| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 7520 |
Name | XRCC5 |
Synonymous | 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 |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.05. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
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 |