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	2071
Symbol	ERCC3
Synonymous	BTF2\|GTF2H\|RAD25\|TFIIH\|XPB
Full name	excision repair cross-complementation group 3
Gene description	BTF2 p89\|DNA excision repair protein ERCC-3\|DNA repair helicase\|DNA repair protein complementing XP-B cells\|TFIIH 89 kDa subunit\|TFIIH basal transcription factor complex 89 kDa subunit\|TFIIH basal transcription factor complex helicase XPB subunit\|TFIIH p8
Cytoband	2q21
Gene type	protein-coding
Synonymous	MIM:133510; HGNC:HGNC:3435; Ensembl:ENSG00000163161; HPRD:00593; Vega:OTTHUMG00000131530

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1762G>T; p.E588*; 2:127272930-127272930	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.627C>A; p.L209L; 2:127289719-127289719	breast	carcinoma	Substitution - coding silent
c.446C>T; p.P149L; 2:127292635-127292635	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2097A>G; p.E699E; 2:127259416-127259416	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1821A>T; p.I607I; 2:127272871-127272871	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.374C>T; p.A125V; 2:127292707-127292707	breast	carcinoma	Substitution - Missense
c.347A>G; p.Y116C; 2:127292734-127292734	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183T>A; p.V728E; 2:127259330-127259330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422T>C; p.D474D; 2:127280552-127280552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1550A>C; p.E517A; 2:127279353-127279353	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.444C>T; p.V148V; 2:127292637-127292637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1002T>G; p.R334R; 2:127288685-127288685	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.973C>T; p.R325*; 2:127288714-127288714	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1869C>T; p.L623L; 2:127271412-127271412	skin	malignant_melanoma	Substitution - coding silent
c.1259C>T; p.S420F; 2:127286786-127286786	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1361T>G; p.V454G; 2:127280613-127280613	breast	carcinoma	Substitution - Missense
c.2156C>T; p.A719V; 2:127259357-127259357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2106G>C; p.A702A; 2:127259407-127259407	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1550A>G; p.E517G; 2:127279353-127279353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1704A>G; p.L568L; 2:127279199-127279199	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1066A>G; p.T356A; 2:127286979-127286979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1021C>T; p.P341S; 2:127288666-127288666	skin	malignant_melanoma	Substitution - Missense
c.510G>A; p.L170L; 2:127290235-127290235	bone; rib	chondrosarcoma	Substitution - coding silent
c.1260C>A; p.S420S; 2:127286785-127286785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671C>A; p.A224D; 2:127289488-127289488	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1127C>A; p.A376D; 2:127286918-127286918	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.853A>G; p.I285V; 2:127288834-127288834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1127C>A; p.A376D; 2:127286918-127286918	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2033G>A; p.R678K; 2:127261259-127261259	urinary_tract; bladder	carcinoma	Substitution - Missense
c.425A>T; p.K142M; 2:127292656-127292656	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.832G>A; p.E278K; 2:127288855-127288855	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1671G>C; p.K557N; 2:127279232-127279232	thyroid	carcinoma	Substitution - Missense
c.1923G>A; p.G641G; 2:127271358-127271358	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.98A>G; p.D33G; 2:127293649-127293649	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1251C>T; p.T417T; 2:127286794-127286794	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.87_88CC>TG; p.A29>?; 2:127293659-127293660	large_intestine; colon	carcinoma; adenocarcinoma	Complex
c.806C>T; p.S269F; 2:127289353-127289353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.789_791delAGA; p.E264delE; 2:127289368-127289370	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1109C>T; p.S370F; 2:127286936-127286936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237C>A; p.L413M; 2:127286808-127286808	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.578T>C; p.V193A; 2:127289768-127289768	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.120G>T; p.S40S; 2:127293627-127293627	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.963G>T; p.E321D; 2:127288724-127288724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.420C>T; p.L140L; 2:127292661-127292661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1549G>T; p.E517*; 2:127279354-127279354	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1789A>T; p.K597*; 2:127272903-127272903	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1326A>G; p.E442E; 2:127286719-127286719	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.149G>C; p.G50A; 2:127293598-127293598	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1947G>T; p.G649G; 2:127261345-127261345	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1947G>T; p.G649G; 2:127261345-127261345	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1947G>T; p.G649G; 2:127261345-127261345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001A>T; p.T667T; 2:127261291-127261291	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1078C>T; p.R360C; 2:127286967-127286967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.774T>A; p.D258E; 2:127289385-127289385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>T; p.Y121Y; 2:127292718-127292718	breast	carcinoma	Substitution - coding silent
c.2167G>A; p.D723N; 2:127259346-127259346	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.292G>T; p.D98Y; 2:127292789-127292789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.528C>T; p.F176F; 2:127289818-127289818	skin	malignant_melanoma	Substitution - coding silent
c.1252A>C; p.K418Q; 2:127286793-127286793	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.528C>T; p.F176F; 2:127289818-127289818	skin	malignant_melanoma	Substitution - coding silent
c.1420G>T; p.D474Y; 2:127280554-127280554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1126G>T; p.A376S; 2:127286919-127286919	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1469A>G; p.E490G; 2:127280505-127280505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.589T>C; p.C197R; 2:127289757-127289757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1549G>A; p.E517K; 2:127279354-127279354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.200T>C; p.L67P; 2:127293547-127293547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2224C>T; p.R742W; 2:127257721-127257721	skin	malignant_melanoma	Substitution - Missense
c.1371C>T; p.I457I; 2:127280603-127280603	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.162T>C; p.D54D; 2:127293585-127293585	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.51G>A; p.R17R; 2:127293696-127293696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.610G>A; p.G204R; 2:127289736-127289736	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1841C>T; p.S614L; 2:127271440-127271440	skin	malignant_melanoma	Substitution - Missense
c.1841C>T; p.S614L; 2:127271440-127271440	skin	malignant_melanoma	Substitution - Missense
c.1841C>T; p.S614L; 2:127271440-127271440	skin	malignant_melanoma	Substitution - Missense
c.570G>T; p.Q190H; 2:127289776-127289776	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1751C>T; p.T584M; 2:127272941-127272941	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1976T>C; p.F659S; 2:127261316-127261316	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.94A>G; p.N32D; 2:127293653-127293653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1976T>C; p.F659S; 2:127261316-127261316	stomach	adenocarcinoma	Substitution - Missense
c.2246C>T; p.S749F; 2:127257699-127257699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042C>T; p.L348L; 2:127287003-127287003	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.836A>C; p.E279A; 2:127288851-127288851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1435G>A; p.D479N; 2:127280539-127280539	liver	carcinoma	Substitution - Missense
c.855C>T; p.I285I; 2:127288832-127288832	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1934G>A; p.R645Q; 2:127271347-127271347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.410C>T; p.T137I; 2:127292671-127292671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1150A>T; p.I384F; 2:127286895-127286895	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1934G>A; p.R645Q; 2:127271347-127271347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1934G>A; p.R645Q; 2:127271347-127271347	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1588C>T; p.R530*; 2:127279315-127279315	pancreas	carcinoma	Substitution - Nonsense
c.1588C>T; p.R530*; 2:127279315-127279315	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.319G>T; p.V107L; 2:127292762-127292762	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.854T>C; p.I285T; 2:127288833-127288833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.974G>A; p.R325Q; 2:127288713-127288713	breast	carcinoma	Substitution - Missense
c.854T>C; p.I285T; 2:127288833-127288833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1743C>T; p.Y581Y; 2:127272949-127272949	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.305C>A; p.A102D; 2:127292776-127292776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1743C>T; p.Y581Y; 2:127272949-127272949	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2132A>G; p.Q711R; 2:127259381-127259381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1827+10G>A; p.?; 2:127272855-127272855	liver	carcinoma	Unknown
c.1827+10G>A; p.?; 2:127272855-127272855	liver	carcinoma	Unknown
c.330A>G; p.P110P; 2:127292751-127292751	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1900C>T; p.R634C; 2:127271381-127271381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>T; p.Y410Y; 2:127286815-127286815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2105C>T; p.A702V; 2:127259408-127259408	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2080G>A; p.A694T; 2:127259433-127259433	ovary	other; neoplasm	Substitution - Missense
c.279C>T; p.Y93Y; 2:127292802-127292802	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1996G>A; p.D666N; 2:127261296-127261296	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2291C>T; p.S764L; 2:127257654-127257654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1762delG; p.E588fs*23; 2:127272930-127272930	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2016C>T; p.Y672Y; 2:127261276-127261276	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183G>A; p.D395N; 2:127286862-127286862	large_intestine; colon	NS	Substitution - Missense
c.1155C>T; p.D385D; 2:127286890-127286890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1183G>A; p.D395N; 2:127286862-127286862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1155C>T; p.D385D; 2:127286890-127286890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.145T>C; p.S49P; 2:127293602-127293602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1354C>T; p.R452*; 2:127280620-127280620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1672A>C; p.I558L; 2:127279231-127279231	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1672A>C; p.I558L; 2:127279231-127279231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1277T>C; p.V426A; 2:127286768-127286768	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.203A>C; p.K68T; 2:127293544-127293544	breast	carcinoma	Substitution - Missense
c.699C>T; p.S233S; 2:127289460-127289460	skin	malignant_melanoma	Substitution - coding silent
c.1608G>T; p.M536I; 2:127279295-127279295	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1608G>T; p.M536I; 2:127279295-127279295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.V177I; 2:127289817-127289817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1744G>A; p.G582R; 2:127272948-127272948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1221T>C; p.I407I; 2:127286824-127286824	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.216C>T; p.T72T; 2:127293531-127293531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1827+7G>A; p.?; 2:127272858-127272858	stomach	adenocarcinoma	Unknown
c.1821A>G; p.I607M; 2:127272871-127272871	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1843T>C; p.F615L; 2:127271438-127271438	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1256G>T; p.R419M; 2:127286789-127286789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.226C>A; p.L76I; 2:127293521-127293521	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1099T>C; p.S367P; 2:127286946-127286946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1561G>T; p.E521*; 2:127279342-127279342	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1027+2T>G; p.?; 2:127288658-127288658	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1404G>A; p.A468A; 2:127280570-127280570	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569G>C; p.V523V; 2:127279334-127279334	skin; leg	malignant_melanoma; nodular	Substitution - coding silent
c.1468G>A; p.E490K; 2:127280506-127280506	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2243G>T; p.S748I; 2:127257702-127257702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.918C>G; p.I306M; 2:127288769-127288769	ovary	other; neoplasm	Substitution - Missense
c.1459A>C; p.K487Q; 2:127280515-127280515	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.893G>T; p.R298L; 2:127288794-127288794	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.700C>G; p.R234G; 2:127289459-127289459	skin	malignant_melanoma	Substitution - Missense
c.1544C>G; p.S515C; 2:127279359-127279359	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584G>T; p.K528N; 2:127279319-127279319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.411C>T; p.T137T; 2:127292670-127292670	prostate	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation