About Enhancer
| Enhancer ID: | E_03072 |
| Species: | Homo sapiens |
| Position : | chr4:111397892-111402926   |
| Year: | 2024 |
| Title: | Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Axenfeld-Rieger syndrome |
| PMID: | 38592784 |
| MONDO: | MONDO:0019187 |
| Tissue: | kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | HEK293 |
| CVCL ID: | CVCL_0045 |
| Cell Type: | transformed cell line |
| Experiment Type: | Enhancer activity assay; Functional perturbation assay |
| High Throughput Method: | ChIP-seq-supported enhancer annotation; public DNase-seq; public scATAC-seq; ChIP-seq; RNA-seq; whole-genome sequencing |
| Low Throughput Method: | CRISPR-Cas9 LOH-E1 deletion; PCR; Sanger sequencing; RT-qPCR; Western blot; CCK-8 assay; cell-cycle analysis; apoptosis assay; wound-healing assay |
About Target Gene
| Target gene : | PITX2 |
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)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03057 | chr4:111399594-111399691 | liver | malignant cell | hepatocellular carcinoma |
Expression of Target Genes for the Enhancer