About Enhancer
| Enhancer ID: | E_02_0949 |
| Species: | human |
| Position : | chr12:114463712-114464080   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Congenital heart disease |
| Pubmed ID: | 22543974 |
| Enhancer experiment: | EMSA,PCR,ChIP-seq |
| Enhancer experiment description: | This strategy considered multiple genome-wide ChIP-seq data sets including the enhancer associated transcriptional co-activator p300, cardiac transcription factors Mef2a, TBX5, Gata4, Nkx2.5, SRF and computationally predicted enhancers, as well as the enhancer-associated histonemodificationH3K4me1and evolutionary conservation to identify and prioritize likely functional non-coding regions. |
About Target gene
| Target gene : | TBX5(HOS),TBX5(HOS) |
| Strong evidence: | -- |
| Less strong evidence: | EMSA,PCR |
| Target gene experiment description: | We identified three elements (CREs 2, 9, 16) with patterns of Enhancer activity overlapping the endogenous expression pattern of TBX5 and the Enhancer-trap BACs in which they were contained.;We identified three elements (CREs 2, 9, 16) with patterns of Enhancer activity overlapping the endogenous expression pattern of TBX5 and the Enhancer-trap BACs in which they were contained. |
About TF
| TF name : | TBX5(HOS)TBX5(HOS) |
| TF experiment: | EMSA |
| TF experiment description: | We hypothesized that the variant nucleotide disrupts transcrip_x0002_tion factor binding to Enhancer 9. To test this, we performed an electrophoretic mobility shift assay using short DNA probes spanning either the wild-type (G) or variant (T) allele.;We hypothesized that the variant nucleotide disrupts transcrip_x0002_tion factor binding to Enhancer 9. To test this, we performed an electrophoretic mobility shift assay using short DNA probes spanning either the wild-type (G) or variant (T) allele. |
About Function
| Enhancer function : | A significant number of CHD associated with TBX5 dysfunction might arise from non-coding mutations in TBX5 heart enhancers, effectively decoupling the heart and hand phenotypes of the Holt-Oram syndrome. |
| Enhancer function experiment: | EMSA,ChIP-seq |
| Enhancer function experiment description: |
Notably, all lines exhibited weak expression in the left atrium and almost no ex_x0002_pression in the right atrium, suggesting that the bulk of TBX5 atrial expression is regulated by Enhancers outside the genomic region covered by this BAC. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| TBX5 | Physiological factors | reactome | 12 |
| TBX5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| TBX5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| TBX5 | Physiological factors | reactome | 12 |
| TBX5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| TBX5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene