Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

50943

Name

FOXP3

Synonymous

forkhead box P3;FOXP3;forkhead box P3

Definition

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

Position

Xp11.23

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

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

There is no record for FOXP3

COSMIC somatic mutation [Top]

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

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