About Enhancer
| Enhancer ID: | E_00369 |
| Species: | Homo sapiens |
| Position : | chr4:8708912-8710911   |
| 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: | hg19 |
| 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, Chromatin interaction assay |
| High Throughput Method: | ChIP-seq, ATAC-seq, Hi-C |
| Low Throughput Method: | Luciferase Reporter Assay, Transgenic Reporter Assay |
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 (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00370 | chr4:8708912-8712911 | Craniofacial Tissue | cranial neural crest cell | -- |
Expression of Target Genes for the Enhancer