Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02373
Species: Homo sapiens
Position : chr8:129631847-129635071
Year: 2022
Title: A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Disease
Disease Name: IDH-mutant low-grade glioma
PMID:  36201590
MONDO: MONDO:0021637
Tissue: kidney
Tissue Ontology ID: UBERON:0002113
Cell Source: HEK293T
CVCL ID: CVCL_0063
Experiment Type: Enhancer activity assay; Functional perturbation assay
Low Throughput Method: MYC Luciferase Reporter Assay; POU5F1 Overexpression
About Target Gene
Target gene : MYC
About TF
TF name : POU5F1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
POU5F1 HIF-2-alpha transcription factor network pid 34
POU5F1 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation reactome 13
POU5F1 POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation reactome 10
POU5F1 Transcriptional regulation of pluripotent stem cells reactome 28
POU5F1 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
POU5F1 Hs_Wnt_Signaling_Pathway_and_Pluripotency_WP399_90291 wikipathways 12
Enhancer Associated Network
Overlapping Enhancers (hg38) 2 found
Enhancer ID Position Tissue Cell Disease
E_03876 chr8:126650000-129950000 colon malignant cell NA
E_02303 chr8:129440000-129740000 kidney malignant cell rhabdoid tumor
Expression of Target Genes for the Enhancer