About Enhancer
| Enhancer ID: | E_02_0794 |
| Species: | human |
| Position : | chr8:36785613-36985613   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Schizophrenia |
| Pubmed ID: | 28671686 |
| Enhancer experiment: | ChIP-seq,Hi-C |
| Enhancer experiment description: | We then assessed longer-range chromosomal contacts, spanning >200kb of linear genome. We identified genome-wide 110 long-range loop contacts affected in mutant neurons (DESeq2 P<0.05). Unexpectedly, the large majority, 84/110 or 76%, represented clustered, locus-specific loop aggregates showing massive weakening, or complete loss, after neuronal Setdb1 ablation (Figure 1d, Supplementary Figure 2c). hese deficits were specific, because ChiP-seq profiling for open chromatin-associated acetyl-H3-lysine 27 (H3K27ac) showed that 96.4% of 1,112 differentially tagged sequences were hyperacetylated in Setdb1-deficient neurons (Figure 2a, Supplementary Tables 1,2). |
About Target gene
| Target gene : | Setdb1(AU022152,ESET,KMT1E,mKIAA0067) |
| Strong evidence: | -- |
| Less strong evidence: | ChIP-seq |
| Target gene experiment description: | Therefore, we predicted that higher order chromatin organization at these positions will be highly conserved in human brain cells, and specifically in neurons, with long-range loopings radiating from ~200kb R1 towards cPCDH promoter and Enhancers primarily anchored in chromatin at and around the Setdb1 peak. To explore, we surveyed with 40kb resolution the cPCDH -bound chromosomal contacts in our in situ Hi-C datasets generated from human neurons and their isogenic neural precursors cells (NPC) and NPC-differentiated astrocytes. |
About TF
| TF name : | Ctcf(MRD21) |
| TF experiment: | ChIP-seq |
| TF experiment description: | ChIP-seq data from stem cells and CD19+ B lymphocytes significant CTCF motif enrichment.CTCF motif (red) enrichment in sequences H3K9me3 hypomethylated in KO. (e) (Left) FACS plots showing separation of crosslinked NeuN+ from NeuN? nuclei (adult cortex) for cell-type specific CTCF ChIP-seq. |
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