About Enhancer

Enhancer ID: E_01_358
Enhancer symbol: --
Species: Human
Position : chr12:114463712-114464080
Biosample name: HeLa,293T
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Congenital Heart Disease
DO: DOID:1682
Mesh: D006330
Distance from TSS: >2KB
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)
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.

About TF

TF name : 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.

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: --
SNP position: --
SNP experiment: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs