NOL4
Chr 18nucleolar protein 4
Also known as: CT125, HRIHFB2255, NOLP
The NOL4 protein is predicted to bind RNA and localize to the nucleolus. This gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.22), suggesting mutations would likely cause severe disease, but no specific disease associations have been established yet. The extreme intolerance to functional variants indicates NOL4 likely plays a critical role in cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
126 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 | 0 | 0 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 65 | 2 | 0 | 67 |
Likely Benign | 0 | 1 | 1 | 2 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 66 | 50 | 2 | 118 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NOL4 · 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