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

Basic Information

Gene ID

56954

Name

NIT2

Synonymous

nitrilase family, member 2;NIT2;nitrilase family, member 2

Definition

Nit protein 2|epididymis secretory sperm binding protein Li 8a|nitrilase homolog 2|omega-amidase NIT2

Position

3q12.2

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 0.17.

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.630G>A; p.R210R; 3:100352449-100352449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.156A>G; p.K52K; 3:100339844-100339844

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.156A>G; p.K52K; 3:100339844-100339844

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.724G>A; p.V242M; 3:100354812-100354812

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.58A>G; p.N20D; 3:100339137-100339137

 breastcarcinomaSubstitution - Missense

c.430C>T; p.P144S; 3:100345678-100345678

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.106G>A; p.A36T; 3:100339185-100339185

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.686G>A; p.G229E; 3:100354774-100354774

 skinmalignant_melanomaSubstitution - Missense

c.256C>T; p.P86S; 3:100341081-100341081

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503G>A; p.R168K; 3:100346253-100346253

 skinmalignant_melanomaSubstitution - Missense

c.44C>A; p.S15Y; 3:100339123-100339123

 skinmalignant_melanomaSubstitution - Missense

c.652G>T; p.A218S; 3:100352471-100352471

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.620C>T; p.S207F; 3:100352439-100352439

 skinmalignant_melanomaSubstitution - Missense

c.119C>A; p.S40Y; 3:100339198-100339198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549T>C; p.T183T; 3:100348846-100348846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.70G>A; p.A24T; 3:100339149-100339149

 skinmalignant_melanomaSubstitution - Missense

c.511C>A; p.Q171K; 3:100348808-100348808

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249C>T; p.G83G; 3:100341074-100341074

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.522A>C; p.V174V; 3:100348819-100348819

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.585-1G>A; p.?; 3:100352403-100352403

 stomachcarcinoma; adenocarcinomaUnknown

c.271G>T; p.G91W; 3:100341096-100341096

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.661C>T; p.H221Y; 3:100352480-100352480

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.828C>T; p.P276P; 3:100355265-100355265

 pancreascarcinomaSubstitution - coding silent

c.248G>T; p.G83V; 3:100341073-100341073

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.682T>A; p.W228R; 3:100352501-100352501

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247+9C>T; p.?; 3:100339944-100339944

 breastcarcinomaUnknown

c.224A>C; p.E75A; 3:100339912-100339912

 kidneyother; neoplasmSubstitution - Missense

c.337-2A>G; p.?; 3:100345583-100345583

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.199C>T; p.Q67*; 3:100339887-100339887

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.428C>T; p.T143I; 3:100345676-100345676

 prostatecarcinomaSubstitution - Missense

c.508T>C; p.C170R; 3:100348805-100348805

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328T>A; p.Y110N; 3:100341153-100341153

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.126+2T>G; p.?; 3:100339207-100339207

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.763C>T; p.R255C; 3:100355200-100355200

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.153G>A; p.A51A; 3:100339841-100339841

 breastcarcinomaSubstitution - coding silent

c.830A>G; p.*277*; 3:100355267-100355267

 prostatecarcinomaSubstitution - coding silent

c.126G>T; p.P42P; 3:100339205-100339205

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.382G>T; p.E128*; 3:100345630-100345630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.382G>T; p.E128*; 3:100345630-100345630

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.629G>T; p.R210L; 3:100352448-100352448

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.R157Q; 3:100346220-100346220

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.R157Q; 3:100346220-100346220

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.806A>T; p.Y269F; 3:100355243-100355243

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.248_249GC>TT; p.G83>?; 3:100341073-100341074

 kidneycarcinoma; clear_cell_renal_cell_carcinomaComplex

c.797C>G; p.S266*; 3:100355234-100355234

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.764G>A; p.R255H; 3:100355201-100355201

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7+1delG; p.?; 3:100334799-100334799

 oesophaguscarcinoma; adenocarcinomaUnknown

c.498A>C; p.A166A; 3:100346248-100346248

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.697G>A; p.A233T; 3:100354785-100354785

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107C>T; p.A36V; 3:100339186-100339186

 breastcarcinomaSubstitution - Missense

c.67C>T; p.R23C; 3:100339146-100339146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.402G>A; p.P134P; 3:100345650-100345650

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.178_186delAAAATTCCT; p.K60_P62delKIP; 3:100339866-100339874

 livercarcinoma; hepatocellular_carcinomaDeletion - In frame

c.13C>T; p.R5C; 3:100339092-100339092

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.670G>A; p.V224M; 3:100352489-100352489

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.13C>T; p.R5C; 3:100339092-100339092

 central_nervous_system; braingliomaSubstitution - Missense

c.716A>C; p.E239A; 3:100354804-100354804

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.382G>A; p.E128K; 3:100345630-100345630

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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