About Enhancer
| Enhancer ID: | E_02_0762 |
| Species: | human |
| Position : | chr6:138226720-138233280   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Autoimmune diseases |
| Pubmed ID: | 29440643 |
| Enhancer experiment: | CRISPR/Cas9,Hi-C,ChIP-seq |
| Enhancer experiment description: | Recent studies have begun to address mammalian enhancer function using CRISPR-mediated genome editing, including in vivo analysis of mouse genes.To identify enhancers activated by inflammatory stimuli,we analyzed ATAC-seq and ChIP-seq data sets generated in our laboratory (GSE43036, GSE9836926, and GSE104638) for chromatin accessibility, binding of PU.1 and C/EBP (which bind to regulatory elements and help define enhancers in myeloid cells), and induction of acetylation of histone 3 lysine 27 (H3K27-Ac), which indicates enhancer activation, at enhancer peaks after LPS stimulation of primary monocytes. |
About Target gene
| Target gene : | TNFAIP3(A20,AISBL,OTUD7C,TNFA1P2) |
| Strong evidence: | -- |
| Less strong evidence: | Hi-C,ChIP-seq |
| Target gene experiment description: | To guide selection of BACs for generation of humanized transgenic mice, we analyzed chromatin conformation, accessibility, and enhancer-related histone marks at the TNFAIP3 locus using our laboratorys (GSE4303620, GSE10038321 and previously unpublished data, GSE104628) and ENCODE and NIH Roadmap ChIP-seq data (available at genome.ucsc.edu and roadmapepigenomics.org) and Hi-C data.Analysis of pre-existing high-resolution Hi-C (chromatin conformation) data in GM12878 B cells identified a 305?kb topologically associating domain (TAD) flanked by CTCF sites roughly centered around the TNFAIP3 gene body. |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
About Function
| Enhancer function : | These findings provide insights into enhancers that regulate human A20 expression to prevent inflammatory pathology and autoimmunity. |
| Enhancer function experiment: | PCR,CRISPR/Cas9 |
| Enhancer function experiment description: |
Collectively, the results show that deletion of the TT>A Enhancer at the TNFAIP3 locus results in an autoimmune/inflammatory phenotype most clearly evident as athritis. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene