Home > Gene Browser > DDX41

DDX41

Synonyms
ABS, MPLPF
External resources
Summary
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
1
VUS
1,211
Likely benign
3,088
Benign
30

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on DDX41 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.8%
Abnormality of the cardiovascular system
29.2%
Abnormality of the musculoskeletal system
29.2%
Abnormality of the eye
25%
Abnormality of head or neck
20.8%
Growth abnormality
20.8%
Abnormality of the ear
16.7%
Abnormality of limbs
12.5%
Abnormality of the digestive system
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the integument
8.3%
Abnormality of the genitourinary system
4.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune 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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