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

Basic Information

Gene ID

10409

Name

BASP1

Synonymous

brain abundant, membrane attached signal protein 1;BASP1;brain abundant, membrane attached signal protein 1

Definition

22 kDa neuronal tissue-enriched acidic protein|brain acid soluble protein 1|brain acid-soluble protein 1|neuronal axonal membrane protein NAP-22|neuronal tissue-enriched acidic protein

Position

5p15.1

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 0.05.

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.90G>A; p.A30A; 5:17275306-17275306

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.145G>A; p.A49T; 5:17275361-17275361

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.503C>A; p.P168Q; 5:17275719-17275719

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.92C>T; p.T31M; 5:17275308-17275308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92C>T; p.T31M; 5:17275308-17275308

 pancreascarcinomaSubstitution - Missense

c.61G>A; p.E21K; 5:17275277-17275277

 skinmalignant_melanomaSubstitution - Missense

c.61G>A; p.E21K; 5:17275277-17275277

 skinmalignant_melanomaSubstitution - Missense

c.673G>A; p.V225M; 5:17275889-17275889

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.581G>T; p.S194I; 5:17275797-17275797

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.132G>A; p.A44A; 5:17275348-17275348

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.46G>A; p.D16N; 5:17275262-17275262

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>T; p.E50*; 5:17275364-17275364

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.63G>A; p.E21E; 5:17275279-17275279

 bone; humerusother; chondroblastomaSubstitution - coding silent

c.43A>T; p.N15Y; 5:17275259-17275259

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.111G>A; p.P37P; 5:17275327-17275327

 breastcarcinomaSubstitution - coding silent

c.459G>A; p.A153A; 5:17275675-17275675

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.111G>A; p.P37P; 5:17275327-17275327

 skinmalignant_melanomaSubstitution - coding silent

c.459G>A; p.A153A; 5:17275675-17275675

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.459G>A; p.A153A; 5:17275675-17275675

 livercarcinomaSubstitution - coding silent

c.166G>A; p.E56K; 5:17275382-17275382

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.531G>A; p.S177S; 5:17275747-17275747

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.531G>A; p.S177S; 5:17275747-17275747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.475G>A; p.A159T; 5:17275691-17275691

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.584C>A; p.S195Y; 5:17275800-17275800

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.131C>T; p.A44V; 5:17275347-17275347

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.475G>T; p.A159S; 5:17275691-17275691

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.405T>C; p.P135P; 5:17275621-17275621

 pancreascarcinomaSubstitution - coding silent

c.86C>T; p.A29V; 5:17275302-17275302

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.86C>T; p.A29V; 5:17275302-17275302

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.186C>T; p.A62A; 5:17275402-17275402

 breastcarcinomaSubstitution - coding silent

c.183C>T; p.D61D; 5:17275399-17275399

 central_nervous_system; braingliomaSubstitution - coding silent

c.671C>A; p.T224N; 5:17275887-17275887

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.657C>T; p.S219S; 5:17275873-17275873

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.49G>A; p.E17K; 5:17275265-17275265

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.11A>C; p.K4T; 5:17275227-17275227

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.11A>C; p.K4T; 5:17275227-17275227

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.495C>T; p.D165D; 5:17275711-17275711

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.495C>T; p.D165D; 5:17275711-17275711

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.104G>A; p.G35E; 5:17275320-17275320

 skinmalignant_melanomaSubstitution - Missense

c.104G>A; p.G35E; 5:17275320-17275320

 skinmalignant_melanomaSubstitution - Missense

c.45C>T; p.N15N; 5:17275261-17275261

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.584C>T; p.S195F; 5:17275800-17275800

 skinmalignant_melanomaSubstitution - Missense

c.352G>A; p.E118K; 5:17275568-17275568

 pancreascarcinomaSubstitution - Missense

c.541C>A; p.P181T; 5:17275757-17275757

 breastcarcinomaSubstitution - Missense

c.474C>T; p.A158A; 5:17275690-17275690

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.474C>T; p.A158A; 5:17275690-17275690

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.462C>T; p.P154P; 5:17275678-17275678

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.215A>T; p.E72V; 5:17275431-17275431

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.538G>T; p.A180S; 5:17275754-17275754

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.576G>A; p.A192A; 5:17275792-17275792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.541C>T; p.P181S; 5:17275757-17275757

 skinmalignant_melanomaSubstitution - Missense

c.14T>C; p.L5P; 5:17275230-17275230

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.616G>T; p.A206S; 5:17275832-17275832

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.174C>A; p.P58P; 5:17275390-17275390

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.136G>A; p.A46T; 5:17275352-17275352

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.134C>T; p.A45V; 5:17275350-17275350

 skinmalignant_melanomaSubstitution - Missense

c.56C>G; p.A19G; 5:17275272-17275272

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.109C>T; p.P37S; 5:17275325-17275325

 skinmalignant_melanomaSubstitution - Missense

c.213C>T; p.G71G; 5:17275429-17275429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.213C>T; p.G71G; 5:17275429-17275429

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.596C>T; p.A199V; 5:17275812-17275812

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.303G>A; p.P101P; 5:17275519-17275519

 livercarcinomaSubstitution - coding silent

c.303G>A; p.P101P; 5:17275519-17275519

 livercarcinomaSubstitution - coding silent

c.200A>G; p.E67G; 5:17275416-17275416

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.89C>T; p.A30V; 5:17275305-17275305

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.228G>A; p.A76A; 5:17275444-17275444

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.636G>T; p.V212V; 5:17275852-17275852

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.561C>T; p.P187P; 5:17275777-17275777

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.348C>T; p.G116G; 5:17275564-17275564

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.101A>G; p.E34G; 5:17275317-17275317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.A93V; 5:17275494-17275494

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.562G>A; p.A188T; 5:17275778-17275778

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.562G>A; p.A188T; 5:17275778-17275778

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.84C>T; p.G28G; 5:17275300-17275300

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.84C>T; p.G28G; 5:17275300-17275300

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

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