ATXN8OS

Chr 13

ATXN8 opposite strand lncRNA

Also known as: KLHL1AS, NCRNA00003, SCA8

NCBI Gene: 6315 ENSG00000230223 UniProt: P0DMR3

ATXN8OS is a non-protein-coding antisense transcript to the KLHL1 gene that normally regulates gene expression through antisense mechanisms. Trinucleotide repeat expansions in this transcript cause spinocerebellar ataxia type 8, a late-onset progressive cerebellar disorder characterized by gait ataxia, dysarthria, and abnormal eye movements. The condition follows autosomal dominant inheritance with reduced penetrance and anticipation.

GeneReviews ResearchSummary from RefSeq, OMIM

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — ATXN8OS

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

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 ATXN8OS?

gnomAD v4 · ~645k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 970

18 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ATXN8OS; 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 · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~510k	none seen	1 in 710
South Asian	~33k	none seen	1 in 1,100
Remaining (unassigned)	~27k	none seen	1 in 1,700
African / African American	~21k	none seen	1 in 700
East Asian	~19k	none seen	1 in 550
European (Finnish)	~17k	none seen	1 in 1,000
Admixed American	~12k	none seen	≈ 1 in 2,500
Ashkenazi Jewish	~9,565	none seen	1 in 1,700

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.