NOL3

Chr 16AD

nucleolar protein 3

Also known as: ARC, FCM, MYOCL1, MYP, NOP, NOP30

This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Myoclonus, familial, 1MIM #614937
AD
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.62
LOEUF
GOF
Mechanism· predicted
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GeneReview available — NOL3
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.62LOEUF
pLI 0.000
Z-score 0.37
OE 0.85 (0.461.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.03 (0.901.19)
131 obs / 126.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.85 (0.461.62)
00.351.4
Missense OE?1.03 (0.901.19)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 6 / 7.1Missense obs/exp: 131 / 126.9Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NOL3 · 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 →