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

Basic Information

Gene ID

140628

Name

GATA5

Synonymous

GATA binding protein 5;GATA5;GATA binding protein 5

Definition

GATA binding factor-5|GATA-binding factor 5|GATA-binding protein 5|transcription factor GATA-5

Position

20q13.33

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 0.07.

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.640G>A; p.G214S; 20:62473462-62473462

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.805C>T; p.L269F; 20:62466446-62466446

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.303G>A; p.G101G; 20:62475219-62475219

pancreascarcinomaSubstitution - coding silent

c.1100A>C; p.E367A; 20:62464930-62464930

ovaryother; neoplasmSubstitution - Missense

c.1100A>C; p.E367A; 20:62464930-62464930

ovaryother; neoplasmSubstitution - Missense

c.1100A>C; p.E367A; 20:62464930-62464930

ovaryother; neoplasmSubstitution - Missense

c.1100A>C; p.E367A; 20:62464930-62464930

ovaryother; neoplasmSubstitution - Missense

c.524-2A>G; p.?; 20:62473580-62473580

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.602G>A; p.R201H; 20:62473500-62473500

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.602G>A; p.R201H; 20:62473500-62473500

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.755C>T; p.T252M; 20:62466496-62466496

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1115C>G; p.P372R; 20:62464915-62464915

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.850A>C; p.K284Q; 20:62465897-62465897

NSmalignant_melanomaSubstitution - Missense

c.329G>A; p.G110D; 20:62475193-62475193

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1128A>G; p.P376P; 20:62464902-62464902

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.850A>C; p.K284Q; 20:62465897-62465897

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1128A>G; p.P376P; 20:62464902-62464902

thyroidother; neoplasmSubstitution - coding silent

c.1128A>G; p.P376P; 20:62464902-62464902

thyroidother; neoplasmSubstitution - coding silent

c.850A>C; p.K284Q; 20:62465897-62465897

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1093G>C; p.E365Q; 20:62464937-62464937

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1093G>C; p.E365Q; 20:62464937-62464937

urinary_tract; bladdercarcinomaSubstitution - Missense

c.558T>C; p.G186G; 20:62473544-62473544

breastcarcinomaSubstitution - coding silent

c.609C>T; p.D203D; 20:62473493-62473493

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1081G>A; p.E361K; 20:62464949-62464949

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.917C>T; p.S306F; 20:62465461-62465461

skinmalignant_melanomaSubstitution - Missense

c.974C>T; p.A325V; 20:62465404-62465404

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1040C>A; p.A347D; 20:62464990-62464990

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1007C>T; p.P336L; 20:62465371-62465371

skinmalignant_melanomaSubstitution - Missense

c.11G>A; p.S4N; 20:62475511-62475511

urinary_tract; bladdercarcinomaSubstitution - Missense

c.286G>A; p.A96T; 20:62475236-62475236

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.428C>T; p.P143L; 20:62475094-62475094

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.975C>T; p.A325A; 20:62465403-62465403

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.768G>A; p.R256R; 20:62466483-62466483

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1191C>A; p.A397A; 20:62464839-62464839

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1191C>A; p.A397A; 20:62464839-62464839

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

thyroidother; neoplasmSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

thyroidother; neoplasmSubstitution - coding silent

c.852G>A; p.K284K; 20:62465895-62465895

thyroidother; neoplasmSubstitution - coding silent

c.822C>T; p.H274H; 20:62466429-62466429

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.755C>A; p.T252K; 20:62466496-62466496

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199A>C; p.T67P; 20:62475323-62475323

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.V163I; 20:62475035-62475035

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1010T>C; p.V337A; 20:62465368-62465368

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.D149N; 20:62475077-62475077

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.981G>C; p.S327S; 20:62465397-62465397

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.981G>C; p.S327S; 20:62465397-62465397

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.981G>C; p.S327S; 20:62465397-62465397

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1177G>A; p.A393T; 20:62464853-62464853

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.625C>T; p.L209L; 20:62473477-62473477

skinmalignant_melanomaSubstitution - coding silent

c.529G>A; p.D177N; 20:62473573-62473573

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.829C>T; p.P277S; 20:62465918-62465918

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1186T>A; p.L396M; 20:62464844-62464844

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1121C>T; p.T374M; 20:62464909-62464909

thyroidcarcinomaSubstitution - Missense

c.1092C>T; p.F364F; 20:62464938-62464938

skinmalignant_melanomaSubstitution - coding silent

c.723C>A; p.L241L; 20:62466528-62466528

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.560G>A; p.R187H; 20:62473542-62473542

pancreascarcinomaSubstitution - Missense

c.604C>T; p.R202*; 20:62473498-62473498

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.549G>A; p.P183P; 20:62473553-62473553

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.100G>C; p.V34L; 20:62475422-62475422

livercarcinomaSubstitution - Missense

c.100G>C; p.V34L; 20:62475422-62475422

livercarcinomaSubstitution - Missense

c.195G>A; p.A65A; 20:62475327-62475327

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.629G>A; p.C210Y; 20:62473473-62473473

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.584T>G; p.L195R; 20:62473518-62473518

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.980C>T; p.S327L; 20:62465398-62465398

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.980C>T; p.S327L; 20:62465398-62465398

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1141G>A; p.G381S; 20:62464889-62464889

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.914-2A>T; p.?; 20:62465466-62465466

lungcarcinoma; adenocarcinomaUnknown

c.959C>A; p.T320N; 20:62465419-62465419

ovaryother; neoplasmSubstitution - Missense

c.72C>T; p.H24H; 20:62475450-62475450

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.710G>A; p.R237H; 20:62466541-62466541

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.829C>A; p.P277T; 20:62465918-62465918

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.548C>T; p.P183L; 20:62473554-62473554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.864G>A; p.Q288Q; 20:62465883-62465883

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.773C>T; p.S258L; 20:62466478-62466478

skinmalignant_melanomaSubstitution - Missense

c.969_970delAG; p.A324fs*29; 20:62465408-62465409

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.168delC; p.E57fs*90; 20:62475354-62475354

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1057G>T; p.D353Y; 20:62464973-62464973

urinary_tract; bladdercarcinomaSubstitution - Missense


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