SOX1-OT

Chr 13

SOX1 overlapping transcript

Also known as: LINC00403, uc.357

I cannot provide a clinical gene summary for SOX1-OT as no functional or clinical information has been provided in the data below this prompt. Without details about the protein function, associated diseases, inheritance pattern, or clinical phenotypes, I cannot write an accurate clinical summary that meets the specified requirements.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

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LOEUF

—

Mechanism

Some data sources returned errors (1)

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 SOX1-OT?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 19,000

2 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SOX1-OT; 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 · 2 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
African / African American	~21k	none seen	≈ 1 in 21,000
Admixed American	~7,639	none seen	≈ 1 in 2,500

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.