BOP1

Chr 8

BOP1 ribosomal biogenesis factor

NCBI Gene: 23246ENSG00000261236UniProt: Q14137OMIM: 610596

Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.32LOEUF
pLI 0.093
Z-score 1.15
OE 0.43 (0.17–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.26Z-score
OE missense 1.09 (0.91–1.32)
77 obs / 70.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.17–1.32)
0≤0.351.4
Missense OE?1.09 (0.91–1.32)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 2 / 4.7Missense obs/exp: 77 / 70.7Syn Z: -1.09

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

BOP1 · 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