| Expression pattern: |
DN |
| Associated gene: |
FUS |
| Associated microRNA: |
- |
| Biological function: |
Downregulated nuclear circRNA; flanking introns show P525L FUS binding sites with inverted Alu repeats (association with downregulation). |
| Molecular mechanism: |
Association with mutant FUS binding to flanking introns containing inverted Alu repeats, potentially negatively affecting circularization. |
| Biological pathway or process: |
other pathway/process (other) |
| Detected method: |
Q
S
|
| Validation methods: |
RNA-seq; RT-qPCR; Nuclear-Cytoplasmic Fractionation; Bioinformatics Analysis |
| Clinical significance: |
- |
| Description: |
circZNF124 is a down-regulated circRNA in FUS P525L mutant human motor neurons and is predominantly nuclear in wild-type conditions. Its flanking introns show mutant FUS binding sites together with inverted Alu repeats, consistent with a proposed negative effect of mutant FUS on Alu-mediated circularization. |
| Confidence score: |
0.2799 |