NOL7

Chr 6

nucleolar protein 7

Also known as: C6orf90, PQBP3, RARG-1, dJ223E5.2

NCBI Gene: 51406ENSG00000225921UniProt: Q9UMY1

The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.67
OE 0.82 (0.53–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.47Z-score
OE missense 0.89 (0.76–1.03)
116 obs / 131.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.53–1.30)
0≤0.351.4
Missense OE?0.89 (0.76–1.03)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 13 / 15.9Missense obs/exp: 116 / 131.1Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NOL7 · 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