| Enhancer ID: | E_01_0882 |
| Species: | mouse |
| Position : | chr9:27532950-27534950 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) |
| Pubmed ID: | 33055097 |
| Enhancer experiment: | RNA SEQ, analysis of intron identity, gene ontology analysis, analysis of hnrnph clip SEQ data |
| Enhancer experiment description: | The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. |
| Target gene : | C9orf72 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. |
| TF name : | -- |
| TF experiment: | ?????????RNA-seq?????????????????? hnRNPH CLIP-seq ?? |
| TF experiment description: | The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. |
| Enhancer function : | The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
|---|