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

Basic Information

Gene ID

26038

Name

CHD5

Synonymous

chromodomain helicase DNA binding protein 5;CHD5;chromodomain helicase DNA binding protein 5

Definition

ATP-dependent helicase CHD5|chromodomain-helicase-DNA-binding protein 5

Position

1p36.31

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.355G>A; p.D119N; 1:6159368-6159368

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1972A>G; p.R658G; 1:6143894-6143894

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.5109C>T; p.F1703F; 1:6112171-6112171

 skin; armmalignant_melanomaSubstitution - coding silent

c.3969_3970insAT; p.L1324fs*78; 1:6126680-6126681

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.3499A>G; p.M1167V; 1:6128958-6128958

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.133G>A; p.V45M; 1:6168224-6168224

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.5622C>T; p.D1874D; 1:6106736-6106736

 pancreasNSSubstitution - coding silent

c.898G>C; p.D300H; 1:6151128-6151128

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1391_1392insC; p.L465fs*28; 1:6146863-6146864

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.3917G>T; p.R1306L; 1:6126733-6126733

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3917G>T; p.R1306L; 1:6126733-6126733

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.5199C>T; p.Y1733Y; 1:6111825-6111825

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3772G>C; p.D1258H; 1:6128177-6128177

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.108C>T; p.F36F; 1:6168249-6168249

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1999A>G; p.R667G; 1:6143867-6143867

 breastcarcinoma; ductolobular_carcinomaSubstitution - Missense

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