Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_02424 |
| Species: | Homo sapiens |
| Position : | chr16:163380-163907 |
| Year: | 2000 |
| Title: | Loading of DNA-binding factors to an erythroid enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 10688646 |
| Tissue: | pleural effusion |
| Tissue Ontology ID: | UBERON:0000175 |
| Cell Source: | K-562 |
| CVCL ID: | CVCL_0004 |
| Cell Type: | erythroid lineage cell |
| Cell Ontology ID: | CL:0000764 |
| Experiment Type: | Enhancer activity assay; TF binding motif functional assay; Functional perturbation assay; Enhanceosome assembly assay; Endogenous enhancer perturbation; TF binding assay; In vivo functional validation |
| Low Throughput Method: | Stable genomic integration of wild-type and GATA1-site mutant HS-40 constructs; electroporation; site-directed mutagenesis; human alpha1-globin promoter-growth hormone reporter assay; growth hormone radioimmunoassay; in vivo DMS genomic footprinting; ligation-mediated PCR; Southern blot copy-number analysis; ChIP; Site-directed/motif mutagenesis; In vivo phenotyping |
| Target gene : | HBA1 |
| TF name : | GATA1 |
| Regulatory State : | Active |
| 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 ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02425 | chr16:163380-163907 | pleural effusion | erythroid lineage cell | NA |
| E_02713 | chr16:163380-163907 | blood | erythroid progenitor cell | alpha thalassemia spectrum |
| E_02714 | chr16:163380-163907 | blood | erythroid progenitor cell | alpha thalassemia spectrum |
| E_03501 | chr16:163406-163841 | blood | erythroblast | NA |
| E_03502 | chr16:163406-163841 | blood | erythroblast | NA |