PRPF8

Chr 17AD

pre-mRNA processing factor 8

Also known as: HPRP8, PRP8, PRPC8, RP13, SNRNP220

NCBI Gene: 10594ENSG00000174231UniProt: Q6P2Q9OMIM: 607300

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 13MIM #600059
AD

Clinical highlights

Gene-disease validity (ClinGen)
PRPF8-related retinopathy · ADDefinitivesufficient evidence for diagnostic panels
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.
0
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.18
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — PRPF8
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.18LOEUF
pLI 1.000
Z-score 9.10
OE 0.11 (0.07–0.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
8.28Z-score
OE missense 0.35 (0.33–0.38)
458 obs / 1297.8 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.11 (0.07–0.18)
0≤0.351.4
Missense OE?0.35 (0.33–0.38)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 14 / 122.8Missense obs/exp: 458 / 1297.8Syn Z: -4.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRPF8 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients