EXOSC5

Chr 19AR

exosome component 5

Also known as: CABAC, RRP41B, RRP46, Rrp46p, hRrp46p, p12B

NCBI Gene: 56915ENSG00000077348UniProt: Q9NQT4OMIM: 606492

Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in cytosol; euchromatin; and nuclear lumen. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cerebellar ataxia, brain abnormalities, and cardiac conduction defectsMIM #619576
AR
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.14
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.004
Z-score 1.29
OE 0.54 (0.28–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.89 (0.77–1.03)
131 obs / 147.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.28–1.14)
0≤0.351.4
Missense OE?0.89 (0.77–1.03)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 5 / 9.2Missense obs/exp: 131 / 147.5Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EXOSC5 · 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