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	55743
Symbol	CHFR
Synonymous	RNF116\|RNF196
Full name	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
Gene description	E3 ubiquitin-protein ligase CHFR\|RING finger protein 196
Cytoband	12q24.33
Gene type	protein-coding
Synonymous	MIM:605209; HGNC:HGNC:20455; Ensembl:ENSG00000072609; Vega:OTTHUMG00000167930

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.779C>T; p.T260M; 12:132859113-132859113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1474C>A; p.L492M; 12:132848656-132848656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1614C>G; p.L538L; 12:132847077-132847077	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.751G>T; p.A251S; 12:132859141-132859141	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1323C>T; p.H441H; 12:132851700-132851700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.413C>T; p.P138L; 12:132862416-132862416	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.413C>T; p.P138L; 12:132862416-132862416	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.726C>T; p.T242T; 12:132859166-132859166	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1012A>G; p.M338V; 12:132856598-132856598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.725C>T; p.T242I; 12:132859167-132859167	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949C>G; p.L317V; 12:132857435-132857435	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1219G>A; p.E407K; 12:132853497-132853497	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.939C>T; p.I313I; 12:132857445-132857445	skin	malignant_melanoma	Substitution - coding silent
c.1465T>A; p.Y489N; 12:132848665-132848665	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.580C>A; p.P194T; 12:132861551-132861551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.709C>T; p.R237C; 12:132859183-132859183	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1802G>A; p.R601H; 12:132843038-132843038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064G>A; p.R355Q; 12:132856546-132856546	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1812G>A; p.V604V; 12:132843028-132843028	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1399C>T; p.Q467*; 12:132851624-132851624	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1399C>T; p.Q467*; 12:132851624-132851624	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.349G>T; p.A117S; 12:132870778-132870778	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>T; p.Q467*; 12:132851624-132851624	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.206C>T; p.S69L; 12:132877582-132877582	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.617C>T; p.P206L; 12:132861514-132861514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1061G>T; p.R354M; 12:132856549-132856549	liver	carcinoma	Substitution - Missense
c.1061G>T; p.R354M; 12:132856549-132856549	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.604delT; p.S202fs*14; 12:132861527-132861527	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.596C>T; p.A199V; 12:132861535-132861535	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.596C>T; p.A199V; 12:132861535-132861535	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.289_290delTT; p.L97fs*14; 12:132872338-132872339	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1015G>C; p.D339H; 12:132856595-132856595	urinary_tract; bladder	carcinoma	Substitution - Missense
c.927T>C; p.C309C; 12:132857457-132857457	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1386G>A; p.P462P; 12:132851637-132851637	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1386G>A; p.P462P; 12:132851637-132851637	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1063C>T; p.R355W; 12:132856547-132856547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.209G>A; p.G70D; 12:132877579-132877579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1063C>T; p.R355W; 12:132856547-132856547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.S202L; 12:132861526-132861526	skin	malignant_melanoma	Substitution - Missense
c.605C>T; p.S202L; 12:132861526-132861526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.609G>A; p.S203S; 12:132861522-132861522	pancreas	carcinoma	Substitution - coding silent
c.653A>G; p.K218R; 12:132861478-132861478	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1067C>A; p.S356Y; 12:132856543-132856543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.R388Q; 12:132853553-132853553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.R388Q; 12:132853553-132853553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>T; p.Q449*; 12:132851678-132851678	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.989G>A; p.R330H; 12:132856621-132856621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>T; p.Q207*; 12:132861512-132861512	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1025A>G; p.N342S; 12:132856585-132856585	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1030A>G; p.I344V; 12:132856580-132856580	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1458_1459insAACTGCTAC; p.T486_G487insNCY; 12:132848671-132848672	skin	malignant_melanoma	Insertion - In frame
c.846G>A; p.T282T; 12:132857538-132857538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1385C>T; p.P462L; 12:132851638-132851638	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.631G>T; p.D211Y; 12:132861500-132861500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1368_1369GG>AC; p.E457Q; 12:132851654-132851655	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1356C>T; p.P452P; 12:132851667-132851667	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.527G>A; p.G176E; 12:132861604-132861604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1280C>T; p.T427M; 12:132853436-132853436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.146C>T; p.S49F; 12:132877642-132877642	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1269C>T; p.S423S; 12:132853447-132853447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1789G>A; p.G597S; 12:132843051-132843051	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1843A>T; p.I615F; 12:132841583-132841583	skin	malignant_melanoma	Substitution - Missense
c.1393G>A; p.A465T; 12:132851630-132851630	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1388G>C; p.R463P; 12:132851635-132851635	skin	malignant_melanoma	Substitution - Missense
c.813C>T; p.H271H; 12:132859079-132859079	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.852C>T; p.C284C; 12:132857532-132857532	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.775G>A; p.E259K; 12:132859117-132859117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1561-1G>T; p.?; 12:132847131-132847131	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1113A>G; p.S371S; 12:132856497-132856497	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.311A>G; p.Y104C; 12:132872317-132872317	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1266G>T; p.T422T; 12:132853450-132853450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1615G>A; p.V539M; 12:132847076-132847076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1245C>T; p.A415A; 12:132853471-132853471	skin	malignant_melanoma	Substitution - coding silent
c.808C>T; p.L270L; 12:132859084-132859084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.727G>A; p.V243I; 12:132859165-132859165	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1375G>A; p.E459K; 12:132851648-132851648	pancreas	carcinoma	Substitution - Missense
c.1469G>A; p.G490D; 12:132848661-132848661	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.603T>G; p.F201L; 12:132861528-132861528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.642C>T; p.P214P; 12:132861489-132861489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1367C>T; p.A456V; 12:132851656-132851656	prostate	adenoma	Substitution - Missense
c.1367C>T; p.A456V; 12:132851656-132851656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1542C>T; p.Y514Y; 12:132848103-132848103	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.279G>A; p.Q93Q; 12:132872349-132872349	skin	malignant_melanoma	Substitution - coding silent
c.814G>A; p.D272N; 12:132859078-132859078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.577C>T; p.L193F; 12:132861554-132861554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1455G>A; p.R485R; 12:132848675-132848675	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.949C>T; p.L317F; 12:132857435-132857435	skin	malignant_melanoma	Substitution - Missense
c.150C>G; p.F50L; 12:132877638-132877638	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1747G>C; p.E583Q; 12:132844036-132844036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1648G>T; p.D550Y; 12:132847043-132847043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1367C>G; p.A456G; 12:132851656-132851656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1224C>T; p.G408G; 12:132853492-132853492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1714A>C; p.T572P; 12:132844069-132844069	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1714A>C; p.T572P; 12:132844069-132844069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1752G>T; p.L584F; 12:132844031-132844031	liver	carcinoma	Substitution - Missense
c.1190C>A; p.A397E; 12:132853526-132853526	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1242G>A; p.Q414Q; 12:132853474-132853474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.504G>A; p.G168G; 12:132861627-132861627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.597G>A; p.A199A; 12:132861534-132861534	oesophagus	carcinoma	Substitution - coding silent
c.951C>T; p.L317L; 12:132857433-132857433	skin	malignant_melanoma	Substitution - coding silent
c.970C>T; p.Q324*; 12:132857414-132857414	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1710G>T; p.E570D; 12:132844073-132844073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.681G>C; p.L227L; 12:132859211-132859211	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.676G>A; p.D226N; 12:132859216-132859216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854G>A; p.Q618Q; 12:132841572-132841572	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.130C>T; p.R44*; 12:132887199-132887199	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1756G>T; p.V586L; 12:132844027-132844027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1409C>T; p.A470V; 12:132848721-132848721	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.253A>G; p.N85D; 12:132872375-132872375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1713G>T; p.L571L; 12:132844070-132844070	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1791C>T; p.G597G; 12:132843049-132843049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791C>T; p.G597G; 12:132843049-132843049	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.1373G>A; p.R458H; 12:132851650-132851650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707C>T; p.P236L; 12:132859185-132859185	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>T; p.R302C; 12:132857480-132857480	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.763G>C; p.D255H; 12:132859129-132859129	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.P179S; 12:132861596-132861596	skin	malignant_melanoma	Substitution - Missense
c.1582T>C; p.L528L; 12:132847109-132847109	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation