BNIP5

Chr 6

BCL2 interacting protein 5

Also known as: C6orf222

NCBI Gene: 389384ENSG00000189325UniProt: P0C671

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
LOEUF
GOF
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?
1.32LOEUF
pLI 0.000
Z-score 0.12
OE 0.98 (0.73–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.98Z-score
OE missense 1.14 (1.05–1.24)
422 obs / 369.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.73–1.32)
0≤0.351.4
Missense OE?1.14 (1.05–1.24)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 31 / 31.8Missense obs/exp: 422 / 369.0Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BNIP5 · 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