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

Basic Information

Gene ID

26471

Name

NUPR1

Synonymous

nuclear protein, transcriptional regulator, 1;NUPR1;nuclear protein, transcriptional regulator, 1

Definition

candidate of metastasis 1|nuclear protein 1|protein p8

Position

16p11.2

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

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 0.20.

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.132T>G; p.G44G; 16:28538136-28538136

 breastcarcinomaSubstitution - coding silent

c.244C>T; p.R82C; 16:28538024-28538024

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.249A>G; p.*83W; 16:28538019-28538019

 livercarcinomaNonstop extension

c.249A>G; p.*83W; 16:28538019-28538019

 livercarcinomaNonstop extension

c.133C>G; p.R45G; 16:28538135-28538135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.67A>C; p.S23R; 16:28538841-28538841

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.43C>A; p.P15T; 16:28538865-28538865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.44delC; p.P15fs*53; 16:28538864-28538864

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.218C>G; p.S73*; 16:28538050-28538050

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.167G>A; p.R56H; 16:28538101-28538101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.E18K; 16:28538856-28538856

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.52G>A; p.E18K; 16:28538856-28538856

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.187G>A; p.E63K; 16:28538081-28538081

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.9C>G; p.T3T; 16:28538899-28538899

 lungcarcinoid-endocrine_tumour; typicalSubstitution - coding silent

c.154G>A; p.A52T; 16:28538114-28538114

 breastcarcinomaSubstitution - Missense

')