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RP9

Chr 7p14.3

RP9 pre-mRNA splicing factor

Aliases:
PAP-1
MANE:
ENST00000297157.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Glaucoma (developmental)

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.66
  • retinitis pigmentosa 9

    0.58
  • Abnormality of the skeletal system

    0.44
  • autosomal dominant retinitis pigmentosa

    0.38
  • eye disorder

    0.37
  • neurodegenerative disease

    0.31
  • Retinal dystrophy

    0.18
  • optic atrophy

    0.11
  • obesity disorder

    0.08
  • leprosy

    0.07

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

Protein function (UniProt)

Retinitis pigmentosa 9 protein

Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity)

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.