About Enhancer
| Enhancer ID: | E_01_0349 |
| Species: | human |
| Position : | chr14:73133812-73135812   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Hidradenitis suppurativa |
| Pubmed ID: | 30544224 |
| Enhancer experiment: | PCR?Western blot |
| Enhancer experiment description: | Thirty-four unique mutations in patients with HS have been found in three genes encoding the ?-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. |
About Target gene
| Target gene : | -- |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Thirty-four unique mutations in patients with HS have been found in three genes encoding the ?-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. |
About TF
| TF name : | PSEN1 |
| TF experiment: | PCR?Western blot |
| TF experiment description: | Thirty-four unique mutations in patients with HS have been found in three genes encoding the ?-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. |
About Function
| Enhancer function : | Thirty-four unique mutations in patients with HS have been found in three genes encoding the ?-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Thirty-four unique mutations in patients with HS have been found in three genes encoding the ?-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum O-glucosyltransferase involved in Notch signaling. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| PSEN1 | Alzheimer disease-amyloid secretase pathway | panther | 56 |
| PSEN1 | Alzheimer disease-presenilin pathway | panther | 98 |
| PSEN1 | C. elegans Notch signaling pathway ( Notch signaling pathway Diagram ) | inoh | 8 |
| PSEN1 | Canonical Notch signaling pathway ( Notch signaling pathway Diagram ) | inoh | 19 |
| PSEN1 | Degradation of the extracellular matrix | reactome | 72 |
| PSEN1 | Drosophila Toll-like receptor signaling ( Drosophila Toll-like receptor signaling ) | inoh | 236 |
| PSEN1 | FGF signaling pathway | pid | 55 |
| PSEN1 | Mammalian Notch signaling pathway ( Notch signaling pathway Diagram ) | inoh | 15 |
| PSEN1 | Notch | netpath | 76 |
| PSEN1 | Notch signaling pathway | panther | 27 |
| PSEN1 | p75(NTR)-mediated signaling | pid | 74 |
| PSEN1 | Presenilin action in Notch and Wnt signaling | pid | 46 |
| PSEN1 | Syndecan-3-mediated signaling events | pid | 23 |
| PSEN1 | Wnt signaling pathway | kegg | 135 |
| PSEN1 | Notch signaling pathway | kegg | 44 |
| PSEN1 | Neurotrophin signaling pathway | kegg | 126 |
| PSEN1 | Alzheimer's disease | kegg | 167 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene