About Enhancer
| Enhancer ID: | E_01_206 | |
| Enhancer symbol: | -- | |
| Species: | Human | |
| Position : | chr5:125345378-125345495   |
|
| Biosample name: | HIT DH5A cells (RBC) | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer | |
| Disease: | Adult-onset Autosomal Dominant Demyelinating Leukodystrophy | |
| DO: | DOID:0060785 | |
| Mesh: | C566813 | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 25701871 |
| Enhancer experiment: | Luciferase Reporter Assay,4C,PCR | |
| Enhancer experiment description: | To test the predicted enhancers experimentally, we perfor-ed dual-luciferase reporter assays with constructs containing regions A, B, C or D, in direct or reverse orientation, upstream of the LMNB1 promoter . Following transfection of the constructs into HEK293T human cell line, regions A and B (in both orientations) significantly increased luciferase expression (A forward = 1.97 ± 0.2; A reverse = 1.8 ± 1.6; B forward = 2.52 ± 0.25; B reverse = 1.85 ± 0.10; mean ± standard error; P < 0.01; Fig. 3C). In contrast, constructs containing regions C and D did not significantly affect luciferase expression (Fig. 3C). Similar results were obtained when the same plasmids were transfected into NIH3T3 cell line (data not shown), suggesting that the enhancer activity of regions A and B could function across species, at least in mouse fibroblasts. Following these results, regions A and B were subsequently referred to as enhancer region A (Enh-A) and enhancer region B (Enh-B). |
About Target gene
| Target gene : | LMNB1(ADLD,LMN,LMN2,LMNB) | |
| Strong evidence: | 4C | |
| Less strong evidence: | Luciferase Reporter Assay,PCR | |
| Target gene experiment description: | To test the predicted enhancers experimentally, we perfor-ed dual-luciferase reporter assays with constructs containing regions A, B, C or D, in direct or reverse orientation, upstream of the LMNB1 promoter . Following transfection of the constructs into HEK293T human cell line, regions A and B (in both orientations) significantly increased luciferase expression (A forward = 1.97 ± 0.2; A reverse = 1.8 ± 1.6; B forward = 2.52 ± 0.25; B reverse = 1.85 ± 0.10; mean ± standard error; P < 0.01; Fig. 3C). In contrast, constructs containing regions C and D did not significantly affect luciferase expression (Fig. 3C). Similar results were obtained when the same plasmids were transfected into NIH3T3 cell line (data not shown), suggesting that the enhancer activity of regions A and B could function across species, at least in mouse fibroblasts. Following these results, regions A and B were subsequently referred to as enhancer region A (Enh-A) and enhancer region B (Enh-B). |
About TF
| TF name : | -- | |
| TF experiment: | -- | |
| TF experiment description: | -- |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
