About Enhancer

Enhancer ID: E_02_0872
Species: human
Position : chr5:125345378-125345495
Biosample name:
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: Adult-onset autosomal dominant demyelinating leukodystrophy
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) signi?cantly 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 signi?cantly 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 ?broblasts. 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) signi?cantly 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 signi?cantly 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 ?broblasts. 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

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TF experiment: --
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About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
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About SNP

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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

Expression of target genes for the enhancer


Enhancer associated SNPs