About Enhancer
| Enhancer ID: | E_03871 |
| 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: | Normal |
| PMID: | 24667089 |
| Tissue: | brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | adult human frontal cortex and cerebellum |
| Experiment Type: | Enhancer chromatin-state assay; Chromatin interaction assay; TF/cohesin binding assay; Imprinting assay; Enhancer activity assay; TF binding assay |
| High Throughput Method: | Public CTCF ChIA-PET data integration; published brain H3K4me1/H3K27ac/p300 chromatin-profile data integration |
| Low Throughput Method: | 3C-qPCR; CTCF ChIP-qPCR; RAD21 ChIP-qPCR; SMC3 ChIP-qPCR; allele-specific RT-PCR; bisulfite sequencing; ChIP; 3C; Allele-specific reporter assay |
About Target Gene
| Target gene : | PEG13 |
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_03836 | chr8:141161900-141175436 | brain | NA | Intellectual Disability |
Expression of Target Genes for the Enhancer