PIGBOS1

Chr 15

PIGB opposite strand 1

Also known as: HP06981

NCBI Gene: 101928527 ENSG00000225973 UniProt: A0A0B4J2F0 OMIM: 618809

Involved in regulation of endoplasmic reticulum unfolded protein response. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Involved in regulation of endoplasmic reticulum unfolded protein response. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PIGBOS1?

gnomAD v4 · ~123k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,000

39 rare PASS variants

Rare truncating (LoF)

1 in 1,600

15 rare PASS variants

Rare synonymous (reference)

1 in 4,800

14 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PIGBOS1; this gene does not show strong loss-of-function constraint by this measure. 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)	~79k	1 in 1,700	1 in 1,600
African / African American	~21k	1 in 410	1 in 630
East Asian	~11k	1 in 850	≈ 1 in 11,000
European (Finnish)	~10k	≈ 1 in 3,500	≈ 1 in 3,500
Remaining (unassigned)	~8,188	1 in 820	1 in 740
Admixed American	~7,655	1 in 1,300	≈ 1 in 1,800
Ashkenazi Jewish	~4,621	none seen	≈ 1 in 4,600
South Asian	~2,419	≈ 1 in 760	none seen
Middle Eastern	~648	≈ 1 in 650	none seen

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): 0 of 1 coding exons well covered in gnomAD exomes; exon 2 poorly covered. Genomes: all 1.? see exons ↓