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

Basic Information

Gene ID

695

Name

BTK

Synonymous

Bruton agammaglobulinemia tyrosine kinase;BTK;Bruton agammaglobulinemia tyrosine kinase

Definition

B-cell progenitor kinase|agammaglobulinaemia tyrosine kinase|dominant-negative kinase-deficient Brutons tyrosine kinase|truncated Bruton agammaglobulinemia tyrosine kinase|tyrosine-protein kinase BTK|tyrosine-protein kinase BTK isoform (lacking exon 14)

Position

Xq21.33-q22

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 0.03.

The copy number variations for various cancers

Top

There is no record for BTK

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.654G>T; p.K218N; 23:101360690-101360690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1186G>A; p.E396K; 23:101356947-101356947

 skinmalignant_melanomaSubstitution - Missense

c.683T>C; p.M228T; 23:101360661-101360661

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1870G>A; p.E624K; 23:101353232-101353232

 skinmalignant_melanomaSubstitution - Missense

c.65C>A; p.P22H; 23:101375220-101375220

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.31C>G; p.L11V; 23:101375254-101375254

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1432G>A; p.A478T; 23:101356186-101356186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1474C>T; p.R492C; 23:101356144-101356144

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1818T>G; p.T606T; 23:101353284-101353284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.491G>C; p.G164A; 23:101362590-101362590

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.391G>A; p.V131I; 23:101369998-101369998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1775C>T; p.S592F; 23:101353327-101353327

 skinmalignant_melanomaSubstitution - Missense

c.6C>T; p.A2A; 23:101375279-101375279

 thyroidcarcinomaSubstitution - coding silent

c.736G>A; p.E246K; 23:101360608-101360608

 skinmalignant_melanomaSubstitution - Missense

c.1775C>T; p.S592F; 23:101353327-101353327

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1803T>C; p.F601F; 23:101353299-101353299

 lungcarcinoma; mixed_small_cell_carcinoma-adenocarcinomaSubstitution - coding silent

c.12G>A; p.V4V; 23:101375273-101375273

 skinmalignant_melanomaSubstitution - coding silent

c.1471C>G; p.H491D; 23:101356147-101356147

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1278C>T; p.D426D; 23:101356855-101356855

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1278C>T; p.D426D; 23:101356855-101356855

 pancreascarcinomaSubstitution - coding silent

c.241-2A>G; p.?; 23:101371703-101371703

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaUnknown

c.1522G>A; p.A508T; 23:101356096-101356096

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.152G>A; p.S51N; 23:101374624-101374624

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.740G>A; p.S247N; 23:101360604-101360604

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>A; p.A508T; 23:101356096-101356096

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.539C>T; p.S180F; 23:101362222-101362222

 skinmalignant_melanomaSubstitution - Missense

c.264A>C; p.E88D; 23:101371678-101371678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1640T>A; p.L547Q; 23:101353980-101353980

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IIISubstitution - Missense

c.577G>A; p.E193K; 23:101362184-101362184

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.577G>A; p.E193K; 23:101362184-101362184

 breastcarcinomaSubstitution - Missense

c.1475G>A; p.R492H; 23:101356143-101356143

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1584G>T; p.L528F; 23:101354677-101354677

 skinmalignant_melanomaSubstitution - Missense

c.568_569CC>AA; p.P190K; 23:101362192-101362193

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.568_569CC>AA; p.P190K; 23:101362192-101362193

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.892G>A; p.E298K; 23:101359295-101359295

 breastcarcinomaSubstitution - Missense

c.589A>G; p.I197V; 23:101360755-101360755

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1659C>A; p.S553R; 23:101353961-101353961

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1564C>T; p.L522L; 23:101356054-101356054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.866G>A; p.S289N; 23:101359321-101359321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169G>A; p.D57N; 23:101374607-101374607

 skinmalignant_melanomaSubstitution - Missense

c.253G>T; p.E85*; 23:101371689-101371689

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.434G>C; p.C145S; 23:101362647-101362647

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1548G>A; p.Q516Q; 23:101356070-101356070

 skinmalignant_melanomaSubstitution - coding silent

c.684G>C; p.M228I; 23:101360660-101360660

 breastcarcinomaSubstitution - Missense

c.1480C>A; p.Q494K; 23:101356138-101356138

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1880A>G; p.Y627C; 23:101353222-101353222

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.377A>G; p.H126R; 23:101370012-101370012

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.442A>G; p.I148V; 23:101362639-101362639

 livercarcinomaSubstitution - Missense

c.442A>G; p.I148V; 23:101362639-101362639

 livercarcinomaSubstitution - Missense

c.1176C>T; p.Y392Y; 23:101357510-101357510

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1744G>A; p.A582T; 23:101353876-101353876

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.526A>C; p.K176Q; 23:101362235-101362235

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1006G>T; p.V336L; 23:101358406-101358406

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.L153F; 23:101362624-101362624

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1300G>A; p.E434K; 23:101356833-101356833

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1631G>T; p.R544M; 23:101354630-101354630

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.336C>T; p.Y112Y; 23:101370053-101370053

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.402C>T; p.Y134Y; 23:101362679-101362679

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1615G>A; p.D539N; 23:101354646-101354646

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.764G>A; p.R255Q; 23:101360580-101360580

 skinmalignant_melanomaSubstitution - Missense

c.1800A>G; p.R600R; 23:101353302-101353302

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1659C>T; p.S553S; 23:101353961-101353961

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.1590C>T; p.N530N; 23:101354671-101354671

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1922G>A; p.R641H; 23:101349943-101349943

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.368G>A; p.R123Q; 23:101370021-101370021

 livercarcinomaSubstitution - Missense

c.368G>A; p.R123Q; 23:101370021-101370021

 livercarcinomaSubstitution - Missense

c.245G>A; p.R82K; 23:101371697-101371697

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1489C>T; p.Q497*; 23:101356129-101356129

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.537T>C; p.S179S; 23:101362224-101362224

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1574G>C; p.R525P; 23:101354687-101354687

 breastcarcinomaSubstitution - Missense

c.5C>T; p.A2V; 23:101375280-101375280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1813G>A; p.E605K; 23:101353289-101353289

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.621A>G; p.A207A; 23:101360723-101360723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1800A>T; p.R600S; 23:101353302-101353302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1800A>T; p.R600S; 23:101353302-101353302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.560C>T; p.P187L; 23:101362201-101362201

 skinmalignant_melanomaSubstitution - Missense

c.1698G>A; p.P566P; 23:101353922-101353922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1472A>G; p.H491R; 23:101356146-101356146

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591C>A; p.I197I; 23:101360753-101360753

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.775G>T; p.G259W; 23:101360569-101360569

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.163T>G; p.S55A; 23:101374613-101374613

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.496C>A; p.Q166K; 23:101362585-101362585

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.242G>A; p.R81K; 23:101371700-101371700

 skinmalignant_melanomaSubstitution - Missense

c.957G>C; p.V319V; 23:101358634-101358634

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.993A>G; p.I331M; 23:101358419-101358419

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1227delG; p.T410fs*6; 23:101356906-101356906

 thyroidcarcinoma; anaplastic_carcinomaDeletion - Frameshift

c.820G>A; p.D274N; 23:101360107-101360107

 breastcarcinomaSubstitution - Missense

c.178A>G; p.K60E; 23:101374598-101374598

 breastcarcinomaSubstitution - Missense

c.1081T>A; p.Y361N; 23:101358331-101358331

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1766A>G; p.E589G; 23:101353336-101353336

 skinmalignant_melanomaSubstitution - Missense

c.1035C>A; p.Y345*; 23:101358377-101358377

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.995G>A; p.R332H; 23:101358417-101358417

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.995G>A; p.R332H; 23:101358417-101358417

 breastcarcinomaSubstitution - Missense

c.322G>A; p.E108K; 23:101370067-101370067

 skinmalignant_melanomaSubstitution - Missense

c.975-1G>T; p.?; 23:101358438-101358438

 breastcarcinoma; basal_(triple-negative)_carcinomaUnknown

c.609G>A; p.P203P; 23:101360735-101360735

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.91C>A; p.L31I; 23:101375194-101375194

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1386C>T; p.G462G; 23:101356232-101356232

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1386C>T; p.G462G; 23:101356232-101356232

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.482A>C; p.N161T; 23:101362599-101362599

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.569C>A; p.P190Q; 23:101362192-101362192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1350-4G>T; p.?; 23:101356272-101356272

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1150G>A; p.A384T; 23:101357536-101357536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.901G>A; p.E301K; 23:101358690-101358690

 skinmalignant_melanomaSubstitution - Missense

c.725T>A; p.F242Y; 23:101360619-101360619

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.352G>A; p.E118K; 23:101370037-101370037

 skinmalignant_melanomaSubstitution - Missense

c.897G>A; p.G299G; 23:101358694-101358694

 pancreascarcinomaSubstitution - coding silent

c.136C>T; p.R46C; 23:101375149-101375149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1807A>G; p.N603D; 23:101353295-101353295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.471G>T; p.Q157H; 23:101362610-101362610

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1599A>T; p.G533G; 23:101354662-101354662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1558C>A; p.R520R; 23:101356060-101356060

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1468C>T; p.R490C; 23:101356150-101356150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1468C>T; p.R490C; 23:101356150-101356150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863G>A; p.R288Q; 23:101359324-101359324

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863G>A; p.R288Q; 23:101359324-101359324

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.987G>T; p.G329G; 23:101358425-101358425

 central_nervous_system; braingliomaSubstitution - coding silent

c.513G>T; p.R171S; 23:101362568-101362568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1426T>A; p.Y476N; 23:101356192-101356192

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1152A>G; p.A384A; 23:101357534-101357534

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1648G>A; p.E550K; 23:101353972-101353972

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.371G>A; p.W124*; 23:101370018-101370018

 skinmalignant_melanomaSubstitution - Nonsense

c.960T>C; p.F320F; 23:101358631-101358631

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.42C>A; p.S14S; 23:101375243-101375243

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1559G>C; p.R520P; 23:101356059-101356059

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.198A>T; p.T66T; 23:101374578-101374578

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1001A>G; p.Y334C; 23:101358411-101358411

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1935A>C; p.K645N; 23:101349930-101349930

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1059C>T; p.S353S; 23:101358353-101358353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.975-8T>G; p.?; 23:101358445-101358445

 prostatecarcinomaUnknown

c.880C>A; p.L294M; 23:101359307-101359307

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1192G>A; p.D398N; 23:101356941-101356941

 skinmalignant_melanomaSubstitution - Missense

c.294C>T; p.F98F; 23:101371648-101371648

 skinmalignant_melanomaSubstitution - coding silent

c.54G>A; p.K18K; 23:101375231-101375231

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1349+6T>G; p.?; 23:101356778-101356778

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.1630A>T; p.R544W; 23:101354631-101354631

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.82C>T; p.R28C; 23:101375203-101375203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.721T>G; p.Y241D; 23:101360623-101360623

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1645G>A; p.D549N; 23:101353975-101353975

 skinmalignant_melanomaSubstitution - Missense

c.7G>T; p.A3S; 23:101375278-101375278

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.7G>T; p.A3S; 23:101375278-101375278

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1471C>T; p.H491Y; 23:101356147-101356147

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1471C>T; p.H491Y; 23:101356147-101356147

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.6C>A; p.A2A; 23:101375279-101375279

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1349+1G>T; p.?; 23:101356783-101356783

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.794C>T; p.P265L; 23:101360133-101360133

 skinmalignant_melanomaSubstitution - Missense

c.1061C>T; p.T354I; 23:101358351-101358351

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1247T>C; p.V416A; 23:101356886-101356886

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.78G>T; p.K26N; 23:101375207-101375207

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.582G>T; p.E194D; 23:101362179-101362179

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>A; p.E348K; 23:101358370-101358370

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.183C>A; p.I61I; 23:101374593-101374593

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.420G>A; p.Q140Q; 23:101362661-101362661

 breastcarcinomaSubstitution - coding silent

c.1126C>T; p.P376S; 23:101357560-101357560

 skinmalignant_melanomaSubstitution - Missense

c.499A>G; p.I167V; 23:101362582-101362582

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1559G>A; p.R520Q; 23:101356059-101356059

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.103C>A; p.H35N; 23:101375182-101375182

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1103-3C>T; p.?; 23:101357586-101357586

 livercarcinomaUnknown

c.372G>A; p.W124*; 23:101370017-101370017

 skinmalignant_melanomaSubstitution - Nonsense

c.444C>T; p.I148I; 23:101362637-101362637

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.237T>C; p.I79I; 23:101374539-101374539

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1409T>G; p.I470S; 23:101356209-101356209

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

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