About Enhancer
| Enhancer ID: | E_01062 |
| Species: | Homo sapiens |
| Position : | chr4:8691119-8700974   |
| Year: | 2025 |
| Title: | Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 40382324 |
| Tissue: | pulmonary lobule |
| Tissue Ontology ID: | UBERON:0010368 |
| Cell Source: | hCNCC |
| Cell Type: | cranial neural crest cell |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay |
| High Throughput Method: | ATAC-seq; ChIP-seq |
| Low Throughput Method: | Luciferase Reporter Assay; CRISPR Knockout; RT-RT-qPCR |
About Target Gene
| Target gene : | HMX1 |
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