About Enhancer
| Enhancer ID: | E_01425 |
| 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 |
| Disease Name: | -- |
| PMID: | 40382324 |
| MONDO: | |
| Tissue: | Craniofacial Tissue |
| Tissue Ontology ID: | UBERON:0010368 |
| Cell Source: | hCNCC |
| CVCL ID: | |
| Cell Type: | cranial neural crest cell |
| Cell Ontology ID: | CL:0000333 |
| 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 : |
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