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

Basic Information

Gene ID

10653

Name

SPINT2

Synonymous

serine peptidase inhibitor, Kunitz type, 2;SPINT2;serine peptidase inhibitor, Kunitz type, 2

Definition

hepatocyte growth factor activator inhibitor type 2|kunitz-type protease inhibitor 2|placental bikunin|serine protease inhibitor, Kunitz type, 2

Position

19q13.1

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.481T>C; p.F161L; 19:38290208-38290208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.714C>T; p.S238S; 19:38291961-38291961

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.615C>T; p.F205F; 19:38291862-38291862

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.215A>G; p.D72G; 19:38283735-38283735

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.205G>A; p.G69R; 19:38283725-38283725

 skinmalignant_melanomaSubstitution - Missense

c.143G>A; p.R48Q; 19:38283663-38283663

 skinmalignant_melanomaSubstitution - Missense

c.373G>A; p.D125N; 19:38289173-38289173

 skinmalignant_melanomaSubstitution - Missense

c.373G>A; p.D125N; 19:38289173-38289173

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.373G>A; p.D125N; 19:38289173-38289173

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.F184F; 19:38290279-38290279

 skinmalignant_melanomaSubstitution - coding silent

c.580C>T; p.L194F; 19:38290563-38290563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.665G>T; p.R222L; 19:38291912-38291912

 pancreascarcinomaSubstitution - Missense

c.442C>T; p.R148C; 19:38290169-38290169

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.142C>T; p.R48W; 19:38283662-38283662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457G>A; p.V153M; 19:38290184-38290184

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.568C>T; p.P190S; 19:38290551-38290551

 skin; neckmalignant_melanomaSubstitution - Missense

c.385T>G; p.Y129D; 19:38289185-38289185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.309G>T; p.R103S; 19:38287907-38287907

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553C>T; p.R185C; 19:38290280-38290280

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>T; p.T80T; 19:38283760-38283760

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.521G>A; p.R174H; 19:38290248-38290248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317C>T; p.A106V; 19:38287915-38287915

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.598G>C; p.V200L; 19:38291845-38291845

 thyroidother; neoplasmSubstitution - Missense

c.598G>C; p.V200L; 19:38291845-38291845

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.583G>T; p.G195C; 19:38290566-38290566

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.653T>C; p.V218A; 19:38291900-38291900

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.653T>C; p.V218A; 19:38291900-38291900

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.173T>C; p.V58A; 19:38283693-38283693

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.23G>A; p.R8K; 19:38264915-38264915

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.351G>A; p.Q117Q; 19:38289151-38289151

 skinmalignant_melanomaSubstitution - coding silent

c.144G>T; p.R48R; 19:38283664-38283664

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.510G>T; p.K170N; 19:38290237-38290237

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.673C>T; p.R225W; 19:38291920-38291920

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.316G>T; p.A106S; 19:38287914-38287914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.318G>A; p.A106A; 19:38287916-38287916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.443G>A; p.R148H; 19:38290170-38290170

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645C>T; p.A215A; 19:38291892-38291892

 skinmalignant_melanomaSubstitution - coding silent

c.553+1delG; p.?; 19:38290281-38290281

 large_intestine; rectumNSUnknown

c.379T>C; p.F127L; 19:38289179-38289179

 skinmalignant_melanomaSubstitution - Missense

c.379T>C; p.F127L; 19:38289179-38289179

 skinmalignant_melanomaSubstitution - Missense

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