NOP16

Chr 5

NOP16 nucleolar protein

Also known as: HSPC111, HSPC185

NCBI Gene: 51491ENSG00000048162UniProt: Q9Y3C1

This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted
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?
1.18LOEUF
pLI 0.012
Z-score 1.25
OE 0.52 (0.25–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.49Z-score
OE missense 0.88 (0.76–1.02)
120 obs / 136.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.25–1.18)
0≤0.351.4
Missense OE?0.88 (0.76–1.02)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 4 / 7.8Missense obs/exp: 120 / 136.2Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NOP16 · 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