.615G>A; p.K205K; 3:196071468-196071468	skin	malignant_melanoma	Substitution - coding silent
c.1546C>G; p.P516A; 3:196058623-196058623	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1546C>G; p.P516A; 3:196058623-196058623	urinary_tract; bladder	carcinoma	Substitution - Missense
c.464G>A; p.R155H; 3:196072123-196072123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>T; p.R155C; 3:196072124-196072124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.464G>A; p.R155H; 3:196072123-196072123	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1264G>A; p.G422S; 3:196064363-196064363	skin; trunk	malignant_melanoma	Substitution - Missense
c.596C>T; p.S199L; 3:196071487-196071487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2156G>A; p.R719H; 3:196052069-196052069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1554T>G; p.T518T; 3:196058615-196058615	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.56C>T; p.S19L; 3:196075341-196075341	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1936C>A; p.R646S; 3:196053522-196053522	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1341C>T; p.S447S; 3:196062917-196062917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1511C>T; p.T504M; 3:196060205-196060205	breast	carcinoma	Substitution - Missense
c.891C>G; p.F297L; 3:196068041-196068041	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548G>A; p.R183H; 3:196072039-196072039	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.26T>C; p.F9S; 3:196077074-196077074	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2009T>C; p.V670A; 3:196053449-196053449	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.455A>C; p.Y152S; 3:196072132-196072132	kidney	other; neoplasm	Substitution - Missense
c.1695T>A; p.Y565*; 3:196055284-196055284	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.329A>G; p.E110G; 3:196074035-196074035	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1013C>G; p.S338C; 3:196067545-196067545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>A; p.G142S; 3:196073940-196073940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.880G>A; p.E294K; 3:196068052-196068052	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1672_1673insT; p.C558fs*17; 3:196058288-196058289	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation