Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03004
Species: Homo sapiens
Position : chr19:11377207-11384314
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: ETV6-deficient B-ALL panel (Reh
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; Cas9 RNP excision of EPOR GGAA repeat; phospho-STAT5 flow cytometry
About Target Gene
Target gene : EPOR
About TF
TF name : ERG
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
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 Associated Network
Overlapping Enhancers (hg38) 5 found
Enhancer ID Position Tissue Cell Disease
E_02987 chr19:11377207-11384314 blood B-lymphoblast B-cell acute lymphoblastic leukemia
E_03005 chr19:11377207-11384314 blood B-lymphoblast B-cell acute lymphoblastic leukemia
E_03006 chr19:11377207-11384314 blood B-lymphoblast B-cell acute lymphoblastic leukemia
E_03007 chr19:11377207-11384314 blood B-lymphoblast B-cell acute lymphoblastic leukemia
E_03008 chr19:11377207-11384314 blood B-lymphoblast B-cell acute lymphoblastic leukemia
Expression of Target Genes for the Enhancer