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

Basic Information

Gene ID

2779

Name

GNAT1

Synonymous

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1;GNAT1;guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

Definition

guanine nucleotide-binding protein G(T), alpha-1 subunit|guanine nucleotide-binding protein G(t) subunit alpha-1|rod-type transducin alpha subunit|transducin alpha-1 chain|transducin, rod-specific

Position

3p21

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 0.08.

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.320C>A; p.A107E; 3:50193534-50193534

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.511C>T; p.L171L; 3:50193814-50193814

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.359C>T; p.S120L; 3:50193573-50193573

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.852G>A; p.P284P; 3:50194644-50194644

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.940G>C; p.E314Q; 3:50194842-50194842

 livercarcinomaSubstitution - Missense

c.852G>A; p.P284P; 3:50194644-50194644

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.852G>A; p.P284P; 3:50194644-50194644

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.940G>C; p.E314Q; 3:50194842-50194842

 livercarcinomaSubstitution - Missense

c.852G>A; p.P284P; 3:50194644-50194644

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.549G>A; p.T183T; 3:50193852-50193852

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.302G>A; p.R101Q; 3:50193516-50193516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.255C>T; p.T85T; 3:50193370-50193370

 thyroidcarcinomaSubstitution - coding silent

c.263_264insCATCC; p.Q90fs*16; 3:50193378-50193379

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.731A>G; p.H244R; 3:50194523-50194523

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.560T>G; p.F187C; 3:50193863-50193863

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.360G>A; p.S120S; 3:50193574-50193574

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.508G>A; p.V170M; 3:50193811-50193811

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472C>A; p.L158M; 3:50193775-50193775

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.888C>T; p.G296G; 3:50194790-50194790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.626A>G; p.H209R; 3:50194139-50194139

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.649A>G; p.I217V; 3:50194162-50194162

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.286C>T; p.R96C; 3:50193401-50193401

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1000G>A; p.A334T; 3:50194902-50194902

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1000G>A; p.A334T; 3:50194902-50194902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.414C>T; p.R138R; 3:50193628-50193628

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6G>T; p.G2G; 3:50191731-50191731

 oesophaguscarcinomaSubstitution - coding silent

c.20C>T; p.A7V; 3:50191745-50191745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.474G>A; p.L158L; 3:50193777-50193777

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.940G>A; p.E314K; 3:50194842-50194842

 skinmalignant_melanomaSubstitution - Missense

c.639C>T; p.G213G; 3:50194152-50194152

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.82C>T; p.R28*; 3:50191807-50191807

 skinmalignant_melanomaSubstitution - Nonsense

c.247G>A; p.A83T; 3:50193362-50193362

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.247G>A; p.A83T; 3:50193362-50193362

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1005C>A; p.V335V; 3:50194907-50194907

 pancreasNSSubstitution - coding silent

c.1012A>G; p.I338V; 3:50194914-50194914

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.441G>A; p.S147S; 3:50193655-50193655

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.578+4C>T; p.?; 3:50193885-50193885

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.301C>T; p.R101W; 3:50193515-50193515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.633C>T; p.F211F; 3:50194146-50194146

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.586G>A; p.D196N; 3:50194099-50194099

 skinmalignant_melanomaSubstitution - Missense

c.341C>T; p.T114M; 3:50193555-50193555

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.224A>G; p.Q75R; 3:50193339-50193339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224A>G; p.Q75R; 3:50193339-50193339

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.745A>G; p.I249V; 3:50194537-50194537

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.106+2T>A; p.?; 3:50191833-50191833

 prostatecarcinomaUnknown

c.450-2A>C; p.?; 3:50193751-50193751

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.450-2A>C; p.?; 3:50193751-50193751

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.548C>T; p.T183M; 3:50193851-50193851

 pancreascarcinomaSubstitution - Missense

c.281C>A; p.S94Y; 3:50193396-50193396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.358T>C; p.S120P; 3:50193572-50193572

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.A139T; 3:50193629-50193629

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.A139T; 3:50193629-50193629

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.139A>C; p.K47Q; 3:50193165-50193165

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.28delA; p.K10fs*10; 3:50191753-50191753

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1011C>A; p.D337E; 3:50194913-50194913

 livercarcinomaSubstitution - Missense

c.1011C>A; p.D337E; 3:50194913-50194913

 livercarcinomaSubstitution - Missense

c.129C>T; p.S43S; 3:50193155-50193155

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.515G>A; p.R172H; 3:50193818-50193818

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.515G>A; p.R172H; 3:50193818-50193818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.A225T; 3:50194186-50194186

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.A225T; 3:50194186-50194186

 breastcarcinomaSubstitution - Missense

c.568C>T; p.L190F; 3:50193871-50193871

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.810C>T; p.F270F; 3:50194602-50194602

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.810C>T; p.F270F; 3:50194602-50194602

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.942G>C; p.E314D; 3:50194844-50194844

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.141G>A; p.K47K; 3:50193167-50193167

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.459C>T; p.S153S; 3:50193762-50193762

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.615G>C; p.K205N; 3:50194128-50194128

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.878A>G; p.E293G; 3:50194780-50194780

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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