Disease |
Disease |
Method |
Sample |
Expression pattern |
Dysfunction type |
Description |
PMID |
Source |
Angelman syndrome |
N/A |
N/A |
N/A |
locus |
Ube3a-as is a lncRNA transcribed antisense to the maternally expressed Ube3a gene, a candidate gene for AS, suggesting that Ube3a-as may be responsible for repressing paternal Ube3a expression. |
20380817 |
LncRNADisease
|
Angelman syndrome |
N/A |
N/A |
N/A |
regulation |
LncRNAs are also associated with imprinting disorders, such as ubiquitin protein ligase E3A (UBE3A)-ATS in Angelman syndrome. |
23562612 |
LncRNADisease
|
Angelman syndrome |
N/A |
N/A |
N/A |
expression |
Prader–Willi and Angelman syndromes, due to UBE3A expression, are affected due to the presence of a 20-kb NAT, which shares complementary sequences of UBE3A |
23781896 |
LncRNADisease
|
Prader-Willi syndrome |
N/A |
N/A |
N/A |
expression |
Prader–Willi and Angelman syndromes, due to UBE3A expression, are affected due to the presence of a 20-kb NAT, which shares complementary sequences of UBE3A |
23781896 |
LncRNADisease
|
Angelman syndrome |
N/A |
N/A |
N/A |
regulation |
Genomic context links lncRNAs to disease genes/loci and related pathways |
23791884 |
LncRNADisease
|
Angelman syndrome |
N/A |
N/A |
N/A |
mutation |
Although in the majority of human tissues, both copies of the UBE3A gene are expressed, in neurons one copy is silenced by UBE3A-AS1 (ubiquitin-protein ligase E3A antisense RNA 1). In patients suffering from Angelman syndrome, the other (active) allele has either been deleted or inactivated. |
24667321 |
LncRNADisease
|
|