| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7520 |
Name | XRCC5 |
Synonymous | KARP-1|KARP1|KU80|KUB2|Ku86|NFIV;X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining);XRCC5;X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) |
Definition | 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 |
Position | 2q35 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for XRCC5 | ||
PCGP somatic mutation [Top] | ||
There is no record for XRCC5 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1231C>G; p.H411D; |
lung | carcinoma; undifferentiated_carcinoma |
c.1114G>A; p.A372T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.188G>A; p.G63D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.310C>T; p.Q104*; 2:216689801-216689801 |
kidney | carcinoma; renal_cell_carcinoma |
c.1927C>T; p.R643W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.890T>C; p.L297S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.705C>T; p.C235C; |
oesophagus | carcinoma; adenocarcinoma |
c.955G>T; p.D319Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1708G>T; p.E570*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1234A>G; p.I412V; |
liver | carcinoma |
c.1491A>C; p.R497S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1964T>C; p.F655S; |
skin; leg | malignant_melanoma; nodular |
c.627A>C; p.K209N; |
lung | carcinoma; adenocarcinoma |
c.45C>T; p.D15D; |
lung | carcinoma; adenocarcinoma |
c.2188G>A; p.D730N; |
lung | carcinoma; adenocarcinoma |
c.1163A>G; p.D388G; |
lung | carcinoma; adenocarcinoma |
c.1215_1216CG>TC; p.V405>?; |
lung | carcinoma; adenocarcinoma |
c.1513C>G; p.L505V; |
prostate | carcinoma |
c.1673A>G; p.H558R; |
liver | carcinoma |
c.1557C>G; p.P519P; |
lung | carcinoma; adenocarcinoma |
c.1525C>T; p.Q509*; |
lung | carcinoma; adenocarcinoma |
c.392A>C; p.H131P; |
lung | carcinoma; squamous_cell_carcinoma |
c.252G>T; p.M84I; |
lung | carcinoma; squamous_cell_carcinoma |
c.187G>T; p.G63C; |
lung | carcinoma; adenocarcinoma |
c.1071G>T; p.M357I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2132C>G; p.P711R; |
lung | carcinoma; adenocarcinoma |
c.391C>T; p.H131Y; |
lung | carcinoma; adenocarcinoma |
c.947A>G; p.Y316C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.708C>G; p.V236V; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.1262A>G; p.Y421C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.174G>A; p.L58L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1927C>T; p.R643W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632T>C; p.V211A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.131G>A; p.R44Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.474C>T; p.D158D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1890G>A; p.P630P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1504C>T; p.R502W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.829A>C; p.T277P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1772G>A; p.S591N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.706G>A; p.V236I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2179G>A; p.D727N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1812G>T; p.Q604H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1861G>A; p.E621K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1861G>A; p.E621K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1084C>T; p.L362L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2146G>T; p.A716S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1944+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1141A>C; p.I381L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.595G>A; p.E199K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2179G>A; p.D727N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.993G>T; p.M331I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1345G>A; p.A449T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1861G>A; p.E621K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.761G>A; p.G254D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1342G>A; p.E448K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1902G>A; p.K634K; |
breast | carcinoma |
c.2177A>G; p.D726G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.422G>A; p.R141Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.829A>G; p.T277A; |
urinary_tract; bladder | carcinoma |
c.556G>A; p.G186S; |
skin | malignant_melanoma |
c.1340_1341CC>TT; p.T447I; |
skin | malignant_melanoma |
c.86C>T; p.S29F; |
skin | malignant_melanoma |
c.88_89CC>TT; p.P30L; |
skin | malignant_melanoma |
c.2053C>G; p.L685V; |
skin | malignant_melanoma |