About Enhancer
| Enhancer ID: | E_02_0104 |
| Species: | human |
| Position : | chr3:36999364-37001216   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Lynch syndrome |
| Pubmed ID: | 29898989 |
| Enhancer experiment: | ChIP-qPCR,3C,Luciferase Reporter Assay,CRISPR/Cas9 |
| Enhancer experiment description: | We provide the first description of an enhancer for the MLH1 gene. This -35kb enhancer was CTCF-bound, and disruption of the consensus binding site within the enhancer significantly impairs MLH1 expression in SW620 colorectal carcinoma cells. |
About Target gene
| Target gene : | MLH1(COCA2,FCC2,HNPCC,HNPCC2,hMLH1),MLH1(COCA2,FCC2,HNPCC,HNPCC2,hMLH1) |
| Strong evidence: | 3C,CRISPR/Cas9 |
| Less strong evidence: | ChIP-qPCR,Luciferase Reporter Assay |
| Target gene experiment description: | We deleted a DNA fragment corresponding to the -35kb region from SW620 cells,showed that the -35kb region functions as an MLH1 Enhancer in SW620 colorectal cells.;We deleted a DNA fragment corresponding to the -35kb region from SW620 cells,showed that the -35kb region functions as an MLH1 Enhancer in SW620 colorectal cells. |
About TF
| TF name : | CTCF(MRD21)CTCF(MRD21) |
| TF experiment: | CRISPR/Cas9 |
| TF experiment description: | To evaluate the impact on endogenous MLH1 expression, we next deleted a region containing the CTCF binding motif in SW620 and K562 cells using CRISPR-Cas9 (Fig 3A, ?CTCF). Similar to deletion of the entire Enhancer, we noted significant reduction in MLH1 expression in SW620 but not in K562 cells.;To evaluate the impact on endogenous MLH1 expression, we next deleted a region containing the CTCF binding motif in SW620 and K562 cells using CRISPR-Cas9 (Fig 3A, ?CTCF). Similar to deletion of the entire Enhancer, we noted significant reduction in MLH1 expression in SW620 but not in K562 cells. |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene