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

Basic Information

Gene ID

4830

Name

NME1

Synonymous

NME/NM23 nucleoside diphosphate kinase 1;NME1;NME/NM23 nucleoside diphosphate kinase 1

Definition

NDP kinase A|granzyme A-activated DNase|metastasis inhibition factor nm23|non-metastatic cells 1, protein (NM23A) expressed in|nucleoside diphosphate kinase A|tumor metastatic process-associated protein

Position

17q21.3

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 0.14.

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.34C>T; p.Q12*; 17:51154407-51154407

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.332C>T; p.T111M; 17:51161188-51161188

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.286G>T; p.G96W; 17:51160064-51160064

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.166A>G; p.K56E; 17:51155745-51155745

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.E163K; 17:51161798-51161798

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.468C>T; p.G156G; 17:51161779-51161779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.92G>A; p.R31H; 17:51155671-51155671

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.240G>C; p.L80L; 17:51160018-51160018

 kidneyother; neoplasmSubstitution - coding silent

c.189G>C; p.L63L; 17:51155768-51155768

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.209A>C; p.E70A; 17:51159987-51159987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.391G>T; p.G131*; 17:51161247-51161247

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.532T>C; p.*178R; 17:51161843-51161843

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.123C>T; p.V41V; 17:51155702-51155702

 skinmalignant_melanomaSubstitution - coding silent

c.248G>A; p.R83H; 17:51160026-51160026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.30C>T; p.V10V; 17:51154403-51154403

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.27C>T; p.I9I; 17:51154400-51154400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.453A>G; p.A151A; 17:51161764-51161764

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.208G>A; p.E70K; 17:51159986-51159986

 skinmalignant_melanomaSubstitution - Missense

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