About Enhancer
| Enhancer ID: | E_01178 |
| Species: | Homo sapiens |
| Position : | chr5:17483518-17484083   |
| Year: | 2013 |
| Title: | Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | ventricular septal defect |
| PMID: | 23644027 |
| MONDO: | MONDO:0007222 |
| Tissue: | Heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | HEK293 cells |
| CVCL ID: | CVCL_0045 |
| Cell Type: | embryonic kidney cell |
| Cell Ontology ID: | CL:0002139 |
| Experiment Type: | Enhancer activity assay |
| High Throughput Method: | |
| Low Throughput Method: | Luciferase reporter assay |
About Target Gene
| Target gene : | NKX2-5 |
About TF
| TF name : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer