Cancer metastasis database

Annotation category 5

Gene information

Gene ID 7507
Symbol

XPA

Synonymous

XP1|XPAC

Full name

xeroderma pigmentosum, complementation group A

Gene description

DNA repair protein complementing XP-A cells|excision repair-controlling|mutant xeroderma pigmentosum complementation group A|xeroderma pigmentosum group A-complementing protein

Cytoband

9q22.3

Gene type

protein-coding

Synonymous

MIM:611153; HGNC:HGNC:12814; Ensembl:ENSG00000136936; HPRD:02045; Vega:OTTHUMG00000020330

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.646C>A; p.Q216K; 9:97684950-97684950

 thyroidother; neoplasmSubstitution - Missense

c.716C>T; p.T239M; 9:97675545-97675545

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.28G>A; p.E10K; 9:97697265-97697265

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.777G>A; p.K259K; 9:97675484-97675484

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.720T>C; p.I240I; 9:97675541-97675541

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.174C>T; p.G58G; 9:97693758-97693758

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.16G>T; p.G6W; 9:97697277-97697277

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50C>A; p.P17H; 9:97697243-97697243

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.194C>T; p.A65V; 9:97693738-97693738

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.179C>A; p.A60D; 9:97693753-97693753

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.16G>A; p.G6R; 9:97697277-97697277

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.411G>A; p.K137K; 9:97687240-97687240

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.178G>A; p.A60T; 9:97693754-97693754

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.679C>T; p.R227W; 9:97675582-97675582

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.491T>G; p.F164C; 9:97687160-97687160

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.317A>G; p.E106G; 9:97689606-97689606

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.661A>G; p.K221E; 9:97684935-97684935

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.190G>A; p.A64T; 9:97693742-97693742

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.316G>A; p.E106K; 9:97689607-97689607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.306T>A; p.Y102*; 9:97689617-97689617

 livercarcinomaSubstitution - Nonsense

c.306T>A; p.Y102*; 9:97689617-97689617

 livercarcinomaSubstitution - Nonsense

c.66C>T; p.A22A; 9:97697227-97697227

 central_nervous_system; braingliomaSubstitution - coding silent

c.136C>T; p.R46W; 9:97697157-97697157

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.643A>T; p.K215*; 9:97684953-97684953

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.717G>A; p.T239T; 9:97675544-97675544

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.700G>A; p.V234M; 9:97675561-97675561

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.699C>T; p.S233S; 9:97675562-97675562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.725A>T; p.H242L; 9:97675536-97675536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.560T>C; p.V187A; 9:97685036-97685036

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.441A>G; p.E147E; 9:97687210-97687210

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.745G>C; p.E249Q; 9:97675516-97675516

 prostatecarcinomaSubstitution - Missense

c.436C>A; p.Q146K; 9:97687215-97687215

 breastcarcinomaSubstitution - Missense

c.331G>T; p.E111*; 9:97689592-97689592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.250G>T; p.E84*; 9:97693682-97693682

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.218G>A; p.G73E; 9:97693714-97693714

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.193G>A; p.A65T; 9:97693739-97693739

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.634G>A; p.E212K; 9:97684962-97684962

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.A52A; 9:97697137-97697137

 livercarcinomaSubstitution - coding silent

c.156G>A; p.A52A; 9:97697137-97697137

 livercarcinomaSubstitution - coding silent

c.673+1G>A; p.?; 9:97684922-97684922

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.476A>C; p.E159A; 9:97687175-97687175

 breastcarcinomaSubstitution - Missense

c.620G>A; p.R207Q; 9:97684976-97684976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.596C>T; p.A199V; 9:97685000-97685000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.484C>G; p.L162V; 9:97687167-97687167

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense