About Enhancer
| Enhancer ID: | E_01_0452 |
| Species: | human |
| Position : | chr17:17678780-17680780   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Autism, atypical smith magenis syndrome |
| Pubmed ID: | 29794985 |
| Enhancer experiment: | AMPure,PCR,Western Blot,Immunofluorescence Analysis,Reporter Gene Assays,RNA-Seq,transfection of Neuro-2a cells |
| Enhancer experiment description: | These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities. |
About Target gene
| Target gene : | RAI1 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities.;These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities. |
About TF
| TF name : | BDNF |
| TF experiment: | AMPure,PCR,Western Blot,Immunofluorescence Analysis,Reporter Gene Assays,RNA-Seq,transfection of Neuro-2a cells |
| TF experiment description: | These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities.;These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities. |
About Function
| Enhancer function : | These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
These results suggest a likely contribution of RAI1, either alone or in combination of other factors, to social behavior and reinforce the RAI1 gene as a candidate gene in patients with autistic manifestations or social behavioral abnormalities. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene