Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03681
Species: Homo sapiens
Position : chr8:128740000-128750000
Year: 2024
Title: RUNX1 C-terminal mutations impair blood cell differentiation by perturbing specific enhancer-promoter networks.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Disease
Disease Name: myeloid malignancy
PMID:  38513139
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: K-562
CVCL ID: CVCL_0004
Cell Type: malignant cell
Cell Ontology ID: CL:0001064
Experiment Type: Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay
High Throughput Method: ChIP-seq, GRID-seq, RNA-seq
Low Throughput Method: CUT&RUN-RT-qPCR, shRNA Knockdown, RT-RT-qPCR, Western blot
About Target Gene
Target gene : MYC
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 (hg38) 3 found
Enhancer ID Position Tissue Cell Disease
E_03876 chr8:126650000-129950000 colon malignant cell NA
E_03680 chr8:128740000-128750000 blood malignant cell myeloid malignancy
E_03062 chr8:128747000-128748000 blood malignant cell NA
Expression of Target Genes for the Enhancer