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

Basic Information

Gene ID

55748

Name

CNDP2

Synonymous

CNDP dipeptidase 2 (metallopeptidase M20 family);CNDP2;CNDP dipeptidase 2 (metallopeptidase M20 family)

Definition

cytosolic non-specific dipeptidase|cytosolic nonspecific dipeptidase|epididymis secretory protein Li 13|glutamate carboxypeptidase-like protein 1|peptidase A

Position

18q22.3

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 0.09.

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.280G>A; p.V94M; 18:74505924-74505924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1233G>C; p.L411F; 18:74518971-74518971

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.791A>G; p.E264G; 18:74513607-74513607

 livercarcinomaSubstitution - Missense

c.1332C>T; p.A444A; 18:74519070-74519070

 skinmalignant_melanomaSubstitution - coding silent

c.1210+8G>A; p.?; 18:74518648-74518648

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.840C>T; p.I280I; 18:74513656-74513656

 skinmalignant_melanomaSubstitution - coding silent

c.405delC; p.P136fs*6; 18:74508877-74508877

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.405delC; p.P136fs*6; 18:74508877-74508877

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.522C>T; p.D174D; 18:74510878-74510878

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.419G>T; p.W140L; 18:74508891-74508891

 skinmalignant_melanomaSubstitution - Missense

c.262G>A; p.D88N; 18:74505906-74505906

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195A>G; p.G65G; 18:74501463-74501463

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.834C>T; p.D278D; 18:74513650-74513650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.709C>A; p.H237N; 18:74512499-74512499

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.50G>A; p.R17H; 18:74500023-74500023

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.805G>A; p.V269I; 18:74513621-74513621

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.381G>A; p.G127G; 18:74508853-74508853

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.437C>T; p.A146V; 18:74508909-74508909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.51C>G; p.R17R; 18:74500024-74500024

 ovaryother; neoplasmSubstitution - coding silent

c.432G>A; p.L144L; 18:74508904-74508904

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1277A>G; p.E426G; 18:74519015-74519015

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.801C>T; p.A267A; 18:74513617-74513617

 pancreascarcinomaSubstitution - coding silent

c.380G>A; p.G127E; 18:74508852-74508852

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.E163K; 18:74510843-74510843

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.536C>T; p.A179V; 18:74510892-74510892

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.5C>T; p.A2V; 18:74499978-74499978

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.517C>T; p.L173L; 18:74510873-74510873

 skin; upper_backmalignant_melanomaSubstitution - coding silent

c.5C>T; p.A2V; 18:74499978-74499978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.355G>T; p.V119L; 18:74505999-74505999

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1137C>T; p.G379G; 18:74518567-74518567

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.774G>A; p.L258L; 18:74513590-74513590

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.651C>A; p.F217L; 18:74511007-74511007

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1220T>C; p.V407A; 18:74518958-74518958

 skinmalignant_melanomaSubstitution - Missense

c.164_165insG; p.S58fs*14; 18:74501432-74501433

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.760_761insG; p.N256fs*8; 18:74513576-74513577

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.835G>T; p.D279Y; 18:74513651-74513651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1309delG; p.V437fs*21; 18:74519047-74519047

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.570T>C; p.Y190Y; 18:74510926-74510926

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1001_1002GG>TT; p.R334I; 18:74516325-74516326

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1001_1002GG>TT; p.R334I; 18:74516325-74516326

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.668G>A; p.S223N; 18:74512458-74512458

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.964G>A; p.A322T; 18:74516288-74516288

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.214G>T; p.G72C; 18:74505858-74505858

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.118G>A; p.E40K; 18:74501386-74501386

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1345G>A; p.E449K; 18:74519083-74519083

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.227C>T; p.P76L; 18:74505871-74505871

 breastcarcinomaSubstitution - Missense

c.427G>A; p.A143T; 18:74508899-74508899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.493A>G; p.M165V; 18:74510849-74510849

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.231C>A; p.L77L; 18:74505875-74505875

 skinmalignant_melanomaSubstitution - coding silent

c.1318G>A; p.A440T; 18:74519056-74519056

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1012G>A; p.G338S; 18:74516336-74516336

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.696C>T; p.Y232Y; 18:74512486-74512486

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.958G>A; p.E320K; 18:74516282-74516282

 breastcarcinomaSubstitution - Missense

c.1294G>A; p.V432I; 18:74519032-74519032

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.409G>A; p.V137M; 18:74508881-74508881

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1317A>T; p.S439S; 18:74519055-74519055

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.20T>C; p.L7P; 18:74499993-74499993

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.777C>T; p.I259I; 18:74513593-74513593

 skinmalignant_melanomaSubstitution - coding silent

c.60+1G>A; p.?; 18:74500034-74500034

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.49C>T; p.R17C; 18:74500022-74500022

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1140C>T; p.H380H; 18:74518570-74518570

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.773T>C; p.L258P; 18:74513589-74513589

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1416G>T; p.Q472H; 18:74520056-74520056

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1394C>T; p.A465V; 18:74520034-74520034

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.231C>T; p.L77L; 18:74505875-74505875

 skinmalignant_melanomaSubstitution - coding silent

c.928C>T; p.R310W; 18:74516252-74516252

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.R310W; 18:74516252-74516252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.800C>T; p.A267V; 18:74513616-74513616

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.958G>T; p.E320*; 18:74516282-74516282

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.957C>T; p.I319I; 18:74516281-74516281

 skinmalignant_melanomaSubstitution - coding silent

c.928C>T; p.R310W; 18:74516252-74516252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.R310W; 18:74516252-74516252

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1235C>T; p.T412I; 18:74518973-74518973

 skinmalignant_melanomaSubstitution - Missense

c.1210+1G>T; p.?; 18:74518641-74518641

 livercarcinoma; hepatocellular_carcinomaUnknown

c.476G>A; p.R159Q; 18:74510832-74510832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.80C>T; p.A27V; 18:74501348-74501348

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338G>A; p.S113N; 18:74505982-74505982

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.205-7T>C; p.?; 18:74505842-74505842

 stomachadenocarcinomaUnknown

c.1167C>T; p.F389F; 18:74518597-74518597

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.222G>C; p.E74D; 18:74505866-74505866

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.195delA; p.K66fs*76; 18:74501463-74501463

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.922C>T; p.R308*; 18:74516246-74516246

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.613T>C; p.C205R; 18:74510969-74510969

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.103C>T; p.P35S; 18:74501371-74501371

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.G139S; 18:74508887-74508887

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1013G>A; p.G338D; 18:74516337-74516337

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.F184F; 18:74510908-74510908

 skinmalignant_melanomaSubstitution - coding silent

c.810G>T; p.T270T; 18:74513626-74513626

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>T; p.M165I; 18:74510851-74510851

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.774G>T; p.L258L; 18:74513590-74513590

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.935C>T; p.P312L; 18:74516259-74516259

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.105G>A; p.P35P; 18:74501373-74501373

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.105G>A; p.P35P; 18:74501373-74501373

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.659T>G; p.V220G; 18:74512449-74512449

 breastcarcinomaSubstitution - Missense

c.296A>G; p.H99R; 18:74505940-74505940

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.376T>C; p.Y126H; 18:74508848-74508848

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.655G>C; p.E219Q; 18:74511011-74511011

 breastcarcinomaSubstitution - Missense

c.896G>T; p.S299I; 18:74513712-74513712

 kidneyother; neoplasmSubstitution - Missense

c.692T>C; p.V231A; 18:74512482-74512482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.988A>G; p.T330A; 18:74516312-74516312

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1251T>C; p.S417S; 18:74518989-74518989

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.291C>T; p.Y97Y; 18:74505935-74505935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1025T>A; p.I342N; 18:74516349-74516349

 thyroidother; neoplasmSubstitution - Missense

c.1287C>A; p.G429G; 18:74519025-74519025

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1297A>G; p.M433V; 18:74519035-74519035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1124A>T; p.K375M; 18:74518554-74518554

 livercarcinomaSubstitution - Missense

c.1124A>T; p.K375M; 18:74518554-74518554

 livercarcinomaSubstitution - Missense

c.923G>A; p.R308Q; 18:74516247-74516247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1228G>C; p.D410H; 18:74518966-74518966

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.749T>A; p.L250*; 18:74513565-74513565

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.500A>G; p.E167G; 18:74510856-74510856

 livercarcinomaSubstitution - Missense

c.500A>G; p.E167G; 18:74510856-74510856

 livercarcinomaSubstitution - Missense

c.406C>T; p.P136S; 18:74508878-74508878

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.697G>A; p.G233R; 18:74512487-74512487

 salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.407C>T; p.P136L; 18:74508879-74508879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1285G>A; p.G429S; 18:74519023-74519023

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.227C>A; p.P76Q; 18:74505871-74505871

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.698G>A; p.G233E; 18:74512488-74512488

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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