NOL9
Chr 1nucleolar protein 9
Also known as: Grc3, NET6
NOL9 encodes a polynucleotide kinase that phosphorylates 5'-hydroxyl groups of RNA and DNA substrates and is essential for ribosomal RNA processing, specifically converting 32S precursor rRNA into mature 5.8S and 28S rRNAs. Mutations cause autosomal recessive intellectual developmental disorder with microcephaly, seizures, and spasticity. The gene is highly constrained against loss-of-function variants (LOEUF 0.549), consistent with its essential role in ribosome biogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
184 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 | 50 | 0 | 50 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 94 | 6 | 0 | 100 |
Likely Benign | 0 | 8 | 0 | 0 | 8 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 102 | 58 | 0 | 160 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NOL9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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