HAPSTR1
Chr 16HUWE1 associated protein modifying stress responses
Also known as: C16orf72, PRO0149, TAPR1
HAPSTR1 encodes a protein that negatively regulates p53-mediated stress response pathways and cellular responses to telomere erosion and DNA damage through interactions with the E3 ubiquitin ligase HUWE1. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29), but no human diseases have been definitively associated with HAPSTR1 mutations to date. Given its critical role in DNA damage response and high constraint scores, pathogenic variants would likely cause severe developmental or neurological phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
61 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 22 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 28 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 1 |
| Total | — | 54 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HAPSTR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools