| Expression pattern: |
DN |
| Associated gene: |
Argonaute proteins, IGF2BP3 |
| Associated microRNA: |
miR-7 / hsa-miR-7-5p |
| Biological function: |
Acts as a miR-7 sponge/reservoir; associated with dysregulation of miR-7 target genes in retinal organoids from retinal dystrophy families. |
| Molecular mechanism: |
Downregulation of CDR1as/ciRS-7 reduces miR-7 sequestration, consistent with increased miR-7 activity and dysregulation (mostly downregulation) of validated miR-7 target transcripts in retinal organoids. |
| Biological pathway or process: |
ceRNA regulation (other) |
| Detected method: |
Q
S
|
| Validation methods: |
RNA-seq; Back-Splice Junction PCR / divergent primers PCR; RT-qPCR; Transfection; Clinical Sample Validation; Bioinformatics Analysis |
| Clinical significance: |
- |
| Description: |
In X-linked inherited retinal dystrophy families with Xq27.1 inter-chromosomal insertions, CDR1as/ciRS-7 shows tissue-specific dysregulation and is down-regulated in retinal organoids and RPE. As a miR-7 sponge, reduced CDR1as/ciRS-7 is associated with dysregulation of validated miR-7 target transcripts, supporting a circRNA/miRNA/mRNA mechanism contributing to disease. |
| Confidence score: |
0.5922 |