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

Basic Information

Gene ID

56287

Name

GKN1

Synonymous

gastrokine 1;GKN1;gastrokine 1

Definition

18 kDa antrum mucosa protein|AMP-18|BRICHOS domain containing 1|gastrokine-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 0.00.

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.354G>T; p.K118N; 2:68978978-68978978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.542C>T; p.T181M; 2:68980765-68980765

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.182A>C; p.N61T; 2:68977710-68977710

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.426C>T; p.V142V; 2:68979981-68979981

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.255_256insA; p.A86fs*27; 2:68978879-68978880

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.567C>T; p.D189D; 2:68980790-68980790

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.533C>A; p.T178K; 2:68980756-68980756

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.267C>T; p.L89L; 2:68978891-68978891

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.483A>G; p.T161T; 2:68980038-68980038

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.248G>A; p.G83D; 2:68978872-68978872

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.31C>T; p.R11C; 2:68974666-68974666

 skinmalignant_melanomaSubstitution - Missense

c.31C>T; p.R11C; 2:68974666-68974666

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.438C>A; p.S146R; 2:68979993-68979993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.57T>C; p.I19I; 2:68977497-68977497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.289G>A; p.V97M; 2:68978913-68978913

 breastcarcinomaSubstitution - Missense

c.438C>T; p.S146S; 2:68979993-68979993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.110A>G; p.N37S; 2:68977638-68977638

 skinmalignant_melanomaSubstitution - Missense

c.99A>T; p.L33L; 2:68977539-68977539

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.427G>T; p.D143Y; 2:68979982-68979982

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.533C>T; p.T178M; 2:68980756-68980756

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.353A>C; p.K118T; 2:68978977-68978977

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.517_518insT; p.Y175fs*>26; 2:68980740-68980741

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.227C>T; p.S76F; 2:68977755-68977755

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.353A>G; p.K118R; 2:68978977-68978977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.592G>A; p.E198K; 2:68980815-68980815

 skinmalignant_melanomaSubstitution - Missense

c.388C>T; p.P130S; 2:68979943-68979943

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.352A>G; p.K118E; 2:68978976-68978976

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.352A>G; p.K118E; 2:68978976-68978976

 large_intestine; rectumNSSubstitution - Missense

c.310G>T; p.V104F; 2:68978934-68978934

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.384A>G; p.P128P; 2:68979939-68979939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.452A>T; p.N151I; 2:68980007-68980007

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.445G>A; p.G149R; 2:68980000-68980000

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.258A>G; p.A86A; 2:68978882-68978882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.455T>C; p.I152T; 2:68980010-68980010

 pancreascarcinomaSubstitution - Missense

c.332T>A; p.L111H; 2:68978956-68978956

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.177A>G; p.E59E; 2:68977705-68977705

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.41A>G; p.K14R; 2:68974676-68974676

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.465G>A; p.M155I; 2:68980020-68980020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.L172L; 2:68980737-68980737

 skinmalignant_melanomaSubstitution - coding silent

c.116A>T; p.N39I; 2:68977644-68977644

 skinmalignant_melanomaSubstitution - Missense

c.238T>A; p.Y80N; 2:68977766-68977766

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.130A>G; p.N44D; 2:68977658-68977658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.213G>A; p.W71*; 2:68977741-68977741

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.434T>A; p.L145Q; 2:68979989-68979989

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.434T>A; p.L145Q; 2:68979989-68979989

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.427G>A; p.D143N; 2:68979982-68979982

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.444C>T; p.F148F; 2:68979999-68979999

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.444C>T; p.F148F; 2:68979999-68979999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.392A>G; p.K131R; 2:68979947-68979947

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.469C>A; p.R157S; 2:68980024-68980024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.446G>A; p.G149E; 2:68980001-68980001

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446G>A; p.G149E; 2:68980001-68980001

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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