About Enhancer
| Enhancer ID: | E_01056 |
| Species: | Homo sapiens |
| Position : | chr10:43581812-43582711   |
| Year: | 2016 |
| Title: | Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Hirschsprung disease |
| PMID: | 27693352 |
| MONDO: | MONDO:0018309 |
| Tissue: | intestine |
| Tissue Ontology ID: | UBERON:0000160 |
| Cell Source: | SK-N-SH |
| CVCL ID: | CVCL_0531 |
| Cell Type: | neuroblastoma cell line |
| Experiment Type: | Enhancer activity assay; Allele-specific TF binding assay; Regulatory-variant functional assay; In vivo developmental enhancer assay; Genetic association assay |
| High Throughput Method: | Human fetal-intestine H3K4me1/H3K27ac epigenomic data; DNase-seq and ENCODE TF-binding data integration |
| Low Throughput Method: | Allele-specific luciferase reporter assay; EMSA; SOX10 ChIP-qPCR; SOX10 siRNA knockdown; RT-qPCR; transgenic mouse LacZ enhancer assay; genotyping and haplotype analysis |
About Target Gene
| Target gene : | RET |
About TF
| TF name : | SOX10 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SOX10 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
Enhancer Associated Network
Expression of Target Genes for the Enhancer