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

Basic Information

Gene ID

274

Name

BIN1

Synonymous

bridging integrator 1;BIN1;bridging integrator 1

Definition

amphiphysin II|amphiphysin-like protein|box dependant MYC interacting protein 1|box-dependent myc-interacting protein 1|myc box-dependent-interacting protein 1

Position

2q14

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 0.18.

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.1224C>A; p.P408P; 2:127053920-127053920

 thyroidother; neoplasmSubstitution - coding silent

c.1627G>T; p.A543S; 2:127050468-127050468

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.692G>A; p.W231*; 2:127063939-127063939

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.416G>T; p.R139L; 2:127069027-127069027

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1563C>T; p.F521F; 2:127050811-127050811

 skinmalignant_melanomaSubstitution - coding silent

c.866C>A; p.A289E; 2:127059147-127059147

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.486T>C; p.T162T; 2:127068957-127068957

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.160C>T; p.Q54*; 2:127076631-127076631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.486T>C; p.T162T; 2:127068957-127068957

 thyroidother; neoplasmSubstitution - coding silent

c.764A>G; p.E255G; 2:127063581-127063581

 NSNSSubstitution - Missense

c.486T>C; p.T162T; 2:127068957-127068957

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.403G>A; p.D135N; 2:127070003-127070003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403G>A; p.D135N; 2:127070003-127070003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403G>A; p.D135N; 2:127070003-127070003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.527C>T; p.S176L; 2:127068248-127068248

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.527C>T; p.S176L; 2:127068248-127068248

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.905G>A; p.G302D; 2:127059108-127059108

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1747G>A; p.V583I; 2:127048561-127048561

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.273G>T; p.E91D; 2:127070595-127070595

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1781G>T; p.*594L; 2:127048527-127048527

 livercarcinoma; hepatocellular_carcinomaNonstop extension

c.687C>T; p.S229S; 2:127063944-127063944

 skinmalignant_melanomaSubstitution - coding silent

c.739G>A; p.G247S; 2:127063606-127063606

 skinmalignant_melanomaSubstitution - Missense

c.502G>A; p.E168K; 2:127068941-127068941

 skinmalignant_melanomaSubstitution - Missense

c.576T>G; p.A192A; 2:127068199-127068199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.698+10A>G; p.?; 2:127063923-127063923

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1353C>T; p.A451A; 2:127052273-127052273

 pancreascarcinomaSubstitution - coding silent

c.1401G>A; p.G467G; 2:127051214-127051214

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1745G>T; p.G582V; 2:127048563-127048563

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.669G>A; p.L223L; 2:127063962-127063962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1621C>G; p.L541V; 2:127050474-127050474

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.570G>A; p.L190L; 2:127068205-127068205

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.796G>A; p.V266M; 2:127062176-127062176

 pancreascarcinomaSubstitution - Missense

c.796G>A; p.V266M; 2:127062176-127062176

 pancreascarcinomaSubstitution - Missense

c.957C>T; p.A319A; 2:127059056-127059056

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.957C>T; p.A319A; 2:127059056-127059056

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1264-10_1264-9insTGTGGGGGG; p.?; 2:127052371-127052372

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.957C>T; p.A319A; 2:127059056-127059056

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1359G>A; p.P453P; 2:127052267-127052267

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.277G>A; p.D93N; 2:127070591-127070591

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.866C>T; p.A289V; 2:127059147-127059147

 lungcarcinoma; mucoepidermoid_carcinomaSubstitution - Missense

c.86T>G; p.V29G; 2:127076705-127076705

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.179G>A; p.R60Q; 2:127070803-127070803

 central_nervous_system; braingliomaSubstitution - Missense

c.1618C>T; p.Q540*; 2:127050477-127050477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1618C>T; p.Q540*; 2:127050477-127050477

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.532C>A; p.L178I; 2:127068243-127068243

 skinmalignant_melanomaSubstitution - Missense

c.532C>A; p.L178I; 2:127068243-127068243

 skinmalignant_melanomaSubstitution - Missense

c.1596G>A; p.T532T; 2:127050499-127050499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.278A>G; p.D93G; 2:127070590-127070590

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.177C>T; p.T59T; 2:127070805-127070805

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1539G>A; p.G513G; 2:127050835-127050835

 pancreascarcinomaSubstitution - coding silent

c.1539G>A; p.G513G; 2:127050835-127050835

 pancreascarcinomaSubstitution - coding silent

c.1625A>T; p.K542M; 2:127050470-127050470

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1625A>T; p.K542M; 2:127050470-127050470

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1633G>A; p.D545N; 2:127050462-127050462

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.604C>T; p.R202*; 2:127068171-127068171

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1362G>A; p.G454G; 2:127052264-127052264

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.337G>C; p.D113H; 2:127070069-127070069

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1474G>T; p.A492S; 2:127050900-127050900

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.546C>T; p.A182A; 2:127068229-127068229

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1549C>T; p.L517L; 2:127050825-127050825

 skinmalignant_melanomaSubstitution - coding silent

c.1321A>G; p.T441A; 2:127052305-127052305

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.894G>A; p.S298S; 2:127059119-127059119

 thyroidother; neoplasmSubstitution - coding silent

c.894G>A; p.S298S; 2:127059119-127059119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.33G>C; p.A11A; 2:127106911-127106911

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1653C>T; p.P551P; 2:127050442-127050442

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1309G>A; p.A437T; 2:127052317-127052317

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1461+1G>A; p.?; 2:127051153-127051153

 stomachcarcinoma; adenocarcinomaUnknown

c.864C>T; p.N288N; 2:127059149-127059149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.85-4G>A; p.?; 2:127076710-127076710

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.671A>T; p.Q224L; 2:127063960-127063960

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1252G>A; p.D418N; 2:127053433-127053433

 skinmalignant_melanomaSubstitution - Missense

c.698+8C>T; p.?; 2:127063925-127063925

 skin; head_neckmalignant_melanoma; superficial_spreadingUnknown

c.1093A>T; p.T365S; 2:127057511-127057511

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.903T>G; p.D301E; 2:127059110-127059110

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.292G>T; p.D98Y; 2:127070576-127070576

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.684G>A; p.P228P; 2:127063947-127063947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.285C>T; p.P95P; 2:127070583-127070583

 skinmalignant_melanomaSubstitution - coding silent

c.470A>T; p.Y157F; 2:127068973-127068973

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.755T>A; p.F252Y; 2:127063590-127063590

 skinmalignant_melanomaSubstitution - Missense

c.1573G>T; p.V525L; 2:127050522-127050522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.175A>G; p.T59A; 2:127070807-127070807

 pancreascarcinomaSubstitution - Missense

c.652G>A; p.E218K; 2:127063979-127063979

 skinmalignant_melanomaSubstitution - Missense

c.1652C>T; p.P551L; 2:127050443-127050443

 skinmalignant_melanomaSubstitution - Missense

c.907T>C; p.S303P; 2:127059106-127059106

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.175_176AC>GA; p.T59D; 2:127070806-127070807

 pancreascarcinomaSubstitution - Missense

c.1007G>A; p.R336Q; 2:127057597-127057597

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.676_678delGAG; p.E226delE; 2:127063953-127063955

 livercarcinoma; hepatocellular_carcinomaDeletion - In frame

c.1165A>T; p.S389C; 2:127053979-127053979

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.408C>A; p.I136I; 2:127069998-127069998

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.477C>T; p.S159S; 2:127068966-127068966

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1193T>C; p.L398P; 2:127053951-127053951

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.160C>A; p.Q54K; 2:127076631-127076631

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.589C>G; p.Q197E; 2:127068186-127068186

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1622T>G; p.L541R; 2:127050473-127050473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1719G>T; p.Q573H; 2:127048589-127048589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1630G>A; p.G544S; 2:127050465-127050465

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.908C>G; p.S303C; 2:127059105-127059105

 breastcarcinomaSubstitution - Missense

c.1746C>T; p.G582G; 2:127048562-127048562

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.176C>A; p.T59N; 2:127070806-127070806

 pancreascarcinomaSubstitution - Missense

c.1609G>T; p.D537Y; 2:127050486-127050486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355delG; p.V119fs*6; 2:127070051-127070051

 breastcarcinomaDeletion - Frameshift

c.444G>A; p.V148V; 2:127068999-127068999

 skin; upper_legmalignant_melanomaSubstitution - coding silent

c.843C>G; p.V281V; 2:127062129-127062129

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.657G>A; p.M219I; 2:127063974-127063974

 prostatecarcinomaSubstitution - Missense

c.1227G>A; p.T409T; 2:127053917-127053917

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.433C>G; p.R145G; 2:127069010-127069010

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.657G>A; p.M219I; 2:127063974-127063974

 prostatecarcinomaSubstitution - Missense

c.657G>A; p.M219I; 2:127063974-127063974

 prostatecarcinomaSubstitution - Missense

c.1227G>A; p.T409T; 2:127053917-127053917

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1419A>G; p.G473G; 2:127051196-127051196

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1194C>A; p.L398L; 2:127053950-127053950

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1194C>A; p.L398L; 2:127053950-127053950

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.494delA; p.K165fs*31; 2:127068949-127068949

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.193C>T; p.L65F; 2:127070789-127070789

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.701G>A; p.R234H; 2:127063644-127063644

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1707C>T; p.S569S; 2:127048601-127048601

 breastcarcinomaSubstitution - coding silent

c.688C>T; p.L230L; 2:127063943-127063943

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.888C>T; p.S296S; 2:127059125-127059125

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.85-1G>A; p.?; 2:127076707-127076707

 urinary_tract; bladdercarcinomaUnknown

c.1241C>G; p.S414*; 2:127053444-127053444

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1477G>A; p.V493I; 2:127050897-127050897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1292C>T; p.P431L; 2:127052334-127052334

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.550delC; p.Q184fs*12; 2:127068225-127068225

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1618C>A; p.Q540K; 2:127050477-127050477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260A>T; p.Q87L; 2:127070608-127070608

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.187A>G; p.K63E; 2:127070795-127070795

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.402C>T; p.P134P; 2:127070004-127070004

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.262G>T; p.E88*; 2:127070606-127070606

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1696G>A; p.V566M; 2:127048612-127048612

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.714C>T; p.Y238Y; 2:127063631-127063631

 thyroidother; neoplasmSubstitution - coding silent

c.1297G>A; p.G433R; 2:127052329-127052329

 skinmalignant_melanomaSubstitution - Missense

c.79_81delGAG; p.E27delE; 2:127106863-127106865

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1281C>T; p.A427A; 2:127052345-127052345

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1622T>A; p.L541H; 2:127050473-127050473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.233C>T; p.A78V; 2:127070635-127070635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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