About Enhancer
| Enhancer ID: | E_02_0909 |
| Species: | human |
| Position : | chr8:141161900-141175436   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Intellectual disability |
| Pubmed ID: | 24667089 |
| Enhancer experiment: | RT-PCR,ChIP,Luciferase Reporter Assay,3C,DNaseI-seq |
| Enhancer experiment description: | Using 3C, we identify mutually exclusive approximately 58 and 500 kb chromatin loops in adult frontal cortex between a novel brain-specific enhancer, marked by H3K4me1 and H3K27ac, with the KCNK9 and PEG13 promoters which we propose regulates brain-specific expression. |
About Target gene
| Target gene : | KCNK9(K2p9.1,KT3.2,TASK-3,TASK3) |
| Strong evidence: | 3C |
| Less strong evidence: | RT-PCR,ChIP |
| Target gene experiment description: | Utilizing allele-specific RT-PCR, bisulphite sequencing, chromatin immunoprecipitation and chromosome conformation capture (3C) we show the reciprocal expression of the novel, paternally expressed, PEG13 non-coding RNA and maternally expressed KCNK9 genes in brain, and the biallelic expression of flanking transcripts in a range of tissues. |
About TF
| TF name : | CTCF(MRD21) |
| TF experiment: | 3C-qPCR |
| TF experiment description: | 3C-qPCR assays were performed on cerebellar samples and interaction frequencies were determined between a constant HindIII site located within the unmethylated CTCF-cohesin binding site within the KCNK9 promoter and other HindIII sites throughout the locus. We identified strong interactions between the KCNK9 promoter constant fragment with the PEG13-DMR and the CTCF-cohesin site in the enhancer region located within intron 17 of TRAPPC9. |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | -- |
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
The number on yellow line represents the distance between enhancer and
target gene