LncRNA Information
ID EL0216 Name ATXN8OS Aliases KLHL1AS; NCRNA00003; SCA8
Species Homo sapiens Chromosome 13 Start site 70107213
End site 70139753 Chain plus Exon NO. 5
Assembly GRCh38.p7 Class N/A NCBI accession NR_002717
Ensembl N/A Sequence


Disease
Disease Method Sample Expression pattern Dysfunction type Description PMID Source
spinocerebellar ataxia type 8 N/A N/A N/A locus Patients show a trinucleotide (CUG) expansion in a noncoding RNA termed ataxin 8 opposite strand (ATXN8OS), an antisense transcript to the KLHL1 gene. 16804541 LncRNADisease
spinocerebellar ataxia type 8 N/A N/A N/A mutation The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population. 18841561 LncRNADisease
spinocerebellar ataxia type 8 N/A N/A N/A expression Spinocerebellar ataxia type 8 (SCA8) involves bidirectional expression of CUG (ATXN8OS) and CAG (ATXN8) expansion transcripts. 19229559 LncRNADisease
spinocerebellar ataxia type 8 N/A N/A N/A expression RNA gain-of-function plays a significant role in SCA8: 1) CUG(exp) transcripts accumulate as ribonuclear inclusions that co-localize with MBNL1 in selected neurons in the brain. 19680539 LncRNADisease
spinocerebellar ataxia type 8 N/A N/A N/A mutation The ATXN8OS (CTA)n(CTG)n composite repeat expansion is transmitted in an autosomal dominant manner with reduced penetrance. 20301445 LncRNADisease
Spinocerebellar ataxia type 8 N/A N/A N/A Interaction ATXN8OS transcript contributes to SCA8 pathogenesis by altering the activity of MBNL/CELF alternative splicing proteins. 20380817 LncRNADisease
Spinocerebellar ataxia type 8 N/A N/A N/A mutation Expansion repeats in the ATXN8OS lncRNA gene are partly responsible for the pathology of spinocerebellar ataxia type 8 through a toxic RNA gain-of-function mechanism that includes formation of ribonuclear inclusions in the cerebellum and deregulation of muscleblind-like splicing regulator 1-mediated alternative splicing 22814587 LncRNADisease
Spinocerebellar ataxia type 8 N/A N/A N/A mutation Genetic variation in lncRNA genes causes disease and influences susceptibility 23791884 LncRNADisease
 


Interaction
Interaction target Level of interaction Type of interaction Description PMID Source
GAT4 RNA-RNA co-expression SCA8 CUG(exp) transcripts trigger splicing changes and increased expression of the CUGBP1-MBNL1 regulated CNS target, GABA-A transporter 4 (GAT4/Gabt4). 19680539 LncRNADisease