RPL17-C18ORF32

Chr 18

RPL17-C18orf32 readthrough

Also known as: PD-1

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]

0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.50
LOEUF
Mechanism
Clinical SummaryRPL17-C18ORF32
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.58) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.50LOEUF
pLI 0.575
Z-score 2.95
OE 0.19 (0.090.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.12Z-score
OE missense 0.73 (0.620.86)
98 obs / 134.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.090.50)
00.351.4
Missense OE0.73 (0.620.86)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 3 / 15.6Missense obs/exp: 98 / 134.7Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RPL17-C18ORF32 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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