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

Basic Information

Gene ID

3169

Name

FOXA1

Synonymous

forkhead box A1;FOXA1;forkhead box A1

Definition

HNF-3-alpha|HNF-3A|TCF-3A|forkhead box protein A1|hepatocyte nuclear factor 3-alpha|transcription factor 3A

Position

14q21.1

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 0.10.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.758T>G; p.M253R; 14:37592026-37592026

 prostatecarcinomaSubstitution - Missense

c.1075C>T; p.P359S; 14:37591709-37591709

 skinmalignant_melanomaSubstitution - Missense

c.528C>G; p.I176M; 14:37592256-37592256

 breastcarcinomaSubstitution - Missense

c.758T>G; p.M253R; 14:37592026-37592026

 prostatecarcinomaSubstitution - Missense

c.528C>G; p.I176M; 14:37592256-37592256

 breastcarcinomaSubstitution - Missense

c.528C>G; p.I176M; 14:37592256-37592256

 breastcarcinomaSubstitution - Missense

c.528C>G; p.I176M; 14:37592256-37592256

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.82T>C; p.S28P; 14:37592702-37592702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.890C>A; p.P297H; 14:37591894-37591894

 pancreascarcinomaSubstitution - Missense

c.252C>T; p.G84G; 14:37592532-37592532

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.116G>T; p.G39V; 14:37592668-37592668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.776A>C; p.Y259S; 14:37592008-37592008

 breastcarcinomaSubstitution - Missense

c.741C>G; p.H247Q; 14:37592043-37592043

 breastcarcinomaSubstitution - Missense

c.472G>A; p.D158N; 14:37592312-37592312

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247G>A; p.A83T; 14:37592537-37592537

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.A83T; 14:37592537-37592537

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1268C>T; p.A423V; 14:37591516-37591516

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.655C>A; p.R219S; 14:37592129-37592129

 prostatecarcinoma; small_cell_carcinomaSubstitution - Missense

c.209A>C; p.N70T; 14:37592575-37592575

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.579delG; p.S194fs*127; 14:37592205-37592205

 breastcarcinomaDeletion - Frameshift

c.652A>C; p.I218L; 14:37592132-37592132

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.378C>A; p.G126G; 14:37592406-37592406

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.357G>A; p.Q119Q; 14:37592427-37592427

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.301G>A; p.V101M; 14:37592483-37592483

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1417T>G; p.*473E; 14:37591367-37591367

 prostatecarcinoma; adenocarcinomaNonstop extension

c.301G>A; p.V101M; 14:37592483-37592483

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.676G>A; p.D226N; 14:37592108-37592108

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.676G>A; p.D226N; 14:37592108-37592108

 prostatecarcinomaSubstitution - Missense

c.676G>A; p.D226N; 14:37592108-37592108

 breastcarcinomaSubstitution - Missense

c.676G>A; p.D226N; 14:37592108-37592108

 prostatecarcinomaSubstitution - Missense

c.462C>T; p.G154G; 14:37592322-37592322

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.462C>T; p.G154G; 14:37592322-37592322

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.242C>A; p.A81E; 14:37592542-37592542

 skinmalignant_melanomaSubstitution - Missense

c.462C>T; p.G154G; 14:37592322-37592322

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1164G>A; p.L388L; 14:37591620-37591620

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.340G>T; p.G114C; 14:37592444-37592444

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.V229I; 14:37592099-37592099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1202C>A; p.S401Y; 14:37591582-37591582

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.638G>A; p.R213H; 14:37592146-37592146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1085C>T; p.S362F; 14:37591699-37591699

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1085C>T; p.S362F; 14:37591699-37591699

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.798C>G; p.F266L; 14:37591986-37591986

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.85G>A; p.V29I; 14:37592699-37592699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.798C>G; p.F266L; 14:37591986-37591986

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.798C>G; p.F266L; 14:37591986-37591986

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.798C>G; p.F266L; 14:37591986-37591986

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.764A>T; p.E255V; 14:37592020-37592020

 breastcarcinomaSubstitution - Missense

c.263_264insG; p.S89fs*138; 14:37592520-37592521

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.760T>G; p.F254V; 14:37592024-37592024

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>C; p.K389Q; 14:37591619-37591619

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.309C>T; p.A103A; 14:37592475-37592475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1287C>T; p.Y429Y; 14:37591497-37591497

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1085C>A; p.S362Y; 14:37591699-37591699

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767A>T; p.N256I; 14:37592017-37592017

 breastcarcinomaSubstitution - Missense

c.474C>T; p.D158D; 14:37592310-37592310

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1045T>C; p.L349L; 14:37591739-37591739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.366C>T; p.A122A; 14:37592418-37592418

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1092C>T; p.P364P; 14:37591692-37591692

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.99_105delCATGAAC; p.M34fs*6; 14:37592679-37592685

 breastcarcinomaDeletion - Frameshift

c.795C>A; p.R265R; 14:37591989-37591989

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.811C>A; p.Q271K; 14:37591973-37591973

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.H247Y; 14:37592045-37592045

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.H247Y; 14:37592045-37592045

 breastcarcinomaSubstitution - Missense

c.757_761delATGTT; p.M253fs*38; 14:37592023-37592027

 breastcarcinomaDeletion - Frameshift

c.677A>G; p.D226G; 14:37592107-37592107

 breastcarcinomaSubstitution - Missense

c.526A>G; p.I176V; 14:37592258-37592258

 breastcarcinomaSubstitution - Missense

c.1358_1359insGG; p.A454fs*17; 14:37591425-37591426

 prostatecarcinomaInsertion - Frameshift

c.1175C>T; p.P392L; 14:37591609-37591609

 skinmalignant_melanomaSubstitution - Missense

c.797T>C; p.F266S; 14:37591987-37591987

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.710A>T; p.K237M; 14:37592074-37592074

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557C>T; p.A186V; 14:37592227-37592227

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.763G>A; p.E255K; 14:37592021-37592021

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1319G>T; p.G440V; 14:37591465-37591465

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1169G>A; p.G390E; 14:37591615-37591615

 boneosteosarcomaSubstitution - Missense

c.653T>C; p.I218T; 14:37592131-37592131

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.458C>T; p.A153V; 14:37592326-37592326

 breastcarcinomaSubstitution - Missense

c.249C>G; p.A83A; 14:37592535-37592535

 oesophaguscarcinomaSubstitution - coding silent

c.468C>T; p.G156G; 14:37592316-37592316

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.284G>C; p.S95T; 14:37592500-37592500

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.H168H; 14:37592280-37592280

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.431C>T; p.A144V; 14:37592353-37592353

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.649T>C; p.S217P; 14:37592135-37592135

 breastcarcinomaSubstitution - Missense

c.1227_1234delGGAGCAGC; p.E410fs*2; 14:37591550-37591557

 breastcarcinomaDeletion - Frameshift

c.725C>G; p.S242C; 14:37592059-37592059

 ovaryother; neoplasmSubstitution - Missense

c.749C>T; p.S250F; 14:37592035-37592035

 breastcarcinomaSubstitution - Missense

c.749C>T; p.S250F; 14:37592035-37592035

 breastcarcinomaSubstitution - Missense

c.749C>T; p.S250F; 14:37592035-37592035

 breastcarcinomaSubstitution - Missense

c.551A>G; p.Q184R; 14:37592233-37592233

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.758T>C; p.M253T; 14:37592026-37592026

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.951C>T; p.T317T; 14:37591833-37591833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1201T>A; p.S401T; 14:37591583-37591583

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.797T>G; p.F266C; 14:37591987-37591987

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.746A>T; p.D249V; 14:37592038-37592038

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.75C>T; p.A25A; 14:37592709-37592709

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - coding silent

c.1354C>G; p.P452A; 14:37591430-37591430

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1302C>T; p.P434P; 14:37591482-37591482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1111C>T; p.P371S; 14:37591673-37591673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.149T>G; p.M50R; 14:37592635-37592635

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.552G>A; p.Q184Q; 14:37592232-37592232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1416C>G; p.S472S; 14:37591368-37591368

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.447C>T; p.G149G; 14:37592337-37592337

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.645G>A; p.Q215Q; 14:37592139-37592139

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.676G>T; p.D226Y; 14:37592108-37592108

 prostatecarcinomaSubstitution - Missense

c.1168G>T; p.G390W; 14:37591616-37591616

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1079delT; p.I360fs*29; 14:37591705-37591705

 prostatecarcinomaDeletion - Frameshift

c.1328C>T; p.S443L; 14:37591456-37591456

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.590A>G; p.Y197C; 14:37592194-37592194

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.796T>A; p.F266I; 14:37591988-37591988

 breastcarcinomaSubstitution - Missense

c.758T>A; p.M253K; 14:37592026-37592026

 prostatecarcinomaSubstitution - Missense

c.758T>A; p.M253K; 14:37592026-37592026

 prostatecarcinomaSubstitution - Missense

c.1020delG; p.T341fs*9; 14:37591764-37591764

 prostatecarcinomaDeletion - Frameshift

c.1241_1242insA; p.L415fs*>59; 14:37591542-37591543

 breastcarcinomaInsertion - Frameshift

c.1320C>T; p.G440G; 14:37591464-37591464

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.695C>T; p.A232V; 14:37592089-37592089

 prostatecarcinomaSubstitution - Missense

c.650_651CC>TT; p.S217F; 14:37592133-37592134

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.300C>T; p.G100G; 14:37592484-37592484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.679T>C; p.C227R; 14:37592105-37592105

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1362C>T; p.A454A; 14:37591422-37591422

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.70G>A; p.E24K; 14:37594903-37594903

 skinmalignant_melanomaSubstitution - Missense

c.404A>G; p.N135S; 14:37592380-37592380

 skinmalignant_melanomaSubstitution - Missense

c.642G>T; p.W214C; 14:37592142-37592142

 breastcarcinomaSubstitution - Missense

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