About Enhancer
| Enhancer ID: | E_04229 |
| Species: | Homo sapiens |
| Position : | chr2:60722750-60722850   |
| Year: | 2023 |
| Title: | Therapeutic adenine base editing of human hematopoietic stem cells. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | beta-thalassemia |
| PMID: | 36639729 |
| MONDO: | MONDO:0019402 |
| Tissue: | bone marrow |
| Tissue Ontology ID: | UBERON:0002371 |
| Cell Source: | CD34+ hematopoietic stem/progenitor cells |
| Cell Type: | hematopoietic stem cell |
| Cell Ontology ID: | CL:0000037 |
| Experiment Type: | Functional perturbation assay, Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | RNA-seq |
| Low Throughput Method: | CRISPR knockout, Adenine base editing, RT-RT-qPCR, Western blot; CRISPR-Cas9 endogenous deletion/editing |
About Target Gene
| Target gene : | BCL11A |
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)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer