NANOS1

Chr 10

nanos C2HC-type zinc finger 1

Also known as: EC_Rep1a, NOS-1, NOS1, SPGF12, ZC2HC12A

NCBI Gene: 340719ENSG00000188613UniProt: Q8WY41

This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 12

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
LOF
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
Moderate LoF intolerance
LoF Constraint?
1.22LOEUF
pLI 0.541
Z-score 1.41
OE 0.00 (0.00–1.22)
Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint?
1.20Z-score
OE missense 0.63 (0.50–0.79)
52 obs / 82.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.22)
0≤0.351.4
Missense OE?0.63 (0.50–0.79)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 0 / 2.3Missense obs/exp: 52 / 82.6Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NANOS1 · 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