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

Basic Information

Gene ID

200504

Name

GKN2

Synonymous

gastrokine 2;GKN2;gastrokine 2

Definition

BRICHOS domain containing 1B|blottin|down regulated in gastric cancer GDDR|down-regulated in gastric cancer GDDR|gastrokine-2|trefoil factor interactions(z) 1

Position

2p13.3

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 0.07.

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.232C>T; p.R78*; 2:68947230-68947230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.338G>A; p.S113N; 2:68946438-68946438

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.338G>A; p.S113N; 2:68946438-68946438

 thyroidother; neoplasmSubstitution - Missense

c.338G>A; p.S113N; 2:68946438-68946438

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.406G>T; p.G136W; 2:68946370-68946370

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.279delT; p.L94fs*1; 2:68947183-68947183

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.155A>C; p.N52T; 2:68950175-68950175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.155A>C; p.N52T; 2:68950175-68950175

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.218C>A; p.S73Y; 2:68947244-68947244

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.140A>G; p.N47S; 2:68950190-68950190

 livercarcinomaSubstitution - Missense

c.29T>C; p.V10A; 2:68950739-68950739

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.385G>A; p.D129N; 2:68946391-68946391

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.345C>T; p.Y115Y; 2:68946431-68946431

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.277_278CC>TT; p.P93F; 2:68947184-68947185

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.206G>A; p.G69D; 2:68947256-68947256

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.439C>T; p.P147S; 2:68946337-68946337

 skinmalignant_melanomaSubstitution - Missense

c.538G>A; p.A180T; 2:68945385-68945385

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.317C>T; p.A106V; 2:68946459-68946459

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.317C>T; p.A106V; 2:68946459-68946459

 kidneyother; neoplasmSubstitution - Missense

c.280C>T; p.L94L; 2:68947182-68947182

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.280C>T; p.L94L; 2:68947182-68947182

 skinmalignant_melanomaSubstitution - coding silent

c.149T>G; p.I50S; 2:68950181-68950181

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552T>C; p.V184V; 2:68945371-68945371

 skinmalignant_melanomaSubstitution - coding silent

c.445T>C; p.Y149H; 2:68946331-68946331

 livercarcinomaSubstitution - Missense

c.445T>C; p.Y149H; 2:68946331-68946331

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.449A>C; p.K150T; 2:68946327-68946327

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.263A>G; p.H88R; 2:68947199-68947199

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.230C>T; p.S77F; 2:68947232-68947232

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.350G>A; p.W117*; 2:68946426-68946426

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.139_140delAA; p.N47fs*5; 2:68950190-68950191

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.139_140delAA; p.N47fs*5; 2:68950190-68950191

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.421A>C; p.K141Q; 2:68946355-68946355

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.28G>A; p.V10M; 2:68950740-68950740

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.472C>G; p.H158D; 2:68946304-68946304

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.438C>T; p.I146I; 2:68946338-68946338

 skinmalignant_melanomaSubstitution - coding silent

c.387C>A; p.D129E; 2:68946389-68946389

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.391G>A; p.D131N; 2:68946385-68946385

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.358T>G; p.Y120D; 2:68946418-68946418

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.236G>A; p.R79K; 2:68947226-68947226

 skinmalignant_melanomaSubstitution - Missense

c.22C>A; p.L8M; 2:68950746-68950746

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.305A>G; p.Y102C; 2:68947157-68947157

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.V160V; 2:68945443-68945443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.179C>G; p.S60C; 2:68950151-68950151

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.463G>A; p.E155K; 2:68946313-68946313

 skinmalignant_melanomaSubstitution - Missense

c.374C>A; p.S125Y; 2:68946402-68946402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.378G>C; p.L126L; 2:68946398-68946398

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.451G>T; p.G151W; 2:68946325-68946325

 skinmalignant_melanomaSubstitution - Missense

c.97G>T; p.G33C; 2:68950233-68950233

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.259G>C; p.D87H; 2:68947203-68947203

 breastcarcinomaSubstitution - Missense

c.435T>C; p.H145H; 2:68946341-68946341

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.435T>C; p.H145H; 2:68946341-68946341

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.367C>A; p.L123M; 2:68946409-68946409

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.385G>T; p.D129Y; 2:68946391-68946391

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249C>G; p.I83M; 2:68947213-68947213

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.249C>G; p.I83M; 2:68947213-68947213

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.249C>G; p.I83M; 2:68947213-68947213

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.122C>T; p.T41I; 2:68950208-68950208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205-1G>A; p.?; 2:68947258-68947258

 stomachcarcinoma; adenocarcinomaUnknown

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