About Enhancer
| Enhancer ID: | E_01278 |
| Species: | Homo sapiens |
| Position : | chr11:72308500-72309000   |
| Year: | 2024 |
| Title: | A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 39333082 |
| Tissue: | brainstem |
| Tissue Ontology ID: | UBERON:0002298 |
| Cell Source: | Cranial motor neurons |
| Cell Type: | motor neuron |
| Cell Ontology ID: | CL:0000100 |
| Experiment Type: | Enhancer activity assay, Chromatin interaction assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | scATAC-seq, scRNA-seq, scCUT&Tag |
| Low Throughput Method: | Transgenic Reporter Assay; In vivo phenotyping |
About Target Gene
| Target gene : | PHOX2A |
About TF
| TF name : | NA |
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