NSUN7

Chr 4

NOP2/Sun RNA methyltransferase family member 7

NCBI Gene: 79730ENSG00000179299UniProt: Q8NE18OMIM: 617185

Predicted to enable RNA binding activity and methyltransferase activity. Predicted to be involved in methylation. Predicted to act upstream of or within flagellated sperm motility and sperm mitochondrion organization. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 2.38
OE 0.50 (0.32–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.48Z-score
OE missense 0.93 (0.85–1.02)
341 obs / 366.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.32–0.79)
0≤0.351.4
Missense OE?0.93 (0.85–1.02)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 13 / 26.1Missense obs/exp: 341 / 366.7Syn Z: 1.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NSUN7 · 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