About Enhancer
| Enhancer ID: | E_04165 |
| Species: | Homo sapiens |
| Position : | chr1:228005620-228006224   |
| Year: | 2024 |
| Title: | KMT2D deficiency leads to cellular developmental disorders and enhancer dysregulation in neural-crest-containing brain organoids |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Kabuki syndrome |
| PMID: | 39327125 |
| MONDO: | MONDO:0016512 |
| Tissue: | diencephalon |
| Tissue Ontology ID: | UBERON:0001894 |
| Cell Source: | HN4-derived cerebral organoids |
| Cell Type: | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context |
| Experiment Type: | causal disease-enhancer identification and endogenous enhancer deletion; numeric coordinate supplied only by external database harmonization |
| High Throughput Method: | RNA-seq; single-cell RNA-seq; single-cell ATAC-seq; single-cell multiome; CUT&Tag; GREE multiomic enhancer-target inference |
| Low Throughput Method: | CRISPR deletion of WNT3A enhancer; KMT2D knockout; organoid differentiation; WNT3A/WNT-pathway rescue; immunostaining; mouse diencephalon validation |
About Target Gene
| Target gene : | WNT3A |
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)
7 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04162 | chr1:228005620-228006224 | brain | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04163 | chr1:228005620-228006224 | brain | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04164 | chr1:228005620-228006224 | brain | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04166 | chr1:228005620-228006224 | diencephalon | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04167 | chr1:228005620-228006224 | diencephalon | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04189 | chr1:228005620-228006224 | brain | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
| E_04190 | chr1:228005620-228006224 | diencephalon | roof-plate-like neural niche cell; neural-crest/neuronal progenitor context | Kabuki syndrome |
Expression of Target Genes for the Enhancer