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	2072
Symbol	ERCC4
Synonymous	ERCC11\|FANCQ\|RAD1\|XPF
Full name	excision repair cross-complementation group 4
Gene description	DNA excision repair protein ERCC-4\|DNA repair endonuclease XPF\|DNA repair protein complementing XP-F cells\|excision repair cross-complementing rodent repair deficiency, complementation group 4\|excision-repair, complementing defective, in Chinese hamster\|x
Cytoband	16p13.12
Gene type	protein-coding
Synonymous	MIM:133520; HGNC:HGNC:3436; Ensembl:ENSG00000175595; HPRD:00594; Vega:OTTHUMG00000048194

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2017+2T>C; p.?; 16:13944837-13944837	stomach	carcinoma; adenocarcinoma	Unknown
c.1440C>T; p.T480T; 16:13935372-13935372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383T>G; p.F795V; 16:13947979-13947979	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1571G>A; p.S524N; 16:13935503-13935503	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2187C>T; p.I729I; 16:13947783-13947783	breast	carcinoma	Substitution - coding silent
c.1732G>A; p.V578M; 16:13935664-13935664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>T; p.P522L; 16:13935497-13935497	liver	carcinoma	Substitution - Missense
c.2358C>T; p.S786S; 16:13947954-13947954	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.1283C>T; p.A428V; 16:13935215-13935215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.145C>A; p.L49I; 16:13920310-13920310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>A; p.E210K; 16:13928071-13928071	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1880A>T; p.K627M; 16:13937834-13937834	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.2340C>T; p.S780S; 16:13947936-13947936	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1075G>T; p.E359*; 16:13932258-13932258	breast	carcinoma	Substitution - Nonsense
c.2338T>C; p.S780P; 16:13947934-13947934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2340C>T; p.S780S; 16:13947936-13947936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2169C>T; p.C723C; 16:13947765-13947765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1260G>A; p.L420L; 16:13935192-13935192	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2608G>A; p.V870I; 16:13948204-13948204	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.692A>G; p.D231G; 16:13928135-13928135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2501A>C; p.D834A; 16:13948097-13948097	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1747G>A; p.A583T; 16:13935679-13935679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1747G>A; p.A583T; 16:13935679-13935679	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1747G>A; p.A583T; 16:13935679-13935679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1486C>T; p.Q496*; 16:13935418-13935418	skin	malignant_melanoma	Substitution - Nonsense
c.22C>A; p.R8R; 16:13920187-13920187	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2490_2501del12; p.I831_D834delITAD; 16:13948086-13948097	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.472C>T; p.R158C; 16:13926644-13926644	liver	carcinoma	Substitution - Missense
c.472C>T; p.R158C; 16:13926644-13926644	liver	carcinoma	Substitution - Missense
c.2479A>G; p.T827A; 16:13948075-13948075	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>C; p.K487N; 16:13935393-13935393	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1712A>G; p.H571R; 16:13935644-13935644	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.822G>A; p.W274*; 16:13930739-13930739	prostate	carcinoma	Substitution - Nonsense
c.822G>A; p.W274*; 16:13930739-13930739	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2214C>T; p.N738N; 16:13947810-13947810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2307C>T; p.L769L; 16:13947903-13947903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.186C>G; p.L62L; 16:13920351-13920351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1284G>A; p.A428A; 16:13935216-13935216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2346T>C; p.N782N; 16:13947942-13947942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1621G>C; p.D541H; 16:13935553-13935553	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2506G>A; p.E836K; 16:13948102-13948102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1079A>G; p.K360R; 16:13932262-13932262	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2410C>T; p.P804S; 16:13948006-13948006	skin	malignant_melanoma	Substitution - Missense
c.944C>T; p.A315V; 16:13930861-13930861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392C>G; p.L798V; 16:13947988-13947988	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.758C>T; p.S253F; 16:13928201-13928201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2384T>G; p.F795C; 16:13947980-13947980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2172G>A; p.V724V; 16:13947768-13947768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1451C>T; p.T484I; 16:13935383-13935383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2161G>A; p.E721K; 16:13947757-13947757	skin; trunk	malignant_melanoma	Substitution - Missense
c.2084T>C; p.L695P; 16:13947680-13947680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.537A>G; p.E179E; 16:13926709-13926709	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1085A>G; p.E362G; 16:13932268-13932268	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2479A>T; p.T827S; 16:13948075-13948075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.905A>G; p.D302G; 16:13930822-13930822	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.847T>A; p.S283T; 16:13930764-13930764	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.847T>A; p.S283T; 16:13930764-13930764	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2716G>C; p.A906P; 16:13948312-13948312	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2065C>T; p.R689C; 16:13947661-13947661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1303C>T; p.L435F; 16:13935235-13935235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1678T>C; p.C560R; 16:13935610-13935610	ovary	other; neoplasm	Substitution - Missense
c.1002G>A; p.S334S; 16:13932185-13932185	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1731C>T; p.Y577Y; 16:13935663-13935663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1946G>C; p.R649T; 16:13944764-13944764	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1633G>A; p.G545R; 16:13935565-13935565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1097G>T; p.G366V; 16:13932280-13932280	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1786G>A; p.A596T; 16:13935718-13935718	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.V304V; 16:13930829-13930829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1018C>T; p.R340*; 16:13932201-13932201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1018C>T; p.R340*; 16:13932201-13932201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.307C>G; p.Q103E; 16:13922130-13922130	liver	carcinoma	Substitution - Missense
c.2646C>T; p.D882D; 16:13948242-13948242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1546C>T; p.R516*; 16:13935478-13935478	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.208-7G>T; p.?; 16:13922024-13922024	kidney	other; neoplasm	Unknown
c.2442G>A; p.E814E; 16:13948038-13948038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.35T>C; p.M12T; 16:13920200-13920200	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1290C>T; p.A430A; 16:13935222-13935222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.239G>A; p.G80E; 16:13922062-13922062	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102+3A>G; p.?; 16:13932288-13932288	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1805C>T; p.P602L; 16:13935737-13935737	skin	malignant_melanoma	Substitution - Missense
c.420C>T; p.I140I; 16:13926592-13926592	skin; arm	malignant_melanoma	Substitution - coding silent
c.680C>T; p.T227I; 16:13928123-13928123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.389-9delC; p.?; 16:13926552-13926552	thyroid	carcinoma; anaplastic_carcinoma	Unknown
c.2074C>T; p.R692*; 16:13947670-13947670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.694A>T; p.I232F; 16:13928137-13928137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.572A>G; p.Y191C; 16:13926744-13926744	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.694A>T; p.I232F; 16:13928137-13928137	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2426C>T; p.T809M; 16:13948022-13948022	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.S459L; 16:13935308-13935308	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2619C>T; p.I873I; 16:13948215-13948215	skin	malignant_melanoma	Substitution - coding silent
c.2619C>T; p.I873I; 16:13948215-13948215	skin	malignant_melanoma	Substitution - coding silent
c.2619C>T; p.I873I; 16:13948215-13948215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2542C>T; p.P848S; 16:13948138-13948138	NS	malignant_melanoma	Substitution - Missense
c.1768C>T; p.Q590*; 16:13935700-13935700	skin	malignant_melanoma	Substitution - Nonsense
c.1370A>G; p.D457G; 16:13935302-13935302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2536C>T; p.P846S; 16:13948132-13948132	skin	malignant_melanoma	Substitution - Missense
c.2592C>A; p.R864R; 16:13948188-13948188	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1831G>A; p.G611R; 16:13937785-13937785	central_nervous_system; brain	glioma	Substitution - Missense
c.453C>G; p.L151L; 16:13926625-13926625	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.1262G>A; p.R421K; 16:13935194-13935194	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2518G>A; p.E840K; 16:13948114-13948114	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2458A>G; p.K820E; 16:13948054-13948054	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.585-2A>G; p.?; 16:13928026-13928026	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2458A>G; p.K820E; 16:13948054-13948054	large_intestine; colon	carcinoma	Substitution - Missense
c.1278T>C; p.L426L; 16:13935210-13935210	pancreas	carcinoma	Substitution - coding silent
c.2312C>T; p.S771F; 16:13947908-13947908	skin	malignant_melanoma	Substitution - Missense
c.1738C>A; p.L580I; 16:13935670-13935670	breast	carcinoma	Substitution - Missense
c.1207G>T; p.G403C; 16:13934296-13934296	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2305C>G; p.L769V; 16:13947901-13947901	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1278T>C; p.L426L; 16:13935210-13935210	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.799C>T; p.R267C; 16:13930716-13930716	breast	carcinoma	Substitution - Missense
c.290G>T; p.R97L; 16:13922113-13922113	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1838C>T; p.S613L; 16:13937792-13937792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1937G>C; p.R646T; 16:13944755-13944755	pancreas	NS	Substitution - Missense
c.1682G>T; p.S561I; 16:13935614-13935614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1310G>T; p.R437M; 16:13935242-13935242	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1765C>T; p.R589W; 16:13935697-13935697	breast	carcinoma	Substitution - Missense
c.2495C>T; p.T832I; 16:13948091-13948091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.40C>T; p.P14S; 16:13920205-13920205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2743delA; p.K916fs?; 16:13948339-13948339	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.448C>T; p.R150C; 16:13926620-13926620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>T; p.E694*; 16:13947676-13947676	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2035G>T; p.G679C; 16:13947631-13947631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.737C>T; p.S246L; 16:13928180-13928180	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.737C>T; p.S246L; 16:13928180-13928180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.499A>G; p.N167D; 16:13926671-13926671	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2647G>A; p.E883K; 16:13948243-13948243	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2516C>T; p.P839L; 16:13948112-13948112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2411C>A; p.P804H; 16:13948007-13948007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1971A>G; p.V657V; 16:13944789-13944789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.354C>A; p.F118L; 16:13922177-13922177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1141T>G; p.W381G; 16:13934230-13934230	breast	carcinoma	Substitution - Missense
c.1634_1644del11; p.I546fs*23; 16:13935566-13935576	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.553C>T; p.L185F; 16:13926725-13926725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2654C>T; p.T885M; 16:13948250-13948250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.209A>G; p.E70G; 16:13922032-13922032	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1783A>C; p.R595R; 16:13935715-13935715	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2474C>T; p.A825V; 16:13948070-13948070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1621G>A; p.D541N; 16:13935553-13935553	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.E79K; 16:13922058-13922058	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2121A>G; p.E707E; 16:13947717-13947717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2170G>T; p.V724L; 16:13947766-13947766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>A; p.P469H; 16:13935338-13935338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1371C>T; p.D457D; 16:13935303-13935303	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2261G>T; p.R754L; 16:13947857-13947857	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.258C>T; p.R86R; 16:13922081-13922081	skin	malignant_melanoma	Substitution - coding silent
c.1075G>C; p.E359Q; 16:13932258-13932258	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1075G>C; p.E359Q; 16:13932258-13932258	urinary_tract; bladder	carcinoma	Substitution - Missense
c.795A>T; p.T265T; 16:13930712-13930712	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.846A>G; p.K282K; 16:13930763-13930763	liver	carcinoma	Substitution - coding silent
c.2531A>G; p.Y844C; 16:13948127-13948127	liver	carcinoma	Substitution - Missense
c.1093G>C; p.E365Q; 16:13932276-13932276	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.770C>T; p.A257V; 16:13928213-13928213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2390G>T; p.R797I; 16:13947986-13947986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2395C>T; p.R799W; 16:13947991-13947991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2401C>A; p.L801I; 16:13947997-13947997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2265C>T; p.P755P; 16:13947861-13947861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2401C>A; p.L801I; 16:13947997-13947997	breast	carcinoma	Substitution - Missense
c.914C>T; p.T305I; 16:13930831-13930831	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2741G>A; p.G914E; 16:13948337-13948337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.319A>T; p.I107L; 16:13922142-13922142	liver	carcinoma	Substitution - Missense
c.2086C>T; p.P696S; 16:13947682-13947682	skin	malignant_melanoma	Substitution - Missense
c.1179A>T; p.A393A; 16:13934268-13934268	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2548G>C; p.D850H; 16:13948144-13948144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>A; p.G130D; 16:13926561-13926561	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1587T>G; p.I529M; 16:13935519-13935519	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.61C>G; p.Q21E; 16:13920226-13920226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2303C>T; p.S768F; 16:13947899-13947899	skin	malignant_melanoma	Substitution - Missense
c.1441A>G; p.K481E; 16:13935373-13935373	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1311G>T; p.R437S; 16:13935243-13935243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.326C>T; p.A109V; 16:13922149-13922149	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation