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DHX38

Chr 16q22.2

DEAH-box helicase 38

Aliases:
Prp16, KIAA0224, hPrp16, PRPF16
MANE:
ENST00000268482.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.61
  • neurodegenerative disease

    0.50
  • retinitis pigmentosa 84

    0.45
  • Retinal dystrophy

    0.39
  • dengue disease

    0.37
  • coronary artery disorder

    0.33
  • hyperlipidemia

    0.29
  • autosomal recessive retinitis pigmentosa

    0.26
  • Hypercholesterolemia

    0.25
  • ovarian neoplasm

    0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.