BOP1

Chr 8

BOP1 ribosomal biogenesis factor

NCBI Gene: 23246 ENSG00000261236 UniProt: Q14137 OMIM: 610596

BOP1 encodes a component of the PeBoW complex required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Mutations cause autosomal recessive primary microcephaly with chorioretinopathy, characterized by severe microcephaly and retinal abnormalities with onset in infancy. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in regulation of cell cycle; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. Part of PeBoW complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

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

Background carrier burden — how many people carry a rare variant somewhere in BOP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 30

1,217 rare PASS variants

Rare truncating (LoF)

1 in 2,000

133 rare PASS variants

Rare synonymous (reference)

1 in 66

598 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BOP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 37	1 in 1,900
South Asian	~43k	1 in 30	1 in 1,300
Remaining (unassigned)	~30k	1 in 30	1 in 2,600
European (Finnish)	~27k	1 in 130	1 in 1,100
Admixed American	~22k	1 in 33	1 in 1,700
African / African American	~21k	1 in 35	≈ 1 in 21,000
East Asian	~20k	1 in 35	1 in 980
Ashkenazi Jewish	~13k	1 in 100	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 38	≈ 1 in 2,800

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 15 of 16 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 16.? see exons ↓