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

Basic Information

Gene ID

1796

Name

DOK1

Synonymous

docking protein 1, 62kDa (downstream of tyrosine kinase 1);DOK1;docking protein 1, 62kDa (downstream of tyrosine kinase 1)

Definition

Downstream of tyrosine kinase 1|docking protein 1|docking protein 1 (downstream of tyrosine kinase 1)|p62(dok)|pp62

Position

2p13

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

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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.1400G>A; p.R467K; 2:74557068-74557068

skinmalignant_melanomaSubstitution - Missense

c.949G>A; p.D317N; 2:74556617-74556617

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.929C>T; p.S310F; 2:74556597-74556597

breastcarcinomaSubstitution - Missense

c.894G>A; p.E298E; 2:74556562-74556562

livercarcinomaSubstitution - coding silent

c.597G>A; p.L199L; 2:74556036-74556036

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.43C>A; p.Q15K; 2:74554797-74554797

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1244G>A; p.R415Q; 2:74556912-74556912

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1412A>G; p.D471G; 2:74557080-74557080

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.622C>T; p.R208C; 2:74556061-74556061

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.651T>A; p.S217S; 2:74556319-74556319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.94G>A; p.A32T; 2:74555187-74555187

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.L126L; 2:74555590-74555590

oesophaguscarcinomaSubstitution - coding silent

c.797G>C; p.R266T; 2:74556465-74556465

breastcarcinomaSubstitution - Missense

c.1419_1420delTG; p.V475fs*>7; 2:74557087-74557088

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1176G>T; p.R392R; 2:74556844-74556844

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.29delT; p.L12fs*26; 2:74554783-74554783

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.29delT; p.L12fs*26; 2:74554783-74554783

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.138G>T; p.K46N; 2:74555231-74555231

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.Q15*; 2:74554797-74554797

breastcarcinomaSubstitution - Nonsense

c.570C>T; p.A190A; 2:74556009-74556009

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.562G>T; p.V188L; 2:74556001-74556001

livercarcinomaSubstitution - Missense

c.562G>T; p.V188L; 2:74556001-74556001

livercarcinomaSubstitution - Missense

c.851G>A; p.G284D; 2:74556519-74556519

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.239delC; p.P82fs*76; 2:74555332-74555332

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.256G>T; p.A86S; 2:74555349-74555349

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.786C>T; p.H262H; 2:74556454-74556454

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1031C>T; p.A344V; 2:74556699-74556699

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1412A>C; p.D471A; 2:74557080-74557080

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632G>A; p.R211Q; 2:74556071-74556071

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1125C>T; p.G375G; 2:74556793-74556793

breastcarcinomaSubstitution - coding silent

c.172C>T; p.R58C; 2:74555265-74555265

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.380C>T; p.A127V; 2:74555594-74555594

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1384G>A; p.D462N; 2:74557052-74557052

thyroidcarcinomaSubstitution - Missense

c.1229C>A; p.A410D; 2:74556897-74556897

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.325G>T; p.A109S; 2:74555418-74555418

soft_tissue; striated_musclerhabdomyosarcoma; alveolarSubstitution - Missense

c.78G>T; p.W26C; 2:74555171-74555171

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.526C>G; p.L176V; 2:74555965-74555965

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1094C>A; p.P365H; 2:74556762-74556762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1390G>A; p.G464R; 2:74557058-74557058

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1390G>A; p.G464R; 2:74557058-74557058

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.36G>A; p.L12L; 2:74554790-74554790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1330C>G; p.H444D; 2:74556998-74556998

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1118C>T; p.P373L; 2:74556786-74556786

skinmalignant_melanomaSubstitution - Missense

c.896_897CC>TT; p.P299L; 2:74556564-74556565

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.905C>T; p.S302F; 2:74556573-74556573

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1243C>T; p.R415W; 2:74556911-74556911

ovaryother; neoplasmSubstitution - Missense

c.426G>T; p.E142D; 2:74555640-74555640

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1177G>T; p.V393L; 2:74556845-74556845

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.620G>A; p.R207H; 2:74556059-74556059

prostatecarcinomaSubstitution - Missense

c.238_239insC; p.E83fs*1; 2:74555331-74555332

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.643A>G; p.M215V; 2:74556311-74556311

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.354C>T; p.A118A; 2:74555447-74555447

skinmalignant_melanomaSubstitution - coding silent

c.678A>G; p.S226S; 2:74556346-74556346

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1255C>T; p.P419S; 2:74556923-74556923

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1379G>T; p.S460I; 2:74557047-74557047

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.555C>G; p.L185L; 2:74555994-74555994

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.493G>A; p.A165T; 2:74555932-74555932

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.971C>G; p.A324G; 2:74556639-74556639

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.906C>T; p.S302S; 2:74556574-74556574

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1200C>T; p.L400L; 2:74556868-74556868

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1240C>T; p.P414S; 2:74556908-74556908

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.776G>A; p.G259E; 2:74556444-74556444

skin; neckmalignant_melanomaSubstitution - Missense

c.1065C>T; p.D355D; 2:74556733-74556733

skinmalignant_melanomaSubstitution - coding silent

c.1000A>C; p.K334Q; 2:74556668-74556668

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>T; p.G375V; 2:74556792-74556792

livercarcinomaSubstitution - Missense

c.845C>T; p.P282L; 2:74556513-74556513

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1104G>T; p.L368L; 2:74556772-74556772

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.28_29insT; p.L12fs*33; 2:74554782-74554783

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1445G>A; p.*482*; 2:74557113-74557113

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.947C>G; p.S316*; 2:74556615-74556615

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense


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