Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2547
Symbol

XRCC6

Synonymous

CTC75|CTCBF|G22P1|KU70|ML8|TLAA

Full name

X-ray repair complementing defective repair in Chinese hamster cells 6

Gene description

5'-dRP lyase Ku70|5'-deoxyribose-5-phosphate lyase Ku70|70 kDa subunit of Ku antigen|ATP-dependent DNA helicase 2 subunit 1|ATP-dependent DNA helicase II 70 kDa subunit|ATP-dependent DNA helicase II, 70 kDa subunit|CTC box binding factor 75 kDa subunit|CT

Cytoband

22q13.2

Gene type

protein-coding

Synonymous

MIM:152690; HGNC:HGNC:4055; Ensembl:ENSG00000196419; HPRD:01071; Vega:OTTHUMG00000151190

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.287C>T; p.S96L; 22:41636204-41636204

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.589+1G>T; p.?; 22:41636771-41636771

lungcarcinoma; adenocarcinomaUnknown

c.466G>A; p.D156N; 22:41636647-41636647

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.667A>G; p.I223V; 22:41637685-41637685

livercarcinomaSubstitution - Missense

c.667A>G; p.I223V; 22:41637685-41637685

livercarcinomaSubstitution - Missense

c.160G>A; p.E54K; 22:41628195-41628195

breastcarcinomaSubstitution - Missense

c.667A>G; p.I223V; 22:41637685-41637685

livercarcinomaSubstitution - Missense

c.667A>G; p.I223V; 22:41637685-41637685

livercarcinomaSubstitution - Missense

c.905C>T; p.T302I; 22:41647027-41647027

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1443C>T; p.P481P; 22:41658273-41658273

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1443C>T; p.P481P; 22:41658273-41658273

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1254A>G; p.E418E; 22:41653653-41653653

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1254A>G; p.E418E; 22:41653653-41653653

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>C; p.E11Q; 22:41622035-41622035

breastcarcinomaSubstitution - Missense

c.1255G>A; p.E419K; 22:41653654-41653654

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1637-1G>T; p.?; 22:41663621-41663621

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.589G>C; p.G197R; 22:41636770-41636770

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.781C>T; p.L261L; 22:41646903-41646903

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1159A>C; p.I387L; 22:41653558-41653558

lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.60A>G; p.Q20Q; 22:41622064-41622064

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1118C>T; p.S373L; 22:41650880-41650880

skinmalignant_melanomaSubstitution - Missense

c.280A>G; p.K94E; 22:41636197-41636197

skinmalignant_melanomaSubstitution - Missense

c.590-2A>C; p.?; 22:41637606-41637606

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1493T>G; p.M498R; 22:41658323-41658323

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.91A>G; p.K31E; 22:41628126-41628126

livercarcinomaSubstitution - Missense

c.1177G>T; p.E393*; 22:41653576-41653576

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1591C>T; p.P531S; 22:41661399-41661399

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.A151V; 22:41636633-41636633

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1292-1G>T; p.?; 22:41656902-41656902

stomachcarcinoma; adenocarcinomaUnknown

c.1703T>C; p.I568T; 22:41663688-41663688

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1715C>T; p.T572M; 22:41663700-41663700

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.535G>C; p.D179H; 22:41636716-41636716

breastcarcinomaSubstitution - Missense

c.1797G>A; p.L599L; 22:41663782-41663782

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1330A>G; p.R444G; 22:41656941-41656941

thyroidcarcinomaSubstitution - Missense

c.1795C>A; p.L599M; 22:41663780-41663780

pancreascarcinomaSubstitution - Missense

c.973C>T; p.R325C; 22:41650735-41650735

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.193C>A; p.Q65K; 22:41628228-41628228

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.799A>G; p.I267V; 22:41646921-41646921

livercarcinomaSubstitution - Missense

c.343C>T; p.R115*; 22:41636524-41636524

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1359_1378del20; p.A454fs*7; 22:41656970-41656989

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1359_1378del20; p.A454fs*7; 22:41656970-41656989

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.347T>G; p.I116S; 22:41636528-41636528

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1636+1G>A; p.?; 22:41661445-41661445

skinmalignant_melanomaUnknown

c.1636+1G>A; p.?; 22:41661445-41661445

skinmalignant_melanomaUnknown

c.838G>T; p.A280S; 22:41646960-41646960

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1055C>T; p.P352L; 22:41650817-41650817

ovaryother; neoplasmSubstitution - Missense

c.641C>T; p.S214F; 22:41637659-41637659

urinary_tract; bladdercarcinomaSubstitution - Missense

c.83G>A; p.G28E; 22:41628118-41628118

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.960+10G>A; p.?; 22:41647092-41647092

pancreascarcinoma; adenocarcinomaUnknown

c.1636+1G>A; p.?; 22:41661445-41661445

skinmalignant_melanomaUnknown

c.1636+1G>A; p.?; 22:41661445-41661445

skinmalignant_melanomaUnknown

c.1635C>T; p.H545H; 22:41661443-41661443

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1279G>A; p.V427M; 22:41653678-41653678

eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.1637-6C>T; p.?; 22:41663616-41663616

oesophaguscarcinoma; adenocarcinomaUnknown

c.1660A>T; p.R554W; 22:41663645-41663645

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.A224T; 22:41637688-41637688

oesophaguscarcinomaSubstitution - Missense

c.2T>C; p.M1T; 22:41622006-41622006

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.642C>T; p.S214S; 22:41637660-41637660

skinmalignant_melanomaSubstitution - coding silent

c.717A>T; p.L239L; 22:41637735-41637735

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1084C>A; p.L362M; 22:41650846-41650846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1254A>C; p.E418D; 22:41653653-41653653

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223C>T; p.P408L; 22:41653622-41653622

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1409G>A; p.R470H; 22:41657020-41657020

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1499C>T; p.P500L; 22:41658329-41658329

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.L153F; 22:41636638-41636638

skinmalignant_melanomaSubstitution - Missense

c.1288C>G; p.P430A; 22:41653687-41653687

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1297C>T; p.Q433*; 22:41656908-41656908

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.796G>T; p.D266Y; 22:41646918-41646918

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.500T>A; p.M167K; 22:41636681-41636681

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.500T>A; p.M167K; 22:41636681-41636681

stomachadenocarcinomaSubstitution - Missense

c.993A>C; p.K331N; 22:41650755-41650755

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.993A>C; p.K331N; 22:41650755-41650755

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.492G>C; p.K164N; 22:41636673-41636673

breastcarcinomaSubstitution - Missense

c.1060G>C; p.V354L; 22:41650822-41650822

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.283A>C; p.N95H; 22:41636200-41636200

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1016G>A; p.R339Q; 22:41650778-41650778

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1312C>T; p.P438S; 22:41656923-41656923

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772A>T; p.R258W; 22:41637790-41637790

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1101C>T; p.F367F; 22:41650863-41650863

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.594C>T; p.I198I; 22:41637612-41637612

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.144G>A; p.M48I; 22:41628179-41628179

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.583G>C; p.D195H; 22:41636764-41636764

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.289G>A; p.V97M; 22:41636206-41636206

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1779G>T; p.G593G; 22:41663764-41663764

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1779G>T; p.G593G; 22:41663764-41663764

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.707C>T; p.S236F; 22:41637725-41637725

skinmalignant_melanomaSubstitution - Missense

c.1383G>A; p.K461K; 22:41656994-41656994

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1296C>T; p.F432F; 22:41656907-41656907

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1020T>A; p.F340L; 22:41650782-41650782

skinmalignant_melanomaSubstitution - Missense

c.342A>G; p.K114K; 22:41636523-41636523

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.982A>G; p.I328V; 22:41650744-41650744

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947C>T; p.T316I; 22:41647069-41647069

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1435G>C; p.E479Q; 22:41658265-41658265

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.783G>A; p.L261L; 22:41646905-41646905

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.800T>C; p.I267T; 22:41646922-41646922

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.583G>T; p.D195Y; 22:41636764-41636764

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.846G>T; p.K282N; 22:41646968-41646968

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.142A>G; p.M48V; 22:41628177-41628177

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1253A>G; p.E418G; 22:41653652-41653652

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1253A>G; p.E418G; 22:41653652-41653652

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.855A>C; p.P285P; 22:41646977-41646977

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1444G>A; p.V482M; 22:41658274-41658274

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.850C>T; p.P284S; 22:41646972-41646972

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1242G>A; p.V414V; 22:41653641-41653641

breastcarcinomaSubstitution - coding silent

c.809C>G; p.S270C; 22:41646931-41646931

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1525C>T; p.P509S; 22:41661333-41661333

prostatecarcinoma; adenocarcinomaSubstitution - Missense