About Enhancer
| Enhancer ID: | E_04242 |
| Species: | Homo sapiens |
| Position : | chr2:60722238-60722466   |
| Year: | 2023 |
| Title: | Therapeutic adenine base editing of human hematopoietic stem cells. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | beta-thalassemia |
| PMID: | 36639729 |
| MONDO: | MONDO:0019402 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | beta-thalassemia patient CD34+ hematopoietic stem/progenitor cells |
| Cell Type: | hematopoietic stem/progenitor cell |
| Experiment Type: | Endogenous enhancer base-editing functional perturbation |
| High Throughput Method: | Targeted amplicon deep sequencing; off-target deep sequencing |
| Low Throughput Method: | ABE8e RNP base editing; erythroid differentiation; RT-qPCR; RP-HPLC; xenotransplantation |
About Target Gene
| Target gene : | BCL11A |
About TF
| TF name : | GATA1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA1 | C-MYB transcription factor network | pid | 87 |
| GATA1 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA1 | IL3 | netpath | 84 |
| GATA1 | Notch-mediated HES/HEY network | pid | 48 |
| GATA1 | p73 transcription factor network | pid | 80 |
| GATA1 | Signaling events mediated by HDAC Class I | pid | 89 |
| GATA1 | Signaling events mediated by HDAC Class II | pid | 58 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
50 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00417 | chr2:60718043-60725451 | bone marrow | erythroid progenitor cell | NA |
| E_00133 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00134 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00138 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00139 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00140 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00141 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00221 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00222 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00223 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00224 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00225 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00226 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00227 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00228 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00229 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00230 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00285 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00286 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00287 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00288 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00289 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00290 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00291 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00292 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00293 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00294 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00295 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00296 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00297 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00298 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00299 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00300 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00301 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00302 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00303 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00304 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00305 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00306 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01842 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01843 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01848 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01849 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01857 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01858 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01863 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01864 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01865 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | sickle cell disease |
| E_01866 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | beta-thalassemia |
| E_01805 | chr2:60722300-60722700 | hematopoietic system | erythroid progenitor cell | NA |
Expression of Target Genes for the Enhancer