BRICD5

Chr 16

BRICHOS domain containing 5

Also known as: C16orf79

NCBI Gene: 283870ENSG00000182685UniProt: Q6PL45

Predicted to be involved in regulation of cell population proliferation. Predicted to be located in membrane. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
—
Mechanism
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?
1.95LOEUF
pLI 0.000
Z-score -2.17
OE 1.66 (1.14–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.93Z-score
OE missense 1.46 (1.30–1.63)
208 obs / 143.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.66 (1.14–1.95)
0≤0.351.4
Missense OE?1.46 (1.30–1.63)
0≤0.61.4
Synonymous OE?1.65
0≤1.21.6
LoF obs/exp: 21 / 12.7Missense obs/exp: 208 / 143.0Syn Z: -4.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BRICD5 · 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