About Enhancer
| Enhancer ID: | E_01_157 | |
| Enhancer symbol: | -- | |
| Species: | Human | |
| Position : | chr8:141161900-141175436   |
|
| Biosample name: | Lymphoblastoid Cell Lines | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer | |
| Disease: | Intellectual Disability | |
| DO: | DOID:1059 | |
| Mesh: | D008607 | |
| Distance from TSS: | >2KB | |
| 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: |
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About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
