BOLA1

Chr 1

bolA family member 1

Also known as: CGI-143

NCBI Gene: 51027ENSG00000178096UniProt: Q9Y3E2

Predicted to be involved in cell redox homeostasis; intracellular iron ion homeostasis; and iron-sulfur cluster assembly. Located in mitochondrion. Part of iron-sulfur cluster assembly complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.78
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?
1.78LOEUF
pLI 0.038
Z-score 0.42
OE 0.72 (0.28–1.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.85 (0.71–1.02)
83 obs / 97.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.28–1.78)
0≤0.351.4
Missense OE?0.85 (0.71–1.02)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 2 / 2.8Missense obs/exp: 83 / 97.2Syn Z: 0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BOLA1 · 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