EXOSC8
Chr 13ARexosome component 8
Also known as: CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9
The protein is a non-catalytic component of the RNA exosome complex that processes and degrades various RNA species in both the nucleus and cytoplasm, including mRNAs containing AU-rich elements. Mutations cause pontocerebellar hypoplasia type 1C, a severe early-onset neurodevelopmental disorder primarily affecting the brainstem and cerebellum, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variation (pLI nearly 1), indicating that heterozygous loss-of-function variants are likely benign in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
191 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 1 | 49 | 0 | 51 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 4 | 55 | 9 | 0 | 68 |
Likely Benign | 0 | 0 | 26 | 14 | 40 |
Benign | 0 | 2 | 12 | 2 | 16 |
Conflicting | — | 4 | |||
| Total | 6 | 58 | 96 | 16 | 180 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EXOSC8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools