HSPBAP1

Chr 3

HSPB1 associated protein 1

Also known as: PASS1

NCBI Gene: 79663ENSG00000169087UniProt: Q96EW2OMIM: 608263

This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…
LOEUF 1.14
Clinical Summary— HSPBAP1
⚡
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 1.02
OE 0.78 (0.54–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.31Z-score
OE missense 0.77 (0.69–0.87)
199 obs / 258.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.54–1.14)
0≤0.351.4
Missense OE?0.77 (0.69–0.87)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 19 / 24.5Missense obs/exp: 199 / 258.4Syn Z: 0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSPBAP1 · 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