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

Basic Information

Gene ID

7020

Name

TFAP2A

Synonymous

transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha);TFAP2A;transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

Definition

AP-2 transcription factor|AP2-alpha|activating enhancer-binding protein 2-alpha|activator protein 2|transcription factor AP-2-alpha

Position

6p24

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.03.

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.352C>T; p.R118C; 6:10410011-10410011

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.197C>G; p.P66R; 6:10410166-10410166

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.948C>T; p.N316N; 6:10400507-10400507

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1260C>A; p.A420A; 6:10398453-10398453

 skinmalignant_melanomaSubstitution - coding silent

c.458T>C; p.V153A; 6:10409905-10409905

 breastcarcinomaSubstitution - Missense

c.1192G>A; p.E398K; 6:10398521-10398521

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1169C>T; p.T390M; 6:10398544-10398544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.104G>T; p.S35I; 6:10410259-10410259

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.101C>T; p.T34M; 6:10410262-10410262

 pancreascarcinomaSubstitution - Missense

c.262C>G; p.P88A; 6:10410101-10410101

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.477G>C; p.P159P; 6:10406830-10406830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.151T>C; p.Y51H; 6:10410212-10410212

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.169C>T; p.Q57*; 6:10410194-10410194

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.151T>C; p.Y51H; 6:10410212-10410212

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.151T>C; p.Y51H; 6:10410212-10410212

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.151T>C; p.Y51H; 6:10410212-10410212

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.607G>A; p.E203K; 6:10404647-10404647

 breastcarcinomaSubstitution - Missense

c.628G>T; p.G210C; 6:10404626-10404626

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1239C>T; p.N413N; 6:10398474-10398474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.312G>C; p.T104T; 6:10410051-10410051

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.700C>G; p.P234A; 6:10404554-10404554

 livercarcinomaSubstitution - Missense

c.228G>A; p.L76L; 6:10410135-10410135

 breastcarcinomaSubstitution - coding silent

c.700C>G; p.P234A; 6:10404554-10404554

 livercarcinomaSubstitution - Missense

c.913G>A; p.E305K; 6:10400542-10400542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.E305K; 6:10400542-10400542

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.913G>A; p.E305K; 6:10400542-10400542

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.913G>A; p.E305K; 6:10400542-10400542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.865G>T; p.G289*; 6:10402492-10402492

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.182C>T; p.P61L; 6:10410181-10410181

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.612C>A; p.V204V; 6:10404642-10404642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.602C>G; p.P201R; 6:10404652-10404652

 thyroidother; neoplasmSubstitution - Missense

c.1141G>A; p.G381S; 6:10398572-10398572

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.94C>T; p.P32S; 6:10410269-10410269

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.339G>A; p.S113S; 6:10410024-10410024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.212A>G; p.N71S; 6:10410151-10410151

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.801A>G; p.G267G; 6:10402556-10402556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.901G>A; p.V301M; 6:10400554-10400554

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1015T>C; p.C339R; 6:10398698-10398698

 breastcarcinomaSubstitution - Missense

c.197C>T; p.P66L; 6:10410166-10410166

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1072C>A; p.P358T; 6:10398641-10398641

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.701C>G; p.P234R; 6:10404553-10404553

 livercarcinomaSubstitution - Missense

c.701C>G; p.P234R; 6:10404553-10404553

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.150_152delATA; p.Y51delY; 6:10410211-10410213

 skinmalignant_melanomaDeletion - In frame

c.950G>C; p.R317P; 6:10400505-10400505

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.645C>A; p.L215L; 6:10404609-10404609

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.303C>T; p.L101L; 6:10410060-10410060

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.165C>T; p.P55P; 6:10410198-10410198

 skinmalignant_melanomaSubstitution - coding silent

c.554C>G; p.S185C; 6:10404700-10404700

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.698C>T; p.S233L; 6:10404556-10404556

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.476C>T; p.P159L; 6:10406831-10406831

 livercarcinomaSubstitution - Missense

c.244C>T; p.Q82*; 6:10410119-10410119

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.750G>A; p.A250A; 6:10402607-10402607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.750G>A; p.A250A; 6:10402607-10402607

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.750G>A; p.A250A; 6:10402607-10402607

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1059G>A; p.L353L; 6:10398654-10398654

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1257C>G; p.N419K; 6:10398456-10398456

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.917T>A; p.F306Y; 6:10400538-10400538

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1289G>A; p.R430K; 6:10398424-10398424

 breastcarcinomaSubstitution - Missense

c.61C>T; p.R21W; 6:10410302-10410302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.645C>T; p.L215L; 6:10404609-10404609

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.554C>T; p.S185F; 6:10404700-10404700

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.188C>T; p.S63L; 6:10410175-10410175

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1175T>C; p.L392P; 6:10398538-10398538

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.983G>T; p.R328I; 6:10400472-10400472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.983G>T; p.R328I; 6:10400472-10400472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.258G>A; p.Q86Q; 6:10410105-10410105

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.30C>T; p.D10D; 6:10410333-10410333

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.749C>T; p.A250V; 6:10402608-10402608

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.A250V; 6:10402608-10402608

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.A250V; 6:10402608-10402608

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1025T>G; p.F342C; 6:10398688-10398688

 breastcarcinomaSubstitution - Missense

c.156C>T; p.F52F; 6:10410207-10410207

 skinmalignant_melanomaSubstitution - coding silent

c.40G>A; p.G14S; 6:10410323-10410323

 livercarcinomaSubstitution - Missense

c.267C>G; p.G89G; 6:10410096-10410096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.399G>A; p.A133A; 6:10409964-10409964

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.948C>G; p.N316K; 6:10400507-10400507

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.738G>A; p.V246V; 6:10404516-10404516

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.350C>T; p.P117L; 6:10410013-10410013

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887G>T; p.R296M; 6:10400568-10400568

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.961G>A; p.D321N; 6:10400494-10400494

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.240C>T; p.H80H; 6:10410123-10410123

 pancreascarcinomaSubstitution - coding silent

c.124A>C; p.T42P; 6:10410239-10410239

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208G>A; p.V70I; 6:10410155-10410155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82G>T; p.V28L; 6:10410281-10410281

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.E303K; 6:10400548-10400548

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1140C>T; p.F380F; 6:10398573-10398573

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.592G>A; p.V198M; 6:10404662-10404662

 thyroidother; neoplasmSubstitution - Missense

c.1030G>T; p.D344Y; 6:10398683-10398683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>A; p.H129Q; 6:10409976-10409976

 thyroidother; neoplasmSubstitution - Missense

c.1189A>G; p.T397A; 6:10398524-10398524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130A>C; p.N44H; 6:10410233-10410233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.688C>T; p.R230W; 6:10404566-10404566

 pancreascarcinomaSubstitution - Missense

c.203C>T; p.S68F; 6:10410160-10410160

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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