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

Basic Information

Gene ID

3170

Name

FOXA2

Synonymous

forkhead box A2;FOXA2;forkhead box A2

Definition

HNF-3-beta|HNF-3B|TCF-3B|forkhead box protein A2|hepatic nuclear factor-3-beta|hepatocyte nuclear factor 3, beta|hepatocyte nuclear factor 3-beta|transcription factor 3B

Position

20p11

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 0.18.

The copy number variations for various cancers

Top

There is no record for FOXA2

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.326G>A; p.S109N; 20:22582898-22582898

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.457C>T; p.R153C; 20:22582767-22582767

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.522G>C; p.Q174H; 20:22582702-22582702

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1045C>T; p.L349L; 20:22582179-22582179

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.837A>G; p.G279G; 20:22582387-22582387

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.837A>G; p.G279G; 20:22582387-22582387

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1148C>T; p.S383F; 20:22582076-22582076

 skinmalignant_melanomaSubstitution - Missense

c.669G>A; p.S223S; 20:22582555-22582555

 pancreascarcinomaSubstitution - coding silent

c.616T>C; p.S206P; 20:22582608-22582608

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>G; p.H395Q; 20:22582039-22582039

 central_nervous_system; braingliomaSubstitution - Missense

c.400A>C; p.S134R; 20:22582824-22582824

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.157A>G; p.S53G; 20:22583067-22583067

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1104_1105insAC; p.H369fs*41; 20:22582119-22582120

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.25G>A; p.G9R; 20:22584236-22584236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1272G>A; p.M424I; 20:22581952-22581952

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1023_1024delGC; p.Q342fs*19; 20:22582200-22582201

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.730G>A; p.E244K; 20:22582494-22582494

 skinmalignant_melanomaSubstitution - Missense

c.743A>C; p.Y248S; 20:22582481-22582481

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.132G>A; p.M44I; 20:22583092-22583092

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.585C>T; p.F195F; 20:22582639-22582639

 skinmalignant_melanomaSubstitution - coding silent

c.1292C>A; p.T431K; 20:22581932-22581932

 ovaryother; neoplasmSubstitution - Missense

c.651C>A; p.F217L; 20:22582573-22582573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219G>A; p.M73I; 20:22583005-22583005

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1135A>G; p.N379D; 20:22582089-22582089

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.234G>T; p.A78A; 20:22582990-22582990

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1247C>T; p.S416F; 20:22581977-22581977

 skinmalignant_melanomaSubstitution - Missense

c.990G>A; p.L330L; 20:22582234-22582234

 breastcarcinomaSubstitution - coding silent

c.485A>G; p.Y162C; 20:22582739-22582739

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.P112L; 20:22582889-22582889

 skinmalignant_melanomaSubstitution - Missense

c.1368C>A; p.S456S; 20:22581856-22581856

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.342G>T; p.G114G; 20:22582882-22582882

 kidneyother; neoplasmSubstitution - coding silent

c.1308G>A; p.S436S; 20:22581916-22581916

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.112A>C; p.N38H; 20:22583112-22583112

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1174C>T; p.H392Y; 20:22582050-22582050

 skinmalignant_melanomaSubstitution - Missense

c.390G>A; p.M130I; 20:22582834-22582834

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.669delG; p.D225fs*39; 20:22582555-22582555

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.625C>T; p.H209Y; 20:22582599-22582599

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.472G>T; p.A158S; 20:22582752-22582752

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.519G>T; p.Q173H; 20:22582705-22582705

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1143C>T; p.L381L; 20:22582081-22582081

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.697T>A; p.W233R; 20:22582527-22582527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.855T>A; p.A285A; 20:22582369-22582369

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.460_481del22; p.S154fs*20; 20:22582743-22582764

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.730G>T; p.E244*; 20:22582494-22582494

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.154G>A; p.G52S; 20:22583070-22583070

 skinmalignant_melanomaSubstitution - Missense

c.1205T>A; p.L402H; 20:22582019-22582019

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.267C>T; p.G89G; 20:22582957-22582957

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1143C>A; p.L381L; 20:22582081-22582081

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1234C>A; p.P412T; 20:22581990-22581990

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.619A>C; p.I207L; 20:22582605-22582605

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.619A>C; p.I207L; 20:22582605-22582605

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.488C>T; p.S163L; 20:22582736-22582736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1068G>A; p.P356P; 20:22582156-22582156

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1323T>A; p.D441E; 20:22581901-22581901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.366C>A; p.G122G; 20:22582858-22582858

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.366C>A; p.G122G; 20:22582858-22582858

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.177C>G; p.S59R; 20:22583047-22583047

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.709C>T; p.P237S; 20:22582515-22582515

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1155G>A; p.E385E; 20:22582069-22582069

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.345G>A; p.G115G; 20:22582879-22582879

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1179C>G; p.H393Q; 20:22582045-22582045

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.69+2T>C; p.?; 20:22584190-22584190

 upper_aerodigestive_tract; mouthcarcinomaUnknown

c.69+2T>C; p.?; 20:22584190-22584190

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.872C>T; p.A291V; 20:22582352-22582352

 thyroidother; neoplasmSubstitution - Missense

c.1284G>A; p.T428T; 20:22581940-22581940

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1284G>A; p.T428T; 20:22581940-22581940

 skinmalignant_melanomaSubstitution - coding silent

c.1284G>A; p.T428T; 20:22581940-22581940

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.91A>T; p.M31L; 20:22583133-22583133

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.58G>A; p.A20T; 20:22584203-22584203

 pancreascarcinomaSubstitution - Missense

c.1352G>A; p.R451Q; 20:22581872-22581872

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1352G>A; p.R451Q; 20:22581872-22581872

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.974C>T; p.T325M; 20:22582250-22582250

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.364G>A; p.G122S; 20:22582860-22582860

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.186C>T; p.S62S; 20:22583038-22583038

 skinmalignant_melanomaSubstitution - coding silent

c.72C>T; p.G24G; 20:22583152-22583152

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.650T>A; p.F217Y; 20:22582574-22582574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.350C>T; p.A117V; 20:22582874-22582874

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.517C>A; p.Q173K; 20:22582707-22582707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517C>A; p.Q173K; 20:22582707-22582707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31G>T; p.E11*; 20:22584230-22584230

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.620T>C; p.I207T; 20:22582604-22582604

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.545T>A; p.L182Q; 20:22582679-22582679

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1144A>T; p.M382L; 20:22582080-22582080

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.232G>T; p.A78S; 20:22582992-22582992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.997C>T; p.P333S; 20:22582227-22582227

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.114C>T; p.N38N; 20:22583110-22583110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.261G>T; p.M87I; 20:22582963-22582963

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.517C>T; p.Q173*; 20:22582707-22582707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.517C>T; p.Q173*; 20:22582707-22582707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.516C>T; p.I172I; 20:22582708-22582708

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.399G>A; p.M133I; 20:22582825-22582825

 skinmalignant_melanomaSubstitution - Missense

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