EDK
Editome Disease Knowledgebase
CNTNAP2
| Gene symbol | CNTNAP2 |
|---|---|
| Aliases | |
| Protein Name | |
| Function | |
| Species | Human |
| Editing Sites | 1 |
| Disease | Autism spectrum disorder; |
| Description | RNA editing could contribute towards aberrant synaptic formation in ASD |
| 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 | chr7:145936033 | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD | ||
|
A-to-I | intronic | chr7:146043667 | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD | ||
|
A-to-I | intronic | chr7:145849337 | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD | ||
|
A-to-I | intronic | chr7:145849307 | mRNA expression change | Presence | brain | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD |