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

Basic Information

Gene ID

51406

Name

NOL7

Synonymous

nucleolar protein 7, 27kDa;NOL7;nucleolar protein 7, 27kDa

Definition

nucleolar protein 7|nucleolar protein of 27 kDa|polyglutamine binding protein 3|retinoic acid repressible protein

Position

6p23

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 0.20.

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.761A>C; p.K254T; 6:13620814-13620814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313T>C; p.F105L; 6:13615758-13615758

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.313T>C; p.F105L; 6:13615758-13615758

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.716delA; p.N240fs*14; 6:13620769-13620769

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.245G>C; p.R82P; 6:13615603-13615603

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.527G>A; p.R176K; 6:13620234-13620234

 livercarcinomaSubstitution - Missense

c.527G>A; p.R176K; 6:13620234-13620234

 livercarcinomaSubstitution - Missense

c.333A>G; p.R111R; 6:13616468-13616468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.193G>A; p.E65K; 6:13615551-13615551

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.483A>C; p.Q161H; 6:13618122-13618122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.230G>A; p.R77K; 6:13615588-13615588

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.136G>T; p.A46S; 6:13615494-13615494

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.324G>T; p.Q108H; 6:13615769-13615769

 livercarcinomaSubstitution - Missense

c.324G>T; p.Q108H; 6:13615769-13615769

 livercarcinomaSubstitution - Missense

c.367A>G; p.T123A; 6:13616502-13616502

 skinmalignant_melanomaSubstitution - Missense

c.297G>A; p.K99K; 6:13615742-13615742

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.500+1G>A; p.?; 6:13618140-13618140

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.501-6C>T; p.?; 6:13620202-13620202

 breastcarcinomaUnknown

c.621T>G; p.T207T; 6:13620328-13620328

 breastcarcinomaSubstitution - coding silent

c.707delA; p.K238fs*16; 6:13620760-13620760

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.13C>G; p.R5G; 6:13615371-13615371

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.L214F; 6:13620425-13620425

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.152A>T; p.E51V; 6:13615510-13615510

 thyroidother; neoplasmSubstitution - Missense

c.332G>T; p.R111I; 6:13616467-13616467

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.706_707insA; p.Q239fs*7; 6:13620759-13620760

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.706_707insA; p.Q239fs*7; 6:13620759-13620760

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.706_707insA; p.Q239fs*7; 6:13620759-13620760

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.548G>A; p.R183K; 6:13620255-13620255

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.153A>C; p.E51D; 6:13615511-13615511

 thyroidother; neoplasmSubstitution - Missense

c.700+1G>A; p.?; 6:13620486-13620486

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.700+5G>C; p.?; 6:13620490-13620490

 breastcarcinoma; HER-positive_carcinomaUnknown

c.418+5G>C; p.?; 6:13617806-13617806

 lungcarcinoma; squamous_cell_carcinomaUnknown

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