Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03029 |
| Species: | Homo sapiens |
| Position : | chr18:21704916-21870953 |
| Year: | 2023 |
| Title: | ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | B-cell acute lymphoblastic leukemia |
| PMID: | 36350827 |
| MONDO: | MONDO:0004947 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | MUTZ-5 |
| Cell Type: | B-lymphoblast |
| Cell Ontology ID: | CL:0017006 |
| Experiment Type: | Enhancer activity/occupancy assay; TF binding assay; Endogenous functional perturbation assay |
| High Throughput Method: | H3K27ac ChIP-seq; ERG/ETV6 ChIP-seq; ATAC-seq; RNA-seq; primary B-ALL epigenomic/transcriptomic integration |
| Low Throughput Method: | dCas9-KRAB CRISPRi of GGAA-repeat enhancer; ERG CRISPRi; ETV6 restoration; qRT-PCR; Western blot |
| Target gene : | MIB1 |
| TF name : | ERG |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| ERG | ERK cascade ( FGF8 signaling (Mouse) ) | inoh | 17 |
| ERG | ERK cascade ( FGF8 signaling (Xenopus) ) | inoh | 17 |
| ERG | FGF8 signaling pathway(Mouse) ( FGF8 signaling (Mouse) ) | inoh | 20 |
| ERG | FGF8 signaling pathway(Xenopus) ( FGF8 signaling (Xenopus) ) | inoh | 18 |
| ERG | PDGF signaling pathway | panther | 113 |
| ERG | Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 | wikipathways | 153 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03009 | chr18:21704916-21870953 | blood | B-lymphoblast | B-cell acute lymphoblastic leukemia |
| E_03026 | chr18:21704916-21870953 | blood | B-lymphoblast | B-cell acute lymphoblastic leukemia |
| E_03027 | chr18:21704916-21870953 | blood | B-lymphoblast | B-cell acute lymphoblastic leukemia |
| E_03028 | chr18:21704916-21870953 | blood | B-lymphoblast | B-cell acute lymphoblastic leukemia |
| E_03030 | chr18:21704916-21870953 | blood | B-lymphoblast | B-cell acute lymphoblastic leukemia |