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

Basic Information

Gene ID

3688

Name

ITGB1

Synonymous

integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12);ITGB1;integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)

Definition

glycoprotein IIa|integrin VLA-4 beta subunit|integrin beta-1|very late activation protein, beta polypeptide

Position

10p11.2

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 0.06.

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.472G>A; p.D158N; 10:32928169-32928169

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.471C>T; p.D157D; 10:32928170-32928170

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1483C>A; p.R495S; 10:32912111-32912111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.364C>T; p.R122*; 10:32929834-32929834

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2475G>A; p.P825P; 10:32901608-32901608

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1433A>G; p.H478R; 10:32919921-32919921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1776T>C; p.C592C; 10:32911603-32911603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1593C>T; p.C531C; 10:32912001-32912001

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.991A>T; p.I331F; 10:32922687-32922687

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1461C>T; p.G487G; 10:32919893-32919893

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1594G>A; p.V532I; 10:32912000-32912000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2448-4G>T; p.?; 10:32901639-32901639

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2018T>C; p.V673A; 10:32910369-32910369

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1282A>G; p.I428V; 10:32920072-32920072

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1469G>A; p.R490K; 10:32919885-32919885

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1839C>T; p.C613C; 10:32911540-32911540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1839C>T; p.C613C; 10:32911540-32911540

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1496A>T; p.H499L; 10:32912098-32912098

 skinmalignant_melanomaSubstitution - Missense

c.1975G>C; p.D659H; 10:32910412-32910412

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.451C>T; p.L151L; 10:32928190-32928190

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1483C>T; p.R495C; 10:32912111-32912111

 breastcarcinomaSubstitution - Missense

c.2293A>G; p.K765E; 10:32908406-32908406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1722C>T; p.C574C; 10:32911657-32911657

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1889G>A; p.C630Y; 10:32911490-32911490

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.824T>G; p.V275G; 10:32923703-32923703

 breastcarcinomaSubstitution - Missense

c.717G>A; p.Q239Q; 10:32925940-32925940

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.581C>G; p.P194R; 10:32926076-32926076

 thyroidcarcinomaSubstitution - Missense

c.1836C>G; p.I612M; 10:32911543-32911543

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2000A>G; p.Y667C; 10:32910387-32910387

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.955A>G; p.I319V; 10:32922723-32922723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1810G>A; p.G604R; 10:32911569-32911569

 stomachadenocarcinomaSubstitution - Missense

c.793A>G; p.I265V; 10:32923734-32923734

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1843T>C; p.C615R; 10:32911536-32911536

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724T>A; p.S242T; 10:32925933-32925933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.292C>T; p.R98C; 10:32929906-32929906

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.783T>C; p.C261C; 10:32925874-32925874

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3G>C; p.M1I; 10:32935556-32935556

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.445A>G; p.M149V; 10:32928196-32928196

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1409G>A; p.G470D; 10:32919945-32919945

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.445A>C; p.M149L; 10:32928196-32928196

 breastcarcinomaSubstitution - Missense

c.488A>C; p.K163T; 10:32928153-32928153

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1209C>T; p.N403N; 10:32920305-32920305

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1209C>T; p.N403N; 10:32920305-32920305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1147A>T; p.I383F; 10:32920367-32920367

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1209C>T; p.N403N; 10:32920305-32920305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1209C>T; p.N403N; 10:32920305-32920305

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.270G>T; p.K90N; 10:32929928-32929928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.270G>T; p.K90N; 10:32929928-32929928

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.L378I; 10:32920382-32920382

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.L378I; 10:32920382-32920382

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.L378I; 10:32920382-32920382

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.L378I; 10:32920382-32920382

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1469+1G>A; p.?; 10:32919884-32919884

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.285A>G; p.V95V; 10:32929913-32929913

 breastcarcinomaSubstitution - coding silent

c.2092G>A; p.D698N; 10:32910295-32910295

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2112G>A; p.T704T; 10:32910275-32910275

 livercarcinomaSubstitution - coding silent

c.2112G>A; p.T704T; 10:32910275-32910275

 livercarcinomaSubstitution - coding silent

c.135T>C; p.C45C; 10:32932533-32932533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.34A>C; p.I12L; 10:32935525-32935525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1416T>C; p.P472P; 10:32919938-32919938

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2457C>T; p.I819I; 10:32901626-32901626

 skinmalignant_melanomaSubstitution - coding silent

c.1055T>C; p.I352T; 10:32922330-32922330

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.373T>A; p.S125T; 10:32929825-32929825

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1419A>T; p.E473D; 10:32919935-32919935

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.702A>G; p.E234E; 10:32925955-32925955

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2310A>C; p.K770N; 10:32908389-32908389

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1123T>G; p.Y375D; 10:32922262-32922262

 livercarcinomaSubstitution - Missense

c.2231G>A; p.G744D; 10:32908468-32908468

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1041G>T; p.E347D; 10:32922344-32922344

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2266A>T; p.I756L; 10:32908433-32908433

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.963C>T; p.H321H; 10:32922715-32922715

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1313delA; p.K438fs*17; 10:32920041-32920041

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1225G>T; p.G409W; 10:32920289-32920289

 pancreascarcinomaSubstitution - Missense

c.1985C>T; p.T662I; 10:32910402-32910402

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.266T>C; p.I89T; 10:32929932-32929932

 pancreascarcinomaSubstitution - Missense

c.1506C>T; p.C502C; 10:32912088-32912088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2224C>A; p.L742I; 10:32908475-32908475

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2194A>C; p.I732L; 10:32908505-32908505

 livercarcinomaSubstitution - Missense

c.2330C>T; p.T777M; 10:32908369-32908369

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2330C>T; p.T777M; 10:32908369-32908369

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2194A>C; p.I732L; 10:32908505-32908505

 livercarcinomaSubstitution - Missense

c.384A>G; p.P128P; 10:32928257-32928257

 breastcarcinomaSubstitution - coding silent

c.1484G>A; p.R495H; 10:32912110-32912110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.929T>C; p.M310T; 10:32923598-32923598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1513G>C; p.D505H; 10:32912081-32912081

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1314G>T; p.K438N; 10:32920040-32920040

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2131A>G; p.N711D; 10:32910256-32910256

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.447G>T; p.M149I; 10:32928194-32928194

 skinmalignant_melanomaSubstitution - Missense

c.1942C>T; p.Q648*; 10:32910445-32910445

 breastcarcinomaSubstitution - Nonsense

c.756C>T; p.F252F; 10:32925901-32925901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2050C>G; p.Q684E; 10:32910337-32910337

 breastcarcinomaSubstitution - Missense

c.542G>A; p.R181K; 10:32928099-32928099

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1256C>T; p.S419F; 10:32920258-32920258

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1289T>C; p.I430T; 10:32920065-32920065

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1288A>G; p.I430V; 10:32920066-32920066

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1334T>A; p.I445N; 10:32920020-32920020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1412T>A; p.I471N; 10:32919942-32919942

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2228T>C; p.I743T; 10:32908471-32908471

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1352C>T; p.T451M; 10:32920002-32920002

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.238A>G; p.I80V; 10:32929960-32929960

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.786+2T>C; p.?; 10:32925869-32925869

 stomachcarcinoma; adenocarcinomaUnknown

c.433C>T; p.L145F; 10:32928208-32928208

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1958A>G; p.N653S; 10:32910429-32910429

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1576A>G; p.S526G; 10:32912018-32912018

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1749C>T; p.P583P; 10:32911630-32911630

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.656A>G; p.Y219C; 10:32926001-32926001

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.453G>T; p.L151L; 10:32928188-32928188

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1207A>G; p.N403D; 10:32920307-32920307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1207A>G; p.N403D; 10:32920307-32920307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.17T>G; p.I6S; 10:32935542-32935542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.33G>A; p.L11L; 10:32935526-32935526

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1636G>A; p.E546K; 10:32911958-32911958

 thyroidcarcinomaSubstitution - Missense

c.826T>C; p.F276L; 10:32923701-32923701

 breastcarcinomaSubstitution - Missense

c.1160G>A; p.G387D; 10:32920354-32920354

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.178A>G; p.T60A; 10:32930020-32930020

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.L370L; 10:32922275-32922275

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1730G>A; p.R577H; 10:32911649-32911649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1158C>T; p.N386N; 10:32920356-32920356

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1086A>C; p.A362A; 10:32922299-32922299

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.260A>G; p.K87R; 10:32929938-32929938

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1596C>T; p.V532V; 10:32911998-32911998

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.719G>A; p.R240H; 10:32925938-32925938

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.327G>A; p.E109E; 10:32929871-32929871

 skinmalignant_melanomaSubstitution - coding silent

c.942+7G>T; p.?; 10:32923578-32923578

 kidneyother; neoplasmUnknown

c.290A>G; p.N97S; 10:32929908-32929908

 prostatecarcinomaSubstitution - Missense

c.490delA; p.S164fs*6; 10:32928151-32928151

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.877A>G; p.I293V; 10:32923650-32923650

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1674C>T; p.F558F; 10:32911920-32911920

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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