About Enhancer
| Enhancer ID: | E_04253 |
| Species: | Homo sapiens |
| Position : | chr3:38578362-38581496   |
| Year: | 2025 |
| Title: | A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Brugada syndrome |
| PMID: | 39391988 |
| MONDO: | MONDO:0015263 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | isogenic human iPSC-derived cardiomyocytes carrying the RE5 enhancer variant |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Regulatory variant enhancer assay; genome editing assay; electrophysiological functional assay; Disease-variant functional analysis |
| High Throughput Method: | Whole-genome sequencing; case-control variant enrichment analysis; genotyping |
| Low Throughput Method: | CRISPR/Cas9 heterozygous knock-in of hg38 chr3:38580380 A>C; allele-specific SCN5A expression analysis; luciferase enhancer assay; MEF2-dependent transcriptional assay; cardiac transcription factor cotransfection; patch-clamp sodium-current assay; Start/End represent the full functionally validated RE5/VISTA hs2177 enhancer |
About Target Gene
| Target gene : | SCN5A |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer