Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00594
Species: Homo sapiens
Position : chr8:41090000-41090300
Year: 2023
Title: SOX17 enhancer variants disrupt transcription factor binding and enhancer inactivity drives pulmonary hypertension
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: hepatocellular carcinoma
PMID:  37066790
MONDO: MONDO:0007256
Tissue: Liver
Tissue Ontology ID: UBERON:0002107
Cell Source: Hep3B
CVCL ID: CVCL_0326
Cell Type: hepatocellular carcinoma cell
Cell Ontology ID: CL:0000182
Experiment Type: Enhancer activity assay
High Throughput Method: ChIP-seq, RNA-seq
Low Throughput Method: Luciferase Reporter Assay, ChIP-RT-qPCR
About Target Gene
Target gene : SOX17
About TF
TF name : RORA
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
RORA BMAL1:CLOCK,NPAS2 activates circadian gene expression reactome 42
RORA Circadian Clock reactome 49
RORA HIF-1-alpha transcription factor network pid 67
RORA Nuclear Receptor transcription pathway reactome 51
RORA PPARA activates gene expression reactome 113
RORA RORA activates gene expression reactome 27
RORA Hs_Signaling_of_Hepatocyte_Growth_Factor_Receptor_WP313_79946 wikipathways 15
RORA Hs_Complement_and_Coagulation_Cascades_WP558_90196 wikipathways 21
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer