EXOSC3

Chr 9AR

exosome component 3

Also known as: CGI-102, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10

This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pontocerebellar hypoplasia, type 1BMIM #614678
AR
0
Active trials
16
Pubs (1 yr)
P/LP submissions
P/LP missense
1.21
LOEUF
DN
Mechanism· predicted
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GeneReview available — EXOSC3
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.000
Z-score 1.08
OE 0.65 (0.371.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.05 (0.921.20)
162 obs / 154.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.65 (0.371.21)
00.351.4
Missense OE?1.05 (0.921.20)
00.61.4
Synonymous OE?1.47
01.21.6
LoF obs/exp: 7 / 10.8Missense obs/exp: 162 / 154.2Syn Z: -2.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EXOSC3 · 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.

Search ClinicalTrials.gov →