BORCS7

Chr 10

BLOC-1 related complex subunit 7

Also known as: C10orf32

NCBI Gene: 119032ENSG00000166275UniProt: Q96B45

Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
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?
1.89LOEUF
pLI 0.000
Z-score -0.72
OE 1.30 (0.76–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.97 (0.77–1.22)
52 obs / 53.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.30 (0.76–1.89)
0≤0.351.4
Missense OE?0.97 (0.77–1.22)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 9 / 6.9Missense obs/exp: 52 / 53.8Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BORCS7 · 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