DDX17

Chr 22

DEAD-box helicase 17

Also known as: P72, RH70

NCBI Gene: 10521 ENSG00000100201 UniProt: Q92841

The DDX17 protein is an RNA helicase that unwinds RNA structures and regulates pre-mRNA splicing, microRNA processing, ribosomal RNA processing, and transcriptional activation of various genes involved in development and hormone signaling. Mutations in DDX17 cause autosomal dominant intellectual disability with distinctive facial features and developmental delays. This gene is extremely intolerant to loss-of-function variants (pLI 1.0, LOEUF 0.126), indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

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 splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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