Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01484
Species: Mus musculus
Position : chr11:10941473-10942029
Year: 2018
Title: Sex reversal following deletion of a single distal enhancer of Sox9.
Genome Build: mm10
Enhancer Type: Enhancer
Condition: Disease
Disease Name: sex reversal
PMID:  29903884
MONDO: MONDO:0008637
Tissue: gonadal ridge
Tissue Ontology ID: UBERON:0005294
Cell Source: Bipotential gonadal somatic cells
Cell Type: gonadal somatic cell
Experiment Type: Developmental biology assay, Functional genomics assay, Epigenomic profiling assay, Genome editing assay, Transcriptional regulation assay, In vivo transgenic reporter assay, In vivo functional assay
High Throughput Method: ATAC-seq; ChIP-seq; DNase-seq
Low Throughput Method: CRISPR-Cas9 enhancer deletion; RT-RT-qPCR; ChIP-RT-qPCR; LacZ Transgenic Reporter Assay; Immunofluorescence; H&E staining; FACS; Genotyping PCR; Sanger Sequencing
About Target Gene
Target gene : Sox9
About TF
TF name : Nr5a1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Nr5a1 Nuclear Receptor transcription pathway reactome 51
Nr5a1 Transcriptional regulation of pluripotent stem cells reactome 28
Enhancer Associated Network
Overlapping Enhancers (mm10) 2 found
Enhancer ID Position Tissue Cell Disease
E_01485 chr11:10941473-10942029 gonadal ridge gonadal somatic cell sex reversal
E_01486 chr11:10941473-10942029 gonadal ridge gonadal somatic cell sex reversal
Expression of Target Genes for the Enhancer