OTOL1

Chr 3

otolin 1

Also known as: C1QTNF15, C1QTNF16

NCBI Gene: 131149 ENSG00000182447 UniProt: A6NHN0

This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]

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

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

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 OTOL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 67

694 rare PASS variants

Rare truncating (LoF)

1 in 840

112 rare PASS variants

Rare synonymous (reference)

1 in 130

242 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OTOL1. 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 100	1 in 860
South Asian	~43k	1 in 67	1 in 590
Remaining (unassigned)	~30k	1 in 67	1 in 1,100
European (Finnish)	~27k	1 in 120	1 in 1,100
Admixed American	~22k	1 in 80	1 in 610
African / African American	~21k	1 in 98	1 in 1,100
East Asian	~20k	1 in 63	1 in 510
Ashkenazi Jewish	~13k	1 in 190	1 in 1,500
Middle Eastern	~2,884	1 in 85	≈ 1 in 2,900

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): 4 of 4 coding exons well covered in gnomAD exomes. Genomes: 3 of 4 (exon 4 below).? see exons ↓