About Enhancer
| Enhancer ID: | E_02_0388 |
| Species: | human |
| Position : | chr5:88714221-88716221   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Neurodevelopmental disorders (e.g., rett like syndrome) |
| Pubmed ID: | 30445463 |
| Enhancer experiment: | 4Cseq,ATAC-se,RNA isolation, cDNA synthesis,quantitative PCR,4C peak conservation,4C peak ZipperPlot analyses,Luciferase enhancer assays,ATAC-seq |
| Enhancer experiment description: | Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. |
About Target gene
| Target gene : | MEF2C(5430401D19Rik,9930028G15Rik,AV011172,Mef2) |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. |
About TF
| TF name : | -- |
| TF experiment: | 4Cseq,ATAC-se,RNA isolation, cDNA synthesis,quantitative PCR,4C peak conservation,4C peak ZipperPlot analyses,Luciferase enhancer assays,ATAC-seq |
| TF experiment description: | Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. |
About Function
| Enhancer function : | Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene