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

Basic Information

Gene ID

6776

Name

STAT5A

Synonymous

signal transducer and activator of transcription 5A;STAT5A;signal transducer and activator of transcription 5A

Definition

-

Position

17q11.2

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 0.15.

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.1071C>T; p.G357G; 17:42301356-42301356

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.559G>T; p.A187S; 17:42299759-42299759

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2377_2378delCT; p.S794fs?; 17:42310661-42310662

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1664G>A; p.W555*; 17:42306431-42306431

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2018G>A; p.R673H; 17:42308289-42308289

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2018G>A; p.R673H; 17:42308289-42308289

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.E284K; 17:42300731-42300731

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2040C>T; p.S680S; 17:42308311-42308311

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1413C>T; p.H471H; 17:42305642-42305642

pancreascarcinomaSubstitution - coding silent

c.1413C>T; p.H471H; 17:42305642-42305642

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1170C>T; p.N390N; 17:42304342-42304342

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.819C>T; p.D273D; 17:42300267-42300267

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.271G>A; p.A91T; 17:42290008-42290008

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.271G>A; p.A91T; 17:42290008-42290008

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1096delC; p.Q368fs*2; 17:42301381-42301381

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1038C>A; p.T346T; 17:42301323-42301323

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1015C>T; p.P339S; 17:42301300-42301300

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1096delC; p.Q368fs*2; 17:42301381-42301381

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1038C>A; p.T346T; 17:42301323-42301323

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.805G>C; p.E269Q; 17:42300253-42300253

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805G>C; p.E269Q; 17:42300253-42300253

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805G>C; p.E269Q; 17:42300253-42300253

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805G>C; p.E269Q; 17:42300253-42300253

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805G>C; p.E269Q; 17:42300253-42300253

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.799C>G; p.P267A; 17:42300247-42300247

thyroidother; neoplasmSubstitution - Missense

c.320G>A; p.R107H; 17:42292006-42292006

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.878T>C; p.I293T; 17:42300759-42300759

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1054G>A; p.V352I; 17:42301339-42301339

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099C>T; p.P367S; 17:42301384-42301384

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.834G>A; p.W278*; 17:42300715-42300715

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1694G>A; p.G565D; 17:42307415-42307415

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1492G>A; p.V498M; 17:42306259-42306259

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1363C>T; p.L455F; 17:42304635-42304635

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2305C>T; p.R769C; 17:42310589-42310589

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1907C>T; p.P636L; 17:42308178-42308178

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1091T>G; p.M364R; 17:42301376-42301376

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.118A>T; p.S40C; 17:42289529-42289529

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1151A>G; p.K384R; 17:42301436-42301436

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1906C>T; p.P636S; 17:42307723-42307723

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98A>T; p.Y33F; 17:42289509-42289509

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1888G>A; p.A630T; 17:42307705-42307705

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1888G>A; p.A630T; 17:42307705-42307705

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1096C>T; p.P366S; 17:42301381-42301381

skinmalignant_melanomaSubstitution - Missense

c.152C>T; p.P51L; 17:42289889-42289889

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1946G>A; p.R649Q; 17:42308217-42308217

breastcarcinomaSubstitution - Missense

c.1568G>A; p.R523Q; 17:42306335-42306335

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1393C>T; p.P465S; 17:42305622-42305622

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1882A>G; p.T628A; 17:42307699-42307699

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.346G>T; p.E116*; 17:42292032-42292032

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1314G>T; p.E438D; 17:42304586-42304586

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.795_796insG; p.P267fs*14; 17:42300243-42300244

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1887C>T; p.I629I; 17:42307704-42307704

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.2334C>T; p.R778R; 17:42310618-42310618

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1770T>A; p.N590K; 17:42307491-42307491

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1019A>G; p.Q340R; 17:42301304-42301304

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1902C>A; p.D634E; 17:42307719-42307719

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1657G>A; p.V553M; 17:42306424-42306424

breastcarcinomaSubstitution - Missense

c.1565A>G; p.N522S; 17:42306332-42306332

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1905C>T; p.S635S; 17:42307722-42307722

skinmalignant_melanomaSubstitution - coding silent

c.1905C>T; p.S635S; 17:42307722-42307722

skinmalignant_melanomaSubstitution - coding silent

c.1007A>G; p.K336R; 17:42301292-42301292

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1974C>G; p.D658E; 17:42308245-42308245

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.996C>T; p.F332F; 17:42301281-42301281

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1203C>T; p.C401C; 17:42304375-42304375

breastcarcinomaSubstitution - coding silent

c.1064T>C; p.L355P; 17:42301349-42301349

skinmalignant_melanomaSubstitution - Missense

c.1064T>C; p.L355P; 17:42301349-42301349

skinmalignant_melanomaSubstitution - Missense

c.2271C>T; p.T757T; 17:42310555-42310555

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1064T>C; p.L355P; 17:42301349-42301349

skinmalignant_melanomaSubstitution - Missense

c.1303G>A; p.V435M; 17:42304575-42304575

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2330C>A; p.S777Y; 17:42310614-42310614

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.82A>G; p.I28V; 17:42289493-42289493

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82A>G; p.I28V; 17:42289493-42289493

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1058G>A; p.R353H; 17:42301343-42301343

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.40G>T; p.A14S; 17:42289451-42289451

large_intestineadenomaSubstitution - Missense

c.1490C>T; p.A497V; 17:42306257-42306257

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1072G>A; p.G358R; 17:42301357-42301357

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1551C>T; p.A517A; 17:42306318-42306318

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1513C>T; p.P505S; 17:42306280-42306280

breastcarcinomaSubstitution - Missense

c.1126G>T; p.E376*; 17:42301411-42301411

breastcarcinomaSubstitution - Nonsense

c.2034C>T; p.V678V; 17:42308305-42308305

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.405C>G; p.D135E; 17:42295648-42295648

skinmalignant_melanomaSubstitution - Missense

c.990-1G>A; p.?; 17:42301274-42301274

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1567C>T; p.R523W; 17:42306334-42306334

skinmalignant_melanomaSubstitution - Missense

c.1098C>T; p.P366P; 17:42301383-42301383

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1563C>T; p.S521S; 17:42306330-42306330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1681G>T; p.E561*; 17:42307402-42307402

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1285C>T; p.R429W; 17:42304557-42304557

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.489G>T; p.K163N; 17:42295732-42295732

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2384G>C; p.*795S; 17:42310668-42310668

lungcarcinoma; adenocarcinomaNonstop extension

c.562C>T; p.Q188*; 17:42299762-42299762

breastcarcinomaSubstitution - Nonsense

c.1536C>T; p.N512N; 17:42306303-42306303

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1651C>T; p.L551L; 17:42306418-42306418

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.534G>C; p.E178D; 17:42295777-42295777

breastcarcinomaSubstitution - Missense

c.2048A>C; p.Y683S; 17:42308319-42308319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2295G>T; p.E765D; 17:42310579-42310579

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.T155M; 17:42295707-42295707

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1447C>T; p.L483L; 17:42305676-42305676

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent


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