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	7520
Symbol	XRCC5
Synonymous	KARP-1\|KARP1\|KU80\|KUB2\|Ku86\|NFIV
Full name	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
Gene description	86 kDa subunit of Ku antigen\|ATP-dependent DNA helicase 2 subunit 2\|ATP-dependent DNA helicase II 80 kDa subunit\|CTC box-binding factor 85 kDa subunit\|CTC85\|CTCBF\|DNA repair protein XRCC5\|Ku autoantigen, 80kDa\|Ku86 autoantigen related protein 1\|TLAA\|X-ray
Cytoband	2q35
Gene type	protein-coding
Synonymous	MIM:194364; HGNC:HGNC:12833; Ensembl:ENSG00000079246; HPRD:08935; Vega:OTTHUMG00000133059

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1335T>G; p.A445A; 2:216138172-216138172	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1343A>T; p.E448V; 2:216141186-216141186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1187C>T; p.A396V; 2:216137161-216137161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1335T>G; p.A445A; 2:216138172-216138172	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417C>T; p.L473F; 2:216141260-216141260	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.163G>A; p.A55T; 2:216116686-216116686	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1176A>T; p.I392I; 2:216137150-216137150	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1141A>C; p.I381L; 2:216137115-216137115	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.188G>A; p.G63D; 2:216116711-216116711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>G; p.L505V; 2:216148119-216148119	prostate	carcinoma	Substitution - Missense
c.1815G>A; p.K605K; 2:216162029-216162029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1503C>T; p.P501P; 2:216148109-216148109	skin	malignant_melanoma	Substitution - coding silent
c.1612C>T; p.P538S; 2:216148218-216148218	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131G>A; p.R44Q; 2:216113125-216113125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2132C>A; p.P711Q; 2:216204344-216204344	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1812G>T; p.Q604H; 2:216162026-216162026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2053C>G; p.L685V; 2:216194930-216194930	skin	malignant_melanoma	Substitution - Missense
c.706G>A; p.V236I; 2:216125939-216125939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.706G>A; p.V236I; 2:216125939-216125939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.A449T; 2:216141188-216141188	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.391C>T; p.H131Y; 2:216119065-216119065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2188G>A; p.D730N; 2:216205191-216205191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.L362L; 2:216132358-216132358	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.252G>T; p.M84I; 2:216116775-216116775	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2132C>G; p.P711R; 2:216204344-216204344	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.V211A; 2:216122202-216122202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138C>T; p.L380L; 2:216137112-216137112	skin	malignant_melanoma	Substitution - coding silent
c.829A>C; p.T277P; 2:216127566-216127566	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.993G>T; p.M331I; 2:216130930-216130930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.550C>T; p.R184C; 2:216122120-216122120	breast	carcinoma	Substitution - Missense
c.852delA; p.E287fs*11; 2:216127589-216127589	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.852delA; p.E287fs*11; 2:216127589-216127589	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.595G>A; p.E199K; 2:216122165-216122165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.595G>A; p.E199K; 2:216122165-216122165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.309A>G; p.Q103Q; 2:216116832-216116832	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342G>A; p.E448K; 2:216138179-216138179	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.595G>A; p.E199K; 2:216122165-216122165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2146G>T; p.A716S; 2:216204358-216204358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231C>G; p.H411D; 2:216137205-216137205	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.1890G>A; p.P630P; 2:216190280-216190280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1711C>G; p.Q571E; 2:216160108-216160108	ovary	other; neoplasm	Substitution - Missense
c.1711C>G; p.Q571E; 2:216160108-216160108	ovary	other; neoplasm	Substitution - Missense
c.427A>T; p.S143C; 2:216119101-216119101	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.708C>G; p.V236V; 2:216125941-216125941	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1262A>G; p.Y421C; 2:216138099-216138099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.310C>T; p.Q104*; 2:216116833-216116833	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.310C>T; p.Q104*; 2:216116833-216116833	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.174G>A; p.L58L; 2:216116697-216116697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.761G>A; p.G254D; 2:216125994-216125994	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1233T>C; p.H411H; 2:216137207-216137207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2140G>A; p.D714N; 2:216204352-216204352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.88_89CC>TT; p.P30L; 2:216113082-216113083	skin	malignant_melanoma	Substitution - Missense
c.187G>T; p.G63C; 2:216116710-216116710	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.389G>T; p.R130M; 2:216119063-216119063	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1004C>T; p.S335L; 2:216130941-216130941	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1004C>T; p.S335L; 2:216130941-216130941	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1140G>C; p.L380L; 2:216137114-216137114	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.547T>C; p.F183L; 2:216122117-216122117	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2177A>G; p.D726G; 2:216204389-216204389	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1944+2T>C; p.?; 2:216190336-216190336	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1708G>T; p.E570*; 2:216160105-216160105	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1337C>T; p.P446L; 2:216138174-216138174	skin	malignant_melanoma	Substitution - Missense
c.1504C>T; p.R502W; 2:216148110-216148110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.A520T; 2:216148164-216148164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1557C>G; p.P519P; 2:216148163-216148163	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603A>C; p.T535P; 2:216148209-216148209	breast	carcinoma	Substitution - Missense
c.86C>T; p.S29F; 2:216113080-216113080	skin	malignant_melanoma	Substitution - Missense
c.947A>G; p.Y316C; 2:216130884-216130884	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1215_1216CG>TC; p.V405>?; 2:216137189-216137190	lung	carcinoma; adenocarcinoma	Complex
c.1114G>A; p.A372T; 2:216137088-216137088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861G>A; p.E621K; 2:216190251-216190251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861G>A; p.E621K; 2:216190251-216190251	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1861G>A; p.E621K; 2:216190251-216190251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163A>G; p.D388G; 2:216137137-216137137	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.851T>A; p.L284Q; 2:216127588-216127588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767A>G; p.N256S; 2:216126000-216126000	thyroid	carcinoma	Substitution - Missense
c.1673A>G; p.H558R; 2:216160070-216160070	liver	carcinoma	Substitution - Missense
c.1234A>G; p.I412V; 2:216137208-216137208	liver	carcinoma	Substitution - Missense
c.1673A>G; p.H558R; 2:216160070-216160070	liver	carcinoma	Substitution - Missense
c.2179G>A; p.D727N; 2:216204391-216204391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2179G>A; p.D727N; 2:216204391-216204391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556G>A; p.G186S; 2:216122126-216122126	skin	malignant_melanoma	Substitution - Missense
c.1071G>T; p.M357I; 2:216132345-216132345	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1927C>T; p.R643W; 2:216190317-216190317	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.25G>A; p.A9T; 2:216113019-216113019	thyroid	carcinoma	Substitution - Missense
c.1927C>T; p.R643W; 2:216190317-216190317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1340_1341CC>TT; p.T447I; 2:216138177-216138178	skin	malignant_melanoma	Substitution - Missense
c.1772G>A; p.S591N; 2:216161986-216161986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.822G>T; p.K274N; 2:216127559-216127559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829A>G; p.T277A; 2:216127566-216127566	urinary_tract; bladder	carcinoma	Substitution - Missense
c.955G>T; p.D319Y; 2:216130892-216130892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>T; p.D319Y; 2:216130892-216130892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890T>C; p.L297S; 2:216127627-216127627	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1293G>A; p.R431R; 2:216138130-216138130	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078C>T; p.Q360*; 2:216132352-216132352	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.474C>T; p.D158D; 2:216119148-216119148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.422G>A; p.R141Q; 2:216119096-216119096	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>C; p.H131P; 2:216119066-216119066	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1417C>A; p.L473I; 2:216141260-216141260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.471T>C; p.C157C; 2:216119145-216119145	central_nervous_system; brain	glioma	Substitution - coding silent
c.1592C>T; p.S531F; 2:216148198-216148198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1447C>T; p.P483S; 2:216141290-216141290	skin	malignant_melanoma	Substitution - Missense
c.705C>T; p.C235C; 2:216125938-216125938	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.45C>T; p.D15D; 2:216113039-216113039	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1491A>C; p.R497S; 2:216148097-216148097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1491A>C; p.R497S; 2:216148097-216148097	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1964T>C; p.F655S; 2:216192658-216192658	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.1286A>G; p.D429G; 2:216138123-216138123	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1505G>A; p.R502Q; 2:216148111-216148111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525C>T; p.Q509*; 2:216148131-216148131	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1886C>T; p.T629I; 2:216190276-216190276	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.627A>C; p.K209N; 2:216122197-216122197	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1902G>A; p.K634K; 2:216190292-216190292	breast	carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation