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

Basic Information

Gene ID

79930

Name

DOK3

Synonymous

docking protein 3;DOK3;docking protein 3

Definition

Dok-like protein|downstream of tyrosine kinase 3

Position

5q35.3

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

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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 0.04.

The copy number variations for various cancers

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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.1028T>G; p.M343R; 5:177504446-177504446

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.591G>T; p.R197S; 5:177505060-177505060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1085C>G; p.P362R; 5:177504389-177504389

 pancreascarcinomaSubstitution - Missense

c.1143C>T; p.Y381Y; 5:177504331-177504331

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1354C>A; p.Q452K; 5:177504120-177504120

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.881C>G; p.P294R; 5:177504593-177504593

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.72G>A; p.T24T; 5:177509637-177509637

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.728A>G; p.D243G; 5:177504828-177504828

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.632G>A; p.W211*; 5:177505019-177505019

 skinmalignant_melanomaSubstitution - Nonsense

c.1154G>A; p.C385Y; 5:177504320-177504320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1119C>T; p.P373P; 5:177504355-177504355

 skinmalignant_melanomaSubstitution - coding silent

c.1356G>C; p.Q452H; 5:177504118-177504118

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.695T>G; p.L232R; 5:177504861-177504861

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1473C>T; p.A491A; 5:177504001-177504001

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1036G>A; p.G346R; 5:177504438-177504438

 NSmalignant_melanomaSubstitution - Missense

c.608A>C; p.E203A; 5:177505043-177505043

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.862C>T; p.L288F; 5:177504612-177504612

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1165A>G; p.S389G; 5:177504309-177504309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1457G>A; p.R486Q; 5:177504017-177504017

 pancreascarcinomaSubstitution - Missense

c.1275C>T; p.S425S; 5:177504199-177504199

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.212A>G; p.Q71R; 5:177509497-177509497

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.801C>T; p.F267F; 5:177504755-177504755

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.166A>G; p.T56A; 5:177509543-177509543

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200G>C; p.G67A; 5:177509509-177509509

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.386G>A; p.R129H; 5:177508391-177508391

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.800T>A; p.F267Y; 5:177504756-177504756

 breastcarcinomaSubstitution - Missense

c.1270C>T; p.R424C; 5:177504204-177504204

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.G149S; 5:177508332-177508332

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.648G>A; p.E216E; 5:177504908-177504908

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1037G>T; p.G346V; 5:177504437-177504437

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1085C>T; p.P362L; 5:177504389-177504389

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1085C>T; p.P362L; 5:177504389-177504389

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1226C>T; p.T409M; 5:177504248-177504248

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1309G>A; p.D437N; 5:177504165-177504165

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.163G>A; p.V55M; 5:177509546-177509546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673G>C; p.E225Q; 5:177504883-177504883

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1271G>A; p.R424H; 5:177504203-177504203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1271G>A; p.R424H; 5:177504203-177504203

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.547G>T; p.G183W; 5:177505104-177505104

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1053G>A; p.T351T; 5:177504421-177504421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.314G>A; p.R105Q; 5:177508463-177508463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1364G>A; p.R455Q; 5:177504110-177504110

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1078C>T; p.P360S; 5:177504396-177504396

 skinmalignant_melanomaSubstitution - Missense

c.436_437insC; p.R146fs*80; 5:177508340-177508341

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.758C>A; p.T253N; 5:177504798-177504798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.286G>A; p.V96M; 5:177508491-177508491

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.286G>A; p.V96M; 5:177508491-177508491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1347G>A; p.L449L; 5:177504127-177504127

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1444C>T; p.L482L; 5:177504030-177504030

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.115C>T; p.L39L; 5:177509594-177509594

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.816C>T; p.G272G; 5:177504658-177504658

 pancreascarcinomaSubstitution - coding silent

c.816C>T; p.G272G; 5:177504658-177504658

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.60A>G; p.L20L; 5:177509649-177509649

 thyroidother; neoplasmSubstitution - coding silent

c.793C>A; p.R265S; 5:177504763-177504763

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.793C>A; p.R265S; 5:177504763-177504763

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.838C>T; p.R280C; 5:177504636-177504636

 skinmalignant_melanomaSubstitution - Missense

c.56C>G; p.S19C; 5:177509653-177509653

 breastcarcinomaSubstitution - Missense

c.735C>T; p.I245I; 5:177504821-177504821

 skinmalignant_melanomaSubstitution - coding silent

c.120A>G; p.S40S; 5:177509589-177509589

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.642G>A; p.V214V; 5:177504914-177504914

 skinmalignant_melanomaSubstitution - coding silent

c.1360C>T; p.R454W; 5:177504114-177504114

 skinmalignant_melanomaSubstitution - Missense

c.895C>G; p.L299V; 5:177504579-177504579

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>C; p.E348Q; 5:177504432-177504432

 breastcarcinomaSubstitution - Missense

c.981G>T; p.R327R; 5:177504493-177504493

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.851C>T; p.S284L; 5:177504623-177504623

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.807C>T; p.S269S; 5:177504749-177504749

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1114G>A; p.E372K; 5:177504360-177504360

 skinmalignant_melanomaSubstitution - Missense

c.998C>T; p.S333F; 5:177504476-177504476

 skinmalignant_melanomaSubstitution - Missense

c.31G>T; p.A11S; 5:177509822-177509822

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.996C>T; p.P332P; 5:177504478-177504478

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1369C>T; p.L457L; 5:177504105-177504105

 skinmalignant_melanomaSubstitution - coding silent

c.275G>A; p.G92D; 5:177508502-177508502

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1012G>A; p.G338R; 5:177504462-177504462

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.786C>A; p.H262Q; 5:177504770-177504770

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.162C>T; p.A54A; 5:177509547-177509547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.31G>A; p.A11T; 5:177509822-177509822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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