OR8H1

Chr 11

olfactory receptor family 8 subfamily H member 1

Also known as: OR11-180

NCBI Gene: 219469 ENSG00000181693 UniProt: Q8NGG4

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)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.95LOEUF

pLI 0.000

Z-score -1.14

OE 1.73 (0.77–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.31Z-score

OE missense 1.29 (1.15–1.44)

215 obs / 167.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.73 (0.77–1.95)

0≤0.351.4

Missense OE?1.29 (1.15–1.44)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 5 / 2.9Missense obs/exp: 215 / 167.3Syn Z: 0.34

Background carrier burden — how many people carry a rare variant somewhere in OR8H1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

414 rare PASS variants

Rare truncating (LoF)

1 in 1,100

61 rare PASS variants

Rare synonymous (reference)

1 in 700

150 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR8H1. 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 260	1 in 1,300
South Asian	~43k	1 in 210	1 in 650
Remaining (unassigned)	~30k	1 in 170	1 in 670
European (Finnish)	~27k	1 in 490	≈ 1 in 13,000
Admixed American	~22k	1 in 110	1 in 1,800
African / African American	~21k	1 in 120	1 in 730
East Asian	~20k	1 in 120	1 in 550
Ashkenazi Jewish	~13k	1 in 720	1 in 1,500
Middle Eastern	~2,884	1 in 130	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓