ASZ1

Chr 7

ankyrin repeat, SAM and basic leucine zipper domain containing 1

Also known as: ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3

NCBI Gene: 136991ENSG00000154438UniProt: Q8WWH4

Predicted to be involved in male meiotic nuclear division; spermatogenesis; and transposable element silencing. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
Multiple*
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?
0.96LOEUF
pLI 0.000
Z-score 1.71
OE 0.64 (0.44–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.16Z-score
OE missense 0.97 (0.87–1.08)
233 obs / 240.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.44–0.96)
0≤0.351.4
Missense OE?0.97 (0.87–1.08)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 17 / 26.5Missense obs/exp: 233 / 240.1Syn Z: 1.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ASZ1 · 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