EDK
Editome Disease Knowledgebase
RELL2
| Gene symbol | RELL2 |
|---|---|
| Aliases | |
| Protein Name | |
| Function | |
| Species | Human |
| Editing Sites | 1 |
| Disease | Autism spectrum disorder; |
| Description | Exon 9-included CCDC15 and exon 3-included RELL2 isoforms are oncogenic and tumor suppressive, respec- tively. More importantly, ADARs-mediated splicing changes indeed affect tumorigenesis, not merely byproducts of ADARs editing and binding. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | (Uniport); (NM id); (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | intronic | NA | Alternative splicing change | Presence | EC109 cells; HEK293T cells | Alternative splicing change | Exon 9-included CCDC15 and exon 3-included RELL2 isoforms are oncogenic and tumor suppress |