About Enhancer
| Enhancer ID: | E_02188 |
| Species: | Homo sapiens |
| Position : | chr7:156268357-156269154   |
| Year: | 2008 |
| Title: | Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | holoprosencephaly |
| PMID: | 18836447 |
| MONDO: | MONDO:0016296 |
| Tissue: | hypothalamus |
| Tissue Ontology ID: | UBERON:0001898 |
| Cell Source: | Transient transgenic mouse embryos |
| Cell Type: | embryonic forebrain cell |
| Experiment Type: | Enhancer activity assay; Functional perturbation assay; Disease-variant assay; TF binding assay |
| High Throughput Method: | DNA affinity-capture LC-MS/MS proteomics |
| Low Throughput Method: | Patient SBE2 sequencing; transgenic LacZ reporter assay; SBE2 C>T site-directed mutagenesis; transient transfection; EMSA; antibody supershift; ChIP; Transgenic mouse enhancer assay |
About Target Gene
| Target gene : | SHH |
About TF
| TF name : | SIX3 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer