RPL17-C18ORF32

Chr 18

RPL17-C18orf32 readthrough

Also known as: PD-1

This gene encodes read-through transcript isoforms that share sequence identity with ribosomal protein L17 but contain frameshifted C-terminal regions from the downstream C18orf32 gene. The gene shows high constraint against loss-of-function variants (LOEUF 0.497), suggesting intolerance to protein-truncating mutations. No specific diseases have been definitively associated with mutations in this read-through transcript gene.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.50

LOEUF

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Mechanism

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