About Enhancer
| Enhancer ID: | E_01587 |
| 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: | Normal |
| Disease Name: | -- |
| PMID: | 38592784 |
| MONDO: | |
| Tissue: | Sclera |
| Tissue Ontology ID: | UBERON:0001773 |
| Cell Source: | Human embryonic scleral cells |
| CVCL ID: | |
| Cell Type: | scleral fibroblast |
| Cell Ontology ID: | CL:0000057 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay, TF binding assay |
| High Throughput Method: | ChIP-seq, RNA-seq |
| Low Throughput Method: | CRISPR Knockout, ChIP-RT-qPCR, RT-RT-qPCR, Western blot |
About Target Gene
| Target gene : | PITX2 |
About TF
| TF name : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Expression of Target Genes for the Enhancer