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

Basic Information

Gene ID

10641

Name

NPRL2

Synonymous

nitrogen permease regulator-like 2 (S. cerevisiae);NPRL2;nitrogen permease regulator-like 2 (S. cerevisiae)

Definition

2810446G01Rik|G21 protein|NPR2-like protein|gene 21 protein|homologous to yeast nitrogen permease (candidate tumor suppressor)|nitrogen permease regulator 2-like protein|tumor suppressor candidate 4

Position

3p21.3

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

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.19.

The copy number variations for various cancers

Top

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.868C>A; p.P290T; 3:50348188-50348188

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.R78C; 3:50349772-50349772

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.232C>T; p.R78C; 3:50349772-50349772

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.545A>T; p.E182V; 3:50348914-50348914

 prostatecarcinomaSubstitution - Missense

c.737G>A; p.C246Y; 3:50348394-50348394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.899G>A; p.R300H; 3:50348157-50348157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1057G>A; p.E353K; 3:50347777-50347777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.969C>T; p.I323I; 3:50347865-50347865

 skinmalignant_melanomaSubstitution - coding silent

c.883C>T; p.R295*; 3:50348173-50348173

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.883C>T; p.R295*; 3:50348173-50348173

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.295G>T; p.E99*; 3:50349709-50349709

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.376C>T; p.Q126*; 3:50349458-50349458

 ovaryother; neoplasmSubstitution - Nonsense

c.854A>G; p.Y285C; 3:50348202-50348202

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.987T>A; p.Y329*; 3:50347847-50347847

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.743C>G; p.T248R; 3:50348388-50348388

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.836G>T; p.R279L; 3:50348220-50348220

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.116_117delCA; p.T39fs*51; 3:50349984-50349985

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.93C>T; p.F31F; 3:50350008-50350008

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.93C>T; p.F31F; 3:50350008-50350008

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.518A>T; p.D173V; 3:50348941-50348941

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.481G>C; p.E161Q; 3:50348978-50348978

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.609C>A; p.F203L; 3:50348759-50348759

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.83C>T; p.P28L; 3:50350018-50350018

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.847C>T; p.Q283*; 3:50348209-50348209

 skinmalignant_melanomaSubstitution - Nonsense

c.907delC; p.Q303fs*11; 3:50348149-50348149

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.641_643delATG; p.D214delD; 3:50348725-50348727

 breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - In frame

c.737G>T; p.C246F; 3:50348394-50348394

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.323A>C; p.Y108S; 3:50349681-50349681

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.476T>G; p.V159G; 3:50348983-50348983

 breastcarcinomaSubstitution - Missense

c.170+5G>T; p.?; 3:50349926-50349926

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.324T>C; p.Y108Y; 3:50349680-50349680

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.324T>C; p.Y108Y; 3:50349680-50349680

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.324T>C; p.Y108Y; 3:50349680-50349680

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.323A>T; p.Y108F; 3:50349681-50349681

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.673C>T; p.Q225*; 3:50348695-50348695

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.352T>G; p.F118V; 3:50349482-50349482

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.352T>G; p.F118V; 3:50349482-50349482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.378G>A; p.Q126Q; 3:50349456-50349456

 pancreascarcinomaSubstitution - coding silent

c.364G>A; p.E122K; 3:50349470-50349470

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.354C>T; p.F118F; 3:50349480-50349480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.214G>A; p.E72K; 3:50349790-50349790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.931C>T; p.R311W; 3:50348125-50348125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.931C>T; p.R311W; 3:50348125-50348125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.267_268delTG; p.C89fs*1; 3:50349736-50349737

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.948C>T; p.F316F; 3:50347886-50347886

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.562C>T; p.Q188*; 3:50348897-50348897

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.355G>A; p.V119M; 3:50349479-50349479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1102C>T; p.R368W; 3:50347647-50347647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.684-3_684-2insTC; p.?; 3:50348565-50348566

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.684-3_684-2insTC; p.?; 3:50348565-50348566

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.448+1G>C; p.?; 3:50349385-50349385

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.710C>G; p.S237C; 3:50348537-50348537

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.518A>C; p.D173A; 3:50348941-50348941

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.807C>T; p.T269T; 3:50348324-50348324

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.595T>A; p.Y199N; 3:50348773-50348773

 pancreascarcinomaSubstitution - Missense

c.807C>T; p.T269T; 3:50348324-50348324

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.451G>A; p.E151K; 3:50349008-50349008

 thyroidcarcinomaSubstitution - Missense

')