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DHX8

Synonyms
DDX8, Dhr2, HRH1, PRP22, PRPF22
External resources
Summary
This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
40
Likely pathogenic
0
VUS
10,369
Likely benign
1,180
Benign
0

Patient phenotypes

Proportions of phenotypes among 40 patients carring pathogenic or likely pathogenic variants on DHX8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the musculoskeletal system
27.5%
Abnormality of the cardiovascular system
25%
Growth abnormality
15%
Abnormality of head or neck
12.5%
Abnormality of the eye
12.5%
Abnormality of the ear
10%
Abnormality of the immune system
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the digestive system
5%
Abnormality of the integument
5%
Abnormality of limbs
2.5%
Abnormality of prenatal development or birth
2.5%
Abnormality of the endocrine system
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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