About Enhancer
| Enhancer ID: | E_03912 |
| Species: | Homo sapiens |
| Position : | chr2:60494251-60495546   |
| Year: | 2020 |
| Title: | Therapeutic base editing of human hematopoietic stem cells. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | sickle cell disease |
| PMID: | 32284612 |
| MONDO: | MONDO:0011382 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | CD34+ hematopoietic stem and progenitor cells |
| Cell Type: | hematopoietic stem cell |
| Cell Ontology ID: | CL:0000037 |
| Experiment Type: | Functional perturbation assay; enhancer editing assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | Amplicon deep sequencing; Illumina sequencing |
| Low Throughput Method: | CRISPR base editing; RT-qPCR; HbF measurement; HPLC; sickling assay; In vivo phenotyping |
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 (hg38)
3 found
Expression of Target Genes for the Enhancer