ASTE1

Chr 3

asteroid structure-specific endonuclease 1

Also known as: HT001

NCBI Gene: 28990ENSG00000034533UniProt: Q2TB18OMIM: 620693

Enables 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in double-strand break repair via homologous recombination and double-strand break repair via nonhomologous end joining. Implicated in Lynch syndrome and mismatch repair cancer syndrome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.14
Clinical Summary— ASTE1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.06
OE 0.76 (0.52–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.86Z-score
OE missense 0.87 (0.80–0.96)
316 obs / 362.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.52–1.14)
0≤0.351.4
Missense OE?0.87 (0.80–0.96)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 17 / 22.4Missense obs/exp: 316 / 362.2Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ASTE1 · 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.

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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