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OR5BS1

Chr 12

olfactory receptor family 5 subfamily BS member 1

Also known as: OR5BS1P

NCBI Gene: 390313 UniProt: A0A2R8YED5

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

Research

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

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Mechanism

Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/OR5BS1?content-type=application/json

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in OR5BS1?

gnomAD v4 · ~126k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

196 rare PASS variants

Rare truncating (LoF)

1 in 380

30 rare PASS variants

Rare synonymous (reference)

1 in 260

87 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OR5BS1; 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)	~80k	1 in 350	1 in 1,500
African / African American	~21k	1 in 110	1 in 1,100
East Asian	~12k	1 in 180	≈ 1 in 3,800
European (Finnish)	~11k	1 in 760	none seen
Remaining (unassigned)	~8,424	1 in 140	1 in 760
Admixed American	~7,654	1 in 160	1 in 940
Ashkenazi Jewish	~4,630	1 in 770	none seen
South Asian	~2,418	1 in 120	≈ 1 in 590
Middle Eastern	~1,468	1 in 240	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.