Related LncRNAs |
ID |
lncRNA Name |
Disease |
Method |
Sample |
Expression pattern |
Dysfunction type |
Description |
PMID |
Source |
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
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
|
EL0216 |
ATXN8OS |
Spinocerebellar ataxia type 8 |
N/A |
N/A |
N/A |
mutation |
Genetic variation in lncRNA genes causes disease and influences susceptibility |
23791884 |
LncRNADisease
|
|