Cancer metastasis database

Annotation category 5

Gene information

Gene ID 50943
Symbol

FOXP3

Synonymous

AIID|DIETER|IPEX|JM2|PIDX|XPID

Full name

forkhead box P3

Gene description

FOXP3delta7|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin

Cytoband

Xp11.23

Gene type

protein-coding

Synonymous

MIM:300292; HGNC:HGNC:6106; Ensembl:ENSG00000049768; HPRD:02242; Vega:OTTHUMG00000024135

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1162A>G; p.N388D; 23:49251468-49251468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.495G>A; p.P165P; 23:49256972-49256972

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.341G>A; p.R114Q; 23:49257540-49257540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.341G>A; p.R114Q; 23:49257540-49257540

 breastcarcinomaSubstitution - Missense

c.934C>A; p.L312M; 23:49253950-49253950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.70C>T; p.P24S; 23:49258436-49258436

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.848T>C; p.V283A; 23:49254036-49254036

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1210G>A; p.A404T; 23:49251420-49251420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1249C>T; p.R417W; 23:49251381-49251381

 breastcarcinomaSubstitution - Missense

c.1295G>C; p.*432S; 23:49251335-49251335

 urinary_tract; bladdercarcinomaNonstop extension

c.315+2T>C; p.?; 23:49257662-49257662

 breastcarcinomaUnknown

c.530C>A; p.P177H; 23:49256937-49256937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.T108M; 23:49257558-49257558

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.323C>T; p.T108M; 23:49257558-49257558

 thyroidcarcinomaSubstitution - Missense

c.323C>T; p.T108M; 23:49257558-49257558

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336C>T; p.H112H; 23:49257545-49257545

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.191T>C; p.M64T; 23:49258315-49258315

 pancreascarcinomaSubstitution - Missense

c.1010G>A; p.R337Q; 23:49253160-49253160

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.437G>A; p.R146Q; 23:49257444-49257444

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1051C>T; p.L351L; 23:49251759-49251759

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1051C>T; p.L351L; 23:49251759-49251759

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.362A>G; p.H121R; 23:49257519-49257519

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.713T>G; p.M238R; 23:49255737-49255737

 livercarcinomaSubstitution - Missense

c.1209G>A; p.G403G; 23:49251421-49251421

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1189C>T; p.R397W; 23:49251441-49251441

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.625_630delGAAGAG; p.E209_E210delEE; 23:49256768-49256773

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - In frame

c.1063G>C; p.E355Q; 23:49251747-49251747

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.832G>T; p.G278C; 23:49254052-49254052

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.616_618delAAG; p.K206delK; 23:49256780-49256782

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.533G>A; p.R178K; 23:49256934-49256934

 skinmalignant_melanomaSubstitution - Missense

c.385A>C; p.I129L; 23:49257496-49257496

 pancreascarcinomaSubstitution - Missense

c.323C>G; p.T108R; 23:49257558-49257558

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1200C>T; p.S400S; 23:49251430-49251430

 breastcarcinomaSubstitution - coding silent

c.1121T>A; p.F374Y; 23:49251689-49251689

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.757C>A; p.L253M; 23:49255488-49255488

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.510C>T; p.T170T; 23:49256957-49256957

 thyroidcarcinomaSubstitution - coding silent

c.1040G>A; p.R347H; 23:49253130-49253130

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1147-2A>T; p.?; 23:49251485-49251485

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.1147-2A>T; p.?; 23:49251485-49251485

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.816G>A; p.V272V; 23:49255429-49255429

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.551C>T; p.S184L; 23:49256847-49256847

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.837delC; p.C280fs*4; 23:49254047-49254047

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.543-3delC; p.?; 23:49256858-49256858

 lungcarcinoma; small_cell_carcinomaUnknown

c.613G>T; p.E205*; 23:49256785-49256785

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.281C>A; p.A94E; 23:49257698-49257698

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.543C>T; p.S181S; 23:49256855-49256855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.647+2T>A; p.?; 23:49256749-49256749

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.895C>T; p.R299W; 23:49253989-49253989

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.360G>A; p.V120V; 23:49257521-49257521

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1285C>T; p.P429S; 23:49251345-49251345

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.769C>T; p.Q257*; 23:49255476-49255476

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.654C>T; p.C218C; 23:49255796-49255796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.318C>T; p.L106L; 23:49257563-49257563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.273delC; p.L92fs*37; 23:49257706-49257706

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.943A>G; p.S315G; 23:49253941-49253941

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.925C>T; p.R309W; 23:49253959-49253959

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.659C>T; p.A220V; 23:49255791-49255791

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1245G>A; p.K415K; 23:49251385-49251385

 breastcarcinomaSubstitution - coding silent

c.617A>T; p.K206M; 23:49256781-49256781

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense