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

Basic Information

Gene ID

9046

Name

DOK2

Synonymous

docking protein 2, 56kDa;DOK2;docking protein 2, 56kDa

Definition

docking protein 2|docking protein 2, 56kD|downstream of tyrosine kinase 2|p56(dok-2)

Position

8p21.3

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.11.

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.562_563GG>TA; p.G188*; 8:21910728-21910729

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.182G>A; p.R61H; 8:21912392-21912392

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1129G>A; p.D377N; 8:21909421-21909421

 skinmalignant_melanomaSubstitution - Missense

c.933G>T; p.G311G; 8:21909617-21909617

 skinmalignant_melanomaSubstitution - coding silent

c.70C>T; p.R24C; 8:21912504-21912504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.70C>T; p.R24C; 8:21912504-21912504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.70C>T; p.R24C; 8:21912504-21912504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.871C>T; p.R291W; 8:21909679-21909679

 thyroidcarcinomaSubstitution - Missense

c.70C>T; p.R24C; 8:21912504-21912504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.272G>A; p.R91H; 8:21912302-21912302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.288G>A; p.A96A; 8:21912286-21912286

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1234A>C; p.K412Q; 8:21909316-21909316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.301G>A; p.E101K; 8:21912273-21912273

 skin; extremitymalignant_melanomaSubstitution - Missense

c.922C>A; p.R308S; 8:21909628-21909628

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.424G>A; p.A142T; 8:21911910-21911910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.479C>A; p.A160D; 8:21910812-21910812

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.255C>T; p.F85F; 8:21912319-21912319

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.505T>C; p.S169P; 8:21910786-21910786

 breastcarcinomaSubstitution - Missense

c.46C>A; p.Q16K; 8:21913556-21913556

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.499delC; p.R167fs*41; 8:21910792-21910792

 livercarcinomaDeletion - Frameshift

c.644G>A; p.R215H; 8:21909906-21909906

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.519G>T; p.R173R; 8:21910772-21910772

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1068C>T; p.L356L; 8:21909482-21909482

 skinmalignant_melanomaSubstitution - coding silent

c.1068C>T; p.L356L; 8:21909482-21909482

 skinmalignant_melanomaSubstitution - coding silent

c.562G>A; p.G188R; 8:21910729-21910729

 skinmalignant_melanomaSubstitution - Missense

c.790C>A; p.L264M; 8:21909760-21909760

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.310G>A; p.D104N; 8:21912264-21912264

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237G>A; p.R79R; 8:21912337-21912337

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.173A>C; p.K58T; 8:21912401-21912401

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.434-7T>A; p.?; 8:21910864-21910864

 ovaryother; neoplasmUnknown

c.612G>A; p.R204R; 8:21910679-21910679

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.765G>A; p.P255P; 8:21909785-21909785

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.765G>A; p.P255P; 8:21909785-21909785

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.915G>C; p.A305A; 8:21909635-21909635

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.T228T; 8:21909866-21909866

 ovaryother; neoplasmSubstitution - coding silent

c.765G>A; p.P255P; 8:21909785-21909785

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1079C>T; p.P360L; 8:21909471-21909471

 skinmalignant_melanomaSubstitution - Missense

c.296C>A; p.A99E; 8:21912278-21912278

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.252C>A; p.F84L; 8:21912322-21912322

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.747A>G; p.A249A; 8:21909803-21909803

 pleurapulmonary_blastomaSubstitution - coding silent

c.73C>T; p.R25C; 8:21912501-21912501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.10G>A; p.G4R; 8:21913592-21913592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.516C>G; p.L172L; 8:21910775-21910775

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>A; p.A39A; 8:21912457-21912457

 livercarcinomaSubstitution - coding silent

c.117C>A; p.A39A; 8:21912457-21912457

 livercarcinomaSubstitution - coding silent

c.838C>A; p.P280T; 8:21909712-21909712

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.21A>G; p.K7K; 8:21913581-21913581

 prostatecarcinomaSubstitution - coding silent

c.299C>T; p.A100V; 8:21912275-21912275

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167Q; 8:21910791-21910791

 skinmalignant_melanomaSubstitution - Missense

c.500G>A; p.R167Q; 8:21910791-21910791

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1001_1002insT; p.E334fs*9; 8:21909548-21909549

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.649T>G; p.C217G; 8:21909901-21909901

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.598C>T; p.R200W; 8:21910693-21910693

 prostatecarcinomaSubstitution - Missense

c.598C>T; p.R200W; 8:21910693-21910693

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.759C>A; p.P253P; 8:21909791-21909791

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>A; p.P253P; 8:21909791-21909791

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>A; p.P253P; 8:21909791-21909791

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.577G>A; p.D193N; 8:21910714-21910714

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.577G>A; p.D193N; 8:21910714-21910714

 NSmalignant_melanomaSubstitution - Missense

c.1152C>A; p.V384V; 8:21909398-21909398

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.10G>T; p.G4W; 8:21913592-21913592

 skinmalignant_melanomaSubstitution - Missense

c.1152C>A; p.V384V; 8:21909398-21909398

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.82G>A; p.A28T; 8:21912492-21912492

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.82G>A; p.A28T; 8:21912492-21912492

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.170G>A; p.R57Q; 8:21912404-21912404

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1090C>T; p.R364W; 8:21909460-21909460

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.847C>A; p.P283T; 8:21909703-21909703

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1140C>A; p.G380G; 8:21909410-21909410

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1009C>T; p.L337L; 8:21909541-21909541

 skinmalignant_melanomaSubstitution - coding silent

c.17T>G; p.V6G; 8:21913585-21913585

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.659G>A; p.G220E; 8:21909891-21909891

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.84C>A; p.A28A; 8:21912490-21912490

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.447G>A; p.K149K; 8:21910844-21910844

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.447G>A; p.K149K; 8:21910844-21910844

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1083G>A; p.Q361Q; 8:21909467-21909467

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.499C>T; p.R167W; 8:21910792-21910792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.499C>T; p.R167W; 8:21910792-21910792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.53C>A; p.T18K; 8:21913549-21913549

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.149C>T; p.P50L; 8:21912425-21912425

 skinmalignant_melanomaSubstitution - Missense

c.728C>G; p.S243C; 8:21909822-21909822

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.72C>A; p.R24R; 8:21912502-21912502

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.287C>T; p.A96V; 8:21912287-21912287

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.967C>G; p.Q323E; 8:21909583-21909583

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.271C>T; p.R91C; 8:21912303-21912303

 breastcarcinomaSubstitution - Missense

c.1048G>T; p.G350*; 8:21909502-21909502

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.823C>T; p.H275Y; 8:21909727-21909727

 breastcarcinomaSubstitution - Missense

c.519G>C; p.R173R; 8:21910772-21910772

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1189C>G; p.Q397E; 8:21909361-21909361

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1189C>G; p.Q397E; 8:21909361-21909361

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.576C>T; p.Y192Y; 8:21910715-21910715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.955G>A; p.A319T; 8:21909595-21909595

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.990C>T; p.Y330Y; 8:21909560-21909560

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.640_641GG>TT; p.G214F; 8:21909909-21909910

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.590G>T; p.R197M; 8:21910701-21910701

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.611G>A; p.R204Q; 8:21910680-21910680

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.827A>T; p.D276V; 8:21909723-21909723

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1150G>T; p.V384F; 8:21909400-21909400

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.647G>A; p.R216H; 8:21909903-21909903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.647G>A; p.R216H; 8:21909903-21909903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1079C>G; p.P360R; 8:21909471-21909471

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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