Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00044
Species: Homo sapiens
Position : chr11:8289240-8289522
Year: 2017
Title: APOBEC signature mutation generates an oncogenic enhancer that drives LMO1 expression in T-ALL.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: T-cell acute lymphoblastic leukemia
PMID:  28260788
MONDO: MONDO:0004963
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: Jurkat
CVCL ID: CVCL_0065
Cell Type: T cell
Cell Ontology ID: CL:0000084
Experiment Type: Enhancer activity assay; TF binding assay; Chromatin interaction assay; Endogenous enhancer perturbation
High Throughput Method: H3K27ac ChIP-seq; RUNX1 ChIP-seq; polyA RNA-seq; ChIA-PET
Low Throughput Method: Luciferase reporter assay using 585-bp wild-type and mutant enhancer fragments; Sanger sequencing; qRT-PCR; Site-directed/motif mutagenesis
About Target Gene
Target gene : LMO1
About TF
TF name : RUNX1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
RUNX1 AndrogenReceptor netpath 167
RUNX1 Organic cation transport reactome 9
RUNX1 RANKL netpath 84
RUNX1 Regulation of nuclear SMAD2/3 signaling pid 82
RUNX1 TGF_beta_Receptor netpath 220
RUNX1 Validated transcriptional targets of deltaNp63 isoforms pid 47
RUNX1 Pathways in cancer kegg 321
RUNX1 Chronic myeloid leukemia kegg 69
RUNX1 Acute myeloid leukemia kegg 53
Enhancer Associated Network
Overlapping Enhancers (hg19) 3 found
Enhancer ID Position Tissue Cell Disease
E_00043 chr11:8289240-8289522 blood T cell T-cell acute lymphoblastic leukemia
E_00045 chr11:8289240-8289522 blood T cell T-cell acute lymphoblastic leukemia
E_00645 chr11:8289240-8289522 breast breast epithelial cell T-cell acute lymphoblastic leukemia
Expression of Target Genes for the Enhancer