About Enhancer
| Enhancer ID: | E_02295 |
| Species: | Homo sapiens |
| Position : | chrX:827128-827691   |
| Year: | 2018 |
| Title: | Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | acute promyelocytic leukemia |
| PMID: | 30250174 |
| MONDO: | MONDO:0012883 |
| Tissue: | lung |
| Tissue Ontology ID: | UBERON:0002048 |
| Cell Source: | Human lung adenocarcinoma cell |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation |
| Low Throughput Method: | qRT-PCR, and ChIP-qPCR; Luciferase reporter assay; Site-directed/motif mutagenesis; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | SHOX |
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)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer