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	3981
Symbol	LIG4
Synonymous	LIG4S
Full name	ligase IV, DNA, ATP-dependent
Gene description	DNA joinase\|DNA ligase 4\|DNA ligase IV\|DNA repair enzyme\|polydeoxyribonucleotide synthase [ATP] 4\|polynucleotide ligase\|sealase
Cytoband	13q33-q34
Gene type	protein-coding
Synonymous	MIM:601837; HGNC:HGNC:6601; Ensembl:ENSG00000174405; HPRD:03500; Vega:OTTHUMG00000017328

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2042G>T; p.R681I; 13:108209227-108209227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333G>T; p.E445*; 13:108209936-108209936	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.144delA; p.K48fs*21; 13:108211125-108211125	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.542T>G; p.L181R; 13:108210727-108210727	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.522T>G; p.L174L; 13:108210747-108210747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2501A>T; p.E834V; 13:108208768-108208768	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2428C>G; p.L810V; 13:108208841-108208841	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1945C>T; p.L649F; 13:108209324-108209324	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2678G>T; p.W893L; 13:108208591-108208591	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>A; p.D671N; 13:108209258-108209258	breast	carcinoma	Substitution - Missense
c.1616T>G; p.L539*; 13:108209653-108209653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.313G>C; p.D105H; 13:108210956-108210956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.973A>G; p.I325V; 13:108210296-108210296	liver	carcinoma	Substitution - Missense
c.973A>G; p.I325V; 13:108210296-108210296	liver	carcinoma	Substitution - Missense
c.1770G>A; p.W590*; 13:108209499-108209499	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1420G>T; p.G474*; 13:108209849-108209849	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2306C>T; p.T769I; 13:108208963-108208963	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1791C>T; p.D597D; 13:108209478-108209478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1805T>G; p.L602R; 13:108209464-108209464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2061T>G; p.G687G; 13:108209208-108209208	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.272A>T; p.K91M; 13:108210997-108210997	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.775A>G; p.I259V; 13:108210494-108210494	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1830C>T; p.L610L; 13:108209439-108209439	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029G>A; p.D677N; 13:108209240-108209240	skin	malignant_melanoma	Substitution - Missense
c.2326G>C; p.E776Q; 13:108208943-108208943	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.548A>T; p.Q183L; 13:108210721-108210721	thyroid	other; neoplasm	Substitution - Missense
c.519A>T; p.Q173H; 13:108210750-108210750	liver	carcinoma	Substitution - Missense
c.519A>T; p.Q173H; 13:108210750-108210750	liver	carcinoma	Substitution - Missense
c.1777T>C; p.C593R; 13:108209492-108209492	skin; leg	malignant_melanoma	Substitution - Missense
c.1396A>G; p.I466V; 13:108209873-108209873	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.309A>G; p.G103G; 13:108210960-108210960	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2090C>T; p.T697M; 13:108209179-108209179	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1774G>A; p.E592K; 13:108209495-108209495	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1821T>C; p.S607S; 13:108209448-108209448	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2602G>T; p.D868Y; 13:108208667-108208667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2450C>T; p.T817I; 13:108208819-108208819	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.P231L; 13:108210577-108210577	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.A67T; 13:108211070-108211070	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2222G>A; p.R741H; 13:108209047-108209047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.972A>G; p.Q324Q; 13:108210297-108210297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446A>T; p.N149I; 13:108210823-108210823	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.926G>T; p.G309V; 13:108210343-108210343	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1438A>G; p.M480V; 13:108209831-108209831	liver	carcinoma	Substitution - Missense
c.1438A>G; p.M480V; 13:108209831-108209831	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2612G>A; p.R871H; 13:108208657-108208657	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1547A>G; p.Y516C; 13:108209722-108209722	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2370A>G; p.E790E; 13:108208899-108208899	central_nervous_system; brain	glioma	Substitution - coding silent
c.2202C>A; p.S734R; 13:108209067-108209067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1475C>T; p.P492L; 13:108209794-108209794	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.403C>T; p.P135S; 13:108210866-108210866	pancreas	carcinoma	Substitution - Missense
c.1730G>A; p.R577H; 13:108209539-108209539	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1730G>A; p.R577H; 13:108209539-108209539	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.243C>T; p.A81A; 13:108211026-108211026	skin	malignant_melanoma	Substitution - coding silent
c.75A>T; p.R25R; 13:108211194-108211194	pancreas	carcinoma	Substitution - coding silent
c.1485G>A; p.E495E; 13:108209784-108209784	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1509C>G; p.L503L; 13:108209760-108209760	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1509C>G; p.L503L; 13:108209760-108209760	pancreas	carcinoma	Substitution - coding silent
c.142A>C; p.K48Q; 13:108211127-108211127	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2536C>T; p.R846W; 13:108208733-108208733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>A; p.E387K; 13:108210110-108210110	breast	carcinoma	Substitution - Missense
c.529C>T; p.Q177*; 13:108210740-108210740	pancreas	carcinoma	Substitution - Nonsense
c.691C>T; p.P231S; 13:108210578-108210578	skin	malignant_melanoma	Substitution - Missense
c.457G>T; p.D153Y; 13:108210812-108210812	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1872A>T; p.Q624H; 13:108209397-108209397	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1778G>A; p.C593Y; 13:108209491-108209491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1212G>A; p.Q404Q; 13:108210057-108210057	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1687G>A; p.E563K; 13:108209582-108209582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2411C>T; p.S804F; 13:108208858-108208858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2328A>T; p.E776D; 13:108208941-108208941	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 13:108209756-108209756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2059G>T; p.G687C; 13:108209210-108209210	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2443C>T; p.R815C; 13:108208826-108208826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>T; p.D597Y; 13:108209480-108209480	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1768T>C; p.W590R; 13:108209501-108209501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1768T>C; p.W590R; 13:108209501-108209501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1768T>C; p.W590R; 13:108209501-108209501	large_intestine; colon	carcinoma	Substitution - Missense
c.1768T>C; p.W590R; 13:108209501-108209501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1831G>A; p.A611T; 13:108209438-108209438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2496A>G; p.K832K; 13:108208773-108208773	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.626A>G; p.N209S; 13:108210643-108210643	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.626A>G; p.N209S; 13:108210643-108210643	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810G>A; p.G604R; 13:108209459-108209459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.958A>T; p.K320*; 13:108210311-108210311	breast	carcinoma	Substitution - Nonsense
c.2485C>T; p.L829L; 13:108208784-108208784	skin	malignant_melanoma	Substitution - coding silent
c.1386G>A; p.L462L; 13:108209883-108209883	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.873C>A; p.F291L; 13:108210396-108210396	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2733T>G; p.I911M; 13:108208536-108208536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1756G>A; p.D586N; 13:108209513-108209513	pancreas	carcinoma	Substitution - Missense
c.2091G>A; p.T697T; 13:108209178-108209178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.479C>A; p.S160Y; 13:108210790-108210790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2091G>A; p.T697T; 13:108209178-108209178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.176A>G; p.D59G; 13:108211093-108211093	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2634T>A; p.F878L; 13:108208635-108208635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2561C>T; p.S854F; 13:108208708-108208708	skin	malignant_melanoma	Substitution - Missense
c.2716G>A; p.E906K; 13:108208553-108208553	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1426C>T; p.R476W; 13:108209843-108209843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.282T>G; p.I94M; 13:108210987-108210987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1416T>C; p.G472G; 13:108209853-108209853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2462A>T; p.D821V; 13:108208807-108208807	ovary	other; neoplasm	Substitution - Missense
c.1641A>G; p.V547V; 13:108209628-108209628	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.444A>T; p.V148V; 13:108210825-108210825	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.260C>A; p.T87N; 13:108211009-108211009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.44C>G; p.P15R; 13:108211225-108211225	central_nervous_system; brain	glioma	Substitution - Missense
c.302G>C; p.R101T; 13:108210967-108210967	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1311C>T; p.I437I; 13:108209958-108209958	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.580T>G; p.L194V; 13:108210689-108210689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1912A>G; p.I638V; 13:108209357-108209357	thyroid	carcinoma	Substitution - Missense
c.26C>T; p.T9I; 13:108211243-108211243	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.26C>T; p.T9I; 13:108211243-108211243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738C>G; p.R580G; 13:108209531-108209531	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2465C>T; p.S822L; 13:108208804-108208804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.102A>T; p.E34D; 13:108211167-108211167	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1606A>G; p.S536G; 13:108209663-108209663	liver	carcinoma	Substitution - Missense
c.1606A>G; p.S536G; 13:108209663-108209663	liver	carcinoma	Substitution - Missense
c.134C>A; p.S45Y; 13:108211135-108211135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.637G>A; p.E213K; 13:108210632-108210632	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2608A>G; p.S870G; 13:108208661-108208661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2452G>A; p.V818I; 13:108208817-108208817	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1769G>T; p.W590L; 13:108209500-108209500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1717G>A; p.G573S; 13:108209552-108209552	pancreas	carcinoma	Substitution - Missense
c.493G>T; p.D165Y; 13:108210776-108210776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2168C>G; p.P723R; 13:108209101-108209101	bone; femur	chondrosarcoma	Substitution - Missense
c.833G>A; p.R278H; 13:108210436-108210436	prostate	carcinoma	Substitution - Missense
c.2166G>A; p.K722K; 13:108209103-108209103	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2561C>A; p.S854Y; 13:108208708-108208708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.228A>C; p.E76D; 13:108211041-108211041	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.652A>G; p.T218A; 13:108210617-108210617	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1981G>T; p.D661Y; 13:108209288-108209288	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.875C>T; p.S292F; 13:108210394-108210394	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2412C>A; p.S804S; 13:108208857-108208857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.530A>G; p.Q177R; 13:108210739-108210739	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1067A>T; p.E356V; 13:108210202-108210202	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2385G>T; p.L795L; 13:108208884-108208884	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.640T>C; p.L214L; 13:108210629-108210629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.966T>C; p.D322D; 13:108210303-108210303	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1949C>A; p.T650N; 13:108209320-108209320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>T; p.V217F; 13:108210620-108210620	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2032C>T; p.L678L; 13:108209237-108209237	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001G>C; p.M667I; 13:108209268-108209268	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2447A>G; p.H816R; 13:108208822-108208822	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2447A>G; p.H816R; 13:108208822-108208822	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.512T>G; p.L171R; 13:108210757-108210757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2269G>A; p.E757K; 13:108209000-108209000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2448C>G; p.H816Q; 13:108208821-108208821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2542C>A; p.H848N; 13:108208727-108208727	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1286T>G; p.I429S; 13:108209983-108209983	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.982C>A; p.L328I; 13:108210287-108210287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1286T>G; p.I429S; 13:108209983-108209983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376T>C; p.M459T; 13:108209893-108209893	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1664T>G; p.V555G; 13:108209605-108209605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2410T>G; p.S804A; 13:108208859-108208859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.494A>G; p.D165G; 13:108210775-108210775	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.494A>G; p.D165G; 13:108210775-108210775	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2254G>T; p.E752*; 13:108209015-108209015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1645A>T; p.I549F; 13:108209624-108209624	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.109A>T; p.R37*; 13:108211160-108211160	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2554G>A; p.V852I; 13:108208715-108208715	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2444G>A; p.R815H; 13:108208825-108208825	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2384T>G; p.L795R; 13:108208885-108208885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation