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

Basic Information

Gene ID

57586

Name

SYT13

Synonymous

synaptotagmin XIII;SYT13;synaptotagmin XIII

Definition

synaptotagmin-13|sytXIII

Position

11p11.2

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

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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 0.05.

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.906C>T; p.N302N; 11:45246453-45246453

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.598G>A; p.A200T; 11:45252669-45252669

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1244G>A; p.R415H; 11:45244089-45244089

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1246C>T; p.R416W; 11:45244087-45244087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.662G>T; p.W221L; 11:45252605-45252605

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.565G>A; p.G189R; 11:45252702-45252702

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1276C>A; p.L426M; 11:45244057-45244057

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.794C>T; p.T265I; 11:45252473-45252473

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.794C>T; p.T265I; 11:45252473-45252473

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.39G>A; p.T13T; 11:45286169-45286169

 thyroidother; neoplasmSubstitution - coding silent

c.535C>T; p.R179C; 11:45254279-45254279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.850C>T; p.P284S; 11:45246509-45246509

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.840A>C; p.S280S; 11:45252427-45252427

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.479C>A; p.P160H; 11:45254335-45254335

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1129G>A; p.E377K; 11:45244204-45244204

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.418G>T; p.E140*; 11:45254396-45254396

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.945C>T; p.H315H; 11:45246414-45246414

 ovaryother; neoplasmSubstitution - coding silent

c.945C>T; p.H315H; 11:45246414-45246414

 ovaryother; neoplasmSubstitution - coding silent

c.1013G>A; p.R338Q; 11:45244320-45244320

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.435G>A; p.M145I; 11:45254379-45254379

 skinmalignant_melanomaSubstitution - Missense

c.378C>T; p.V126V; 11:45255697-45255697

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1118G>C; p.S373T; 11:45244215-45244215

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.339C>T; p.S113S; 11:45255736-45255736

 skinmalignant_melanomaSubstitution - coding silent

c.667G>A; p.E223K; 11:45252600-45252600

 skinmalignant_melanomaSubstitution - Missense

c.1104G>C; p.L368L; 11:45244229-45244229

 breastcarcinomaSubstitution - coding silent

c.204G>A; p.T68T; 11:45255871-45255871

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.682C>A; p.P228T; 11:45252585-45252585

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.891C>A; p.Y297*; 11:45246468-45246468

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.590G>A; p.G197E; 11:45252677-45252677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.162C>T; p.S54S; 11:45286046-45286046

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.548T>A; p.V183E; 11:45252719-45252719

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.114G>T; p.G38G; 11:45286094-45286094

 breastcarcinomaSubstitution - coding silent

c.241G>T; p.D81Y; 11:45255834-45255834

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1222G>A; p.E408K; 11:45244111-45244111

 skin; armmalignant_melanomaSubstitution - Missense

c.971G>A; p.G324E; 11:45246388-45246388

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.750C>T; p.S250S; 11:45252517-45252517

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.263C>T; p.A88V; 11:45255812-45255812

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.739G>C; p.D247H; 11:45252528-45252528

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.756C>G; p.H252Q; 11:45252511-45252511

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.262G>T; p.A88S; 11:45255813-45255813

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.456G>A; p.K152K; 11:45254358-45254358

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.936G>A; p.K312K; 11:45246423-45246423

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.287A>T; p.N96I; 11:45255788-45255788

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1127T>C; p.L376P; 11:45244206-45244206

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1127T>C; p.L376P; 11:45244206-45244206

 livercarcinomaSubstitution - Missense

c.389T>A; p.L130Q; 11:45255686-45255686

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.849G>A; p.E283E; 11:45246510-45246510

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.967C>T; p.L323L; 11:45246392-45246392

 livercarcinomaSubstitution - coding silent

c.967C>T; p.L323L; 11:45246392-45246392

 livercarcinomaSubstitution - coding silent

c.1200G>A; p.S400S; 11:45244133-45244133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.237C>T; p.F79F; 11:45255838-45255838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.237C>T; p.F79F; 11:45255838-45255838

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1138G>T; p.G380C; 11:45244195-45244195

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1211G>A; p.R404H; 11:45244122-45244122

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.549G>T; p.V183V; 11:45252718-45252718

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.551C>T; p.T184I; 11:45252716-45252716

 breastcarcinomaSubstitution - Missense

c.269C>T; p.T90M; 11:45255806-45255806

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.1099G>A; p.D367N; 11:45244234-45244234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1099G>A; p.D367N; 11:45244234-45244234

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.996C>T; p.T332T; 11:45244337-45244337

 skinmalignant_melanomaSubstitution - coding silent

c.908G>A; p.R303H; 11:45246451-45246451

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1146C>A; p.D382E; 11:45244187-45244187

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.961G>A; p.E321K; 11:45246398-45246398

 skinmalignant_melanomaSubstitution - Missense

c.860G>A; p.G287E; 11:45246499-45246499

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.397C>G; p.L133V; 11:45255678-45255678

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.537C>T; p.R179R; 11:45254277-45254277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.682C>T; p.P228S; 11:45252585-45252585

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.682C>T; p.P228S; 11:45252585-45252585

 skinmalignant_melanomaSubstitution - Missense

c.682C>T; p.P228S; 11:45252585-45252585

 skinmalignant_melanomaSubstitution - Missense

c.682C>T; p.P228S; 11:45252585-45252585

 skinmalignant_melanomaSubstitution - Missense

c.774C>T; p.L258L; 11:45252493-45252493

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1020G>A; p.L340L; 11:45244313-45244313

 skinmalignant_melanomaSubstitution - coding silent

c.660C>A; p.T220T; 11:45252607-45252607

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1214G>T; p.S405I; 11:45244119-45244119

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.334G>A; p.A112T; 11:45255741-45255741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.681C>T; p.L227L; 11:45252586-45252586

 skinmalignant_melanomaSubstitution - coding silent

c.90T>C; p.C30C; 11:45286118-45286118

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1046A>C; p.K349T; 11:45244287-45244287

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1214G>A; p.S405N; 11:45244119-45244119

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1112C>T; p.A371V; 11:45244221-45244221

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1221G>A; p.W407*; 11:45244112-45244112

 skinmalignant_melanomaSubstitution - Nonsense

c.1221G>A; p.W407*; 11:45244112-45244112

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.778C>G; p.L260V; 11:45252489-45252489

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.E276K; 11:45252441-45252441

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.414G>T; p.V138V; 11:45254400-45254400

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1109A>T; p.Q370L; 11:45244224-45244224

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1147G>A; p.D383N; 11:45244186-45244186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.285C>A; p.I95I; 11:45255790-45255790

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>T; p.L304L; 11:45246447-45246447

 skinmalignant_melanomaSubstitution - coding silent

c.912C>T; p.L304L; 11:45246447-45246447

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.809G>A; p.G270E; 11:45252458-45252458

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482A>G; p.K161R; 11:45254332-45254332

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1048C>A; p.H350N; 11:45244285-45244285

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1048C>A; p.H350N; 11:45244285-45244285

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.305T>G; p.L102R; 11:45255770-45255770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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