About Enhancer
| Enhancer ID: | E_00425 |
| Species: | Homo sapiens |
| Position : | chr8:140900000-140930000   |
| 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: | Normal |
| Disease Name: | -- |
| PMID: | 24667089 |
| MONDO: | |
| Tissue: | Brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | Adult brain tissue |
| CVCL ID: | |
| Cell Type: | adult brain cell |
| Cell Ontology ID: | CL:0000540 |
| Experiment Type: | Chromatin interaction assay, Enhancer activity assay |
| High Throughput Method: | ChIP-seq, RNA-seq, 3C-seq |
| Low Throughput Method: | 3C-RT-qPCR, ChIP-RT-qPCR, Luciferase reporter assay |
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)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer