About Enhancer
| Enhancer ID: | E_04429 |
| Species: | Homo sapiens |
| Position : | chr11:5168384-5181696   |
| Year: | 2003 |
| Title: | Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hereditary persistence of fetal hemoglobin |
| PMID: | 12855570 |
| MONDO: | MONDO:0020989 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | transgenic mouse erythroid cells |
| Cell Type: | erythroid cell |
| Experiment Type: | In vivo enhancer activity assay; disease breakpoint analysis |
| Low Throughput Method: | Transgenic mouse reporter assay; Cre-mediated single-copy transgene conversion; fetal globin expression analysis |
About Target Gene
| Target gene : | HBG2 |
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 (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04428 | chr11:5168384-5181696 | blood | erythroid cell | hereditary persistence of fetal hemoglobin |
Expression of Target Genes for the Enhancer