About Enhancer
| Enhancer ID: | E_04228 |
| Species: | Homo sapiens |
| Position : | chr11:5225440-5225500   |
| 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: | Adenine base editing, RT-RT-qPCR, RP-HPLC; CRISPR-Cas9 endogenous deletion/editing |
About Target Gene
| Target gene : | HBG1 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Repressed |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03369 | chr11:5225000-5226000 | uterine cervix | malignant cell | cervical cancer |
| E_03370 | chr11:5225000-5226000 | blood | malignant cell | chronic myeloid leukemia |
| E_03374 | chr11:5225000-5226000 | bone element | osteosarcoma cell | osteosarcoma |
| E_03376 | chr11:5225000-5226000 | kidney | embryonic kidney cell | NA |
Expression of Target Genes for the Enhancer