OR6T1

Chr 11

olfactory receptor family 6 subfamily T member 1

Also known as: OR11-277

NCBI Gene: 219874 ENSG00000181499 UniProt: Q8NGN1

OR6T1 encodes an olfactory receptor that recognizes and transduces odorant signals through G-protein-coupled receptor mechanisms in the nasal epithelium. This gene has very low constraint against loss-of-function variants and no established disease associations in pediatric neurogenetics. Olfactory receptor genes like OR6T1 are typically not associated with neurological disorders in children.

Summary from RefSeq, UniProt

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Active trials

Pubs (1 yr)

P/LP submissions

P/LP missense

1.44

LOEUF

Multiple*

Mechanism· predicted

Clinical Summary— OR6T1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

53 unique Pathogenic / Likely Pathogenic· 44 VUS of 99 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint

1.44LOEUF

pLI 0.002

Z-score 0.76

OE 0.70 (0.36–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint

-0.47Z-score

OE missense 1.10 (0.98–1.24)

189 obs / 171.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios

LoF OE0.70 (0.36–1.44)

0≤0.351.4

Missense OE1.10 (0.98–1.24)

0≤0.61.4

Synonymous OE1.25

0≤1.21.6

LoF obs/exp: 5 / 7.2Missense obs/exp: 189 / 171.6Syn Z: -1.66

0.80top 25%

GOF

0.77top 25%

LOF

0.1796th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.