ATF7-NPFF

Chr 12

ATF7-NPFF readthrough

NCBI Gene: 114108587ENSG00000267281

Predicted to enable DNA binding activity; DNA-binding transcription factor activity; and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

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
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.37
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
Moderate LoF intolerance
LoF Constraint?
0.37LOEUF
pLI 0.884
Z-score 3.85
OE 0.16 (0.08–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.06Z-score
OE missense 0.65 (0.57–0.73)
172 obs / 266.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.16 (0.08–0.37)
0≤0.351.4
Missense OE?0.65 (0.57–0.73)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 4 / 24.6Missense obs/exp: 172 / 266.5Syn Z: 1.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATF7-NPFF · 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