Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01771
Species: Homo sapiens
Position : chr12:11718965-11902194
Year: 2024
Title: ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
Genome Build: hg19
Enhancer Type: Super-enhancer
Condition: Disease
Disease Name: B-cell acute lymphoblastic leukemia
PMID:  38356460
MONDO: MONDO:0004947
Tissue: bone marrow
Tissue Ontology ID: UBERON:0002371
Cell Source: Primary ETV6::ACSL6 B-ALL cells (RJ-9)
Cell Type: precursor B cell
Cell Ontology ID: CL:0000817
Experiment Type: Super-enhancer activity assay; Enhancer hijacking assay; Chromatin interaction assay; Functional perturbation assay; In vivo functional validation
High Throughput Method: Hi-C; RNA-seq; scNMT-seq; H3K27ac CUT&Tag; H3K4me1 CUT&Tag; H3K4me3 CUT&Tag; BRD4 CUT&Tag; p300 CUT&Tag; CTCF CUT&Tag; Oxford Nanopore long-read sequencing
Low Throughput Method: Luciferase Reporter Assay (HEK293T; SE2-derived 3-kb element); RT-qPCR; BET inhibitor JQ1 perturbation; Cytometric Bead Array; In vivo phenotyping; Xenograft/xenotransplant
About Target Gene
Target gene : IL3
About TF
TF name : NA
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_01770 chr12:11718965-11902194 bone marrow precursor B cell B-cell acute lymphoblastic leukemia
E_01772 chr12:11718965-11902194 bone marrow precursor B cell B-cell acute lymphoblastic leukemia
Expression of Target Genes for the Enhancer