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

Basic Information

Gene ID

2626

Name

GATA4

Synonymous

GATA binding protein 4;GATA4;GATA binding protein 4

Definition

GATA-binding factor 4|transcription factor GATA-4

Position

8p23.1-p22

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

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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 0.11.

The copy number variations for various cancers

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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.770C>T; p.P257L; 8:11749072-11749072

 skinmalignant_melanomaSubstitution - Missense

c.868C>T; p.P290S; 8:11750195-11750195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.698C>T; p.T233M; 8:11749000-11749000

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.698C>T; p.T233M; 8:11749000-11749000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.698C>T; p.T233M; 8:11749000-11749000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1097C>T; p.T366M; 8:11757034-11757034

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>G; p.T355S; 8:11757001-11757001

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>G; p.T355S; 8:11757001-11757001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.628G>A; p.D210N; 8:11748930-11748930

 skinmalignant_melanomaSubstitution - Missense

c.875G>T; p.C292F; 8:11750202-11750202

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1326G>A; p.A442A; 8:11758472-11758472

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1238C>T; p.P413L; 8:11758384-11758384

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1163C>T; p.A388V; 8:11758309-11758309

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1163C>T; p.A388V; 8:11758309-11758309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.84C>T; p.H28H; 8:11708396-11708396

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.840G>C; p.T280T; 8:11750167-11750167

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.79A>G; p.M27V; 8:11708391-11708391

 pancreascarcinomaSubstitution - Missense

c.79A>G; p.M27V; 8:11708391-11708391

 pancreascarcinomaSubstitution - Missense

c.691G>T; p.D231Y; 8:11748993-11748993

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.17C>T; p.A6V; 8:11708329-11708329

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.796C>T; p.R266*; 8:11750123-11750123

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.796C>T; p.R266*; 8:11750123-11750123

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1232C>T; p.A411V; 8:11758378-11758378

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1232C>T; p.A411V; 8:11758378-11758378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1129A>G; p.S377G; 8:11757066-11757066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.810C>G; p.S270S; 8:11750137-11750137

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1021C>T; p.P341S; 8:11756958-11756958

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>T; p.S372F; 8:11757052-11757052

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.960G>A; p.R320R; 8:11755096-11755096

 skinmalignant_melanomaSubstitution - coding silent

c.661G>T; p.G221W; 8:11748963-11748963

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.724G>A; p.G242S; 8:11749026-11749026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858G>A; p.A286A; 8:11750185-11750185

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.888C>G; p.G296G; 8:11750215-11750215

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.688C>T; p.R230*; 8:11748990-11748990

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.794G>A; p.R265H; 8:11750121-11750121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.821G>T; p.C274F; 8:11750148-11750148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1000C>T; p.P334S; 8:11756937-11756937

 skinmalignant_melanomaSubstitution - Missense

c.914C>G; p.P305R; 8:11755050-11755050

 lungcarcinoid-endocrine_tumour; typicalSubstitution - Missense

c.627C>T; p.D209D; 8:11748929-11748929

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1084C>T; p.R362C; 8:11757021-11757021

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.933G>A; p.R311R; 8:11755069-11755069

 skinmalignant_melanomaSubstitution - coding silent

c.584G>A; p.R195Q; 8:11708896-11708896

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>C; p.M389L; 8:11758311-11758311

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1233G>A; p.A411A; 8:11758379-11758379

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.828C>A; p.T276T; 8:11750155-11750155

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1177G>A; p.G393R; 8:11758323-11758323

 skinmalignant_melanomaSubstitution - Missense

c.1273G>A; p.D425N; 8:11758419-11758419

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.919C>T; p.P307S; 8:11755055-11755055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.646G>C; p.E216Q; 8:11748948-11748948

 breastcarcinomaSubstitution - Missense

c.1293C>A; p.V431V; 8:11758439-11758439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.787G>A; p.A263T; 8:11750114-11750114

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1172G>A; p.G391D; 8:11758318-11758318

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.758C>T; p.P253L; 8:11749060-11749060

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.188C>T; p.S63F; 8:11708500-11708500

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1312G>A; p.D438N; 8:11758458-11758458

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.810C>T; p.S270S; 8:11750137-11750137

 skinmalignant_melanomaSubstitution - coding silent

c.1097C>A; p.T366K; 8:11757034-11757034

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1142C>T; p.S381F; 8:11757079-11757079

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.930G>A; p.M310I; 8:11755066-11755066

 breastcarcinomaSubstitution - Missense

c.786C>T; p.S262S; 8:11750113-11750113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.776G>A; p.R259H; 8:11749078-11749078

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1032C>T; p.S344S; 8:11756969-11756969

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1326G>T; p.A442A; 8:11758472-11758472

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1032C>T; p.S344S; 8:11756969-11756969

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1239C>A; p.P413P; 8:11758385-11758385

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1257G>A; p.Q419Q; 8:11758403-11758403

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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