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

Basic Information

Gene ID

29760

Name

BLNK

Synonymous

B-cell linker;BLNK;B-cell linker

Definition

B cell adaptor containing SH2 domain|B cell linker protein|B-cell activation|B-cell adapter containing a SH2 domain protein|B-cell adapter containing a Src homology 2 domain protein|B-cell linker protein|Src homology 2 domain-containing leukocyte protein

Position

10q23.2-q23.33

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 0.10.

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.547G>A; p.E183K; 10:96216713-96216713

 skinmalignant_melanomaSubstitution - Missense

c.900G>A; p.Q300Q; 10:96204534-96204534

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.490G>T; p.V164F; 10:96223861-96223861

 livercarcinomaSubstitution - Missense

c.490G>T; p.V164F; 10:96223861-96223861

 livercarcinomaSubstitution - Missense

c.490G>T; p.V164F; 10:96223861-96223861

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.641C>T; p.S214F; 10:96215356-96215356

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.728C>G; p.S243C; 10:96209856-96209856

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.731C>T; p.P244L; 10:96209853-96209853

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.731C>T; p.P244L; 10:96209853-96209853

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.664G>A; p.G222R; 10:96215333-96215333

 skinmalignant_melanomaSubstitution - Missense

c.978C>T; p.P326P; 10:96201015-96201015

 skinmalignant_melanomaSubstitution - coding silent

c.184G>A; p.E62K; 10:96230814-96230814

 skinmalignant_melanomaSubstitution - Missense

c.1235A>G; p.K412R; 10:96196924-96196924

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.574C>A; p.P192T; 10:96216686-96216686

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1115G>A; p.R372Q; 10:96197044-96197044

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.131C>T; p.P44L; 10:96242767-96242767

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.649C>T; p.P217S; 10:96215348-96215348

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.69T>A; p.H23Q; 10:96247028-96247028

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1227G>A; p.L409L; 10:96196932-96196932

 livercarcinomaSubstitution - coding silent

c.156C>T; p.Y52Y; 10:96242742-96242742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.310G>A; p.E104K; 10:96227461-96227461

 skinmalignant_melanomaSubstitution - Missense

c.1275C>T; p.I425I; 10:96192069-96192069

 breastcarcinomaSubstitution - coding silent

c.388C>T; p.P130S; 10:96223963-96223963

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.461C>A; p.P154Q; 10:96223890-96223890

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503C>T; p.P168L; 10:96223848-96223848

 skinmalignant_melanomaSubstitution - Missense

c.948G>A; p.G316G; 10:96201045-96201045

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.487C>T; p.Q163*; 10:96223864-96223864

 livercarcinomaSubstitution - Nonsense

c.487C>T; p.Q163*; 10:96223864-96223864

 livercarcinomaSubstitution - Nonsense

c.443G>A; p.R148K; 10:96223908-96223908

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.240C>T; p.D80D; 10:96227531-96227531

 skinmalignant_melanomaSubstitution - coding silent

c.1012G>A; p.E338K; 10:96200158-96200158

 skinmalignant_melanomaSubstitution - Missense

c.88G>A; p.G30S; 10:96247009-96247009

 skinmalignant_melanomaSubstitution - Missense

c.729C>T; p.S243S; 10:96209855-96209855

 skinmalignant_melanomaSubstitution - coding silent

c.942A>T; p.T314T; 10:96201051-96201051

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1196G>A; p.R399Q; 10:96196963-96196963

 skinmalignant_melanomaSubstitution - Missense

c.590C>T; p.S197L; 10:96216670-96216670

 skinmalignant_melanomaSubstitution - Missense

c.473C>T; p.A158V; 10:96223878-96223878

 breastcarcinomaSubstitution - Missense

c.1306C>T; p.L436F; 10:96192038-96192038

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.24_25insC; p.V9fs*16; 10:96271374-96271375

 skinmalignant_melanomaInsertion - Frameshift

c.85G>A; p.E29K; 10:96247012-96247012

 skinmalignant_melanomaSubstitution - Missense

c.396C>T; p.F132F; 10:96223955-96223955

 breastcarcinomaSubstitution - coding silent

c.264C>T; p.A88A; 10:96227507-96227507

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.108C>A; p.I36I; 10:96246989-96246989

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.393C>A; p.P131P; 10:96223958-96223958

 skinmalignant_melanomaSubstitution - coding silent

c.1333G>T; p.D445Y; 10:96192011-96192011

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.389C>T; p.P130L; 10:96223962-96223962

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.593C>A; p.P198H; 10:96216667-96216667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1333G>T; p.D445Y; 10:96192011-96192011

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.P87P; 10:96227510-96227510

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.553A>C; p.N185H; 10:96216707-96216707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1291C>A; p.H431N; 10:96192053-96192053

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.257T>C; p.M86T; 10:96227514-96227514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.140_141insGT; p.P48fs*39; 10:96242757-96242758

 livercarcinomaInsertion - Frameshift

c.538G>A; p.V180I; 10:96216722-96216722

 skin; armmalignant_melanomaSubstitution - Missense

c.259C>T; p.P87S; 10:96227512-96227512

 skinmalignant_melanomaSubstitution - Missense

c.472G>T; p.A158S; 10:96223879-96223879

 pancreascarcinoma; adenocarcinomaSubstitution - Missense

c.367C>T; p.R123*; 10:96223984-96223984

 skinmalignant_melanomaSubstitution - Nonsense

c.24C>T; p.T8T; 10:96271375-96271375

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.840C>T; p.R280R; 10:96204594-96204594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.540C>A; p.V180V; 10:96216720-96216720

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1204G>A; p.E402K; 10:96196955-96196955

 bone; femurchondrosarcomaSubstitution - Missense

c.450C>A; p.T150T; 10:96223901-96223901

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.382C>T; p.H128Y; 10:96223969-96223969

 oesophaguscarcinomaSubstitution - Missense

c.172G>A; p.A58T; 10:96230826-96230826

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.410C>T; p.P137L; 10:96223941-96223941

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.146G>A; p.R49Q; 10:96242752-96242752

 skinmalignant_melanomaSubstitution - Missense

c.838C>T; p.R280C; 10:96204596-96204596

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>T; p.E102*; 10:96227467-96227467

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.178G>A; p.E60K; 10:96230820-96230820

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.386C>T; p.S129F; 10:96223965-96223965

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.700A>G; p.T234A; 10:96209884-96209884

 skinmalignant_melanomaSubstitution - Missense

c.282C>A; p.D94E; 10:96227489-96227489

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.744C>T; p.A248A; 10:96209840-96209840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.215A>G; p.Y72C; 10:96227556-96227556

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.948G>C; p.G316G; 10:96201045-96201045

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.325C>T; p.H109Y; 10:96227446-96227446

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.325C>T; p.H109Y; 10:96227446-96227446

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.462G>A; p.P154P; 10:96223889-96223889

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.462G>A; p.P154P; 10:96223889-96223889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1246G>A; p.E416K; 10:96196913-96196913

 skinmalignant_melanomaSubstitution - Missense

c.1228G>A; p.G410S; 10:96196931-96196931

 bone; femurchondrosarcomaSubstitution - Missense

c.1283A>C; p.N428T; 10:96192061-96192061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.885G>A; p.V295V; 10:96204549-96204549

 stomachadenocarcinomaSubstitution - coding silent

c.757A>G; p.T253A; 10:96207889-96207889

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1362A>C; p.K454N; 10:96191982-96191982

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.242C>T; p.S81L; 10:96227529-96227529

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.741G>A; p.R247R; 10:96209843-96209843

 skinmalignant_melanomaSubstitution - coding silent

c.741G>A; p.R247R; 10:96209843-96209843

 skinmalignant_melanomaSubstitution - coding silent

c.559G>A; p.E187K; 10:96216701-96216701

 skinmalignant_melanomaSubstitution - Missense

c.451T>G; p.S151A; 10:96223900-96223900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.183G>A; p.E61E; 10:96230815-96230815

 skinmalignant_melanomaSubstitution - coding silent

c.716C>G; p.P239R; 10:96209868-96209868

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.809T>C; p.V270A; 10:96207019-96207019

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.428C>A; p.P143H; 10:96223923-96223923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.428C>A; p.P143H; 10:96223923-96223923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.251A>G; p.Y84C; 10:96227520-96227520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.428C>A; p.P143H; 10:96223923-96223923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.113+8C>T; p.?; 10:96246976-96246976

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.113+8C>T; p.?; 10:96246976-96246976

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.236C>T; p.S79L; 10:96227535-96227535

 skinmalignant_melanomaSubstitution - Missense

c.328C>A; p.P110T; 10:96227443-96227443

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.328C>A; p.P110T; 10:96227443-96227443

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.P100S; 10:96227473-96227473

 skinmalignant_melanomaSubstitution - Missense

c.171T>C; p.P57P; 10:96230827-96230827

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.963G>A; p.V321V; 10:96201030-96201030

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.677-2A>G; p.?; 10:96209909-96209909

 lungcarcinoma; adenocarcinomaUnknown

c.514C>T; p.L172F; 10:96223837-96223837

 skinmalignant_melanomaSubstitution - Missense

c.689G>A; p.G230E; 10:96209895-96209895

 skinmalignant_melanomaSubstitution - Missense

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