Enhancer ID: | E_01_149 | |
Enhancer symbol: | -- | |
Species: | Human | |
Position : | chr14:77264349-77265491 |
|
Biosample name: | HEK-293 | |
Experiment class : | Low+High throughput |
Enhancer type: | Enhancer | |
Disease: | Alzheimer's Disease | |
DO: | DOID:10652 | |
Mesh: | D000544 | |
Distance from TSS: | >2KB | |
Pubmed ID: | 24362753 |
Enhancer experiment: | ChIP-seq,Luciferase Reporter Assay,PCR | |
Enhancer experiment description: | Using reporter constructs we identified potential promoter/enhancer elements between the transcription start site and 1142 bp upstream. Using 184 post mortem temporal lobe samples we replicated the reported negative effect of age, and after genotyping tagging SNPs we found one (rs981471) showing a significant correlation with the gene’s expression and another(rs8014408) showing an interaction with age, the rare C allele being correlated with higher expression and faster decline. |
Target gene : | NGB(NGB) | |
Strong evidence: | -- | |
Less strong evidence: | ChIP-seq,Luciferase Reporter Assay,PCR | |
Target gene experiment description: | Real time PCR quantification of the NGB transcript gave consistent amplification from cDNA with little variation within triplicates. It was clear however that the NGB transcript is at low abundance in the adult human temporal lobe, as the detection threshold (Ct) in our qPCR analysis was reached at cycle 26.5 compared to cycle 19 for the ACTB gene at the same cDNA input. This is an estimated 180-fold difference depending on amplification efficiency. |
TF name : | -- | |
TF experiment: | -- | |
TF experiment description: | -- |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
-- |
SNP ID: | rs981471 | |
SNP position: | 77629017 |
SNP experiment: | Luciferase Reporter Assay |
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