Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01483
Species: Homo sapiens
Position : chr12:99975069-99978069
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: acute myeloid leukemia
PMID:  36350827
MONDO: MONDO:0018874
Tissue: Blood
Tissue Ontology ID: UBERON:0000178
Cell Source: Human AML cell
CVCL ID:
Cell Type: myeloid leukemia cell
Cell Ontology ID: CL:0001054
Experiment Type: Enhancer activity assay, TF binding assay, Functional perturbation assay
High Throughput Method: ChIP-seq, RNA-seq, ATAC-seq
Low Throughput Method: CRISPRi, RT-RT-qPCR, Western blot
About Target Gene
Target gene : WBP1L
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) 3 found
Enhancer ID Position Tissue Cell Disease
E_01480 chr12:99975069-99978069 Blood umbilical cord blood hematopoietic cell acute myeloid leukemia
E_01481 chr12:99975069-99978069 Lung alveolar epithelial type I cell --
E_01482 chr12:99975069-99978069 Lung alveolar epithelial type II cell --
Expression of Target Genes for the Enhancer