About Enhancer
| Enhancer ID: | E_03836 |
| Species: | Homo sapiens |
| Position : | chr8:141161900-141175436   |
| Year: | 2014 |
| Title: | The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Intellectual Disability |
| PMID: | 24667089 |
| Tissue: | brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | Lymphoblastoid Cell Lines |
| Experiment Type: | Enhancer activity assay; TF-binding/chromatin assay; Chromatin interaction assay; Genetic-variant functional analysis; Disease-associated enhancer analysis |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay; ChIP-qPCR/ChIP; 3C; RT-qPCR/qPCR |
About Target Gene
| Target gene : | KCNK9 |
About TF
| TF name : | CTCF |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03871 | chr8:141161900-141175436 | brain | NA | NA |
Expression of Target Genes for the Enhancer