About Enhancer
| Enhancer ID: | E_02_0850 |
| Species: | human |
| Position : | chr7:95210132-95260132   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Clear cell renal cell carcinoma |
| Pubmed ID: | 26505625 |
| Enhancer experiment: | ChIP,ChIP-seq |
| Enhancer experiment description: | rs11762213 alone is found in a regulatory element of MET likely in an enhancer domain, and this has implications for its interaction both with MET itself and with potentially other cis-acting target genes.To further characterize the functional significance of rs11762213 we used our previously generated genome-wide chromatin annotation maps using cultured human proximal tubular epithelial cells (HKC8) and overlaid them with previously generated gene regulatory annotation maps from a panel of ChIP-seq data using the hidden Markov model-based ChromHMM chromatin segmentation program (Figure 4). Notably, rs11762213 maps to an H3K4me1 histone modification mark, which serves as an enhancer marker and is therefore consistent with the hypothesis that the SNP has a regulatory function.Mapping of rs11762213 to regulatory regions within the genome suggests that it may impact a DNA enhancer region. |
About Target gene
| Target gene : | MET(AUTS9,DFNB97,HGFR,RCCP2,c-Met) |
| Strong evidence: | -- |
| Less strong evidence: | ChIP,RNA-seq |
| Target gene experiment description: | Next, we assessed the impact of rs11762213 on MET steady-state mRNA and protein tumor expression using available RNA seq data and reverse phase protein array (RPPA) data from the TCGA. We found no difference in tumor MET expression by SNP status (p=0.47 Mann Whitney) including all detected MET isoforms (n=18) (Supplemental figure 2A). Since rs11762213 is located in the coding region of exon 2 we further explored exon level expression differences by genotype and again did not find any difference by genotype for exon 2 MET expression (p=0.29) of any other exon (Supplemental figure 3). Additionally, we did not see differences in tumor MET protein (p=0.88) or MET phospho-protein expression (Y1235) (Supplemental figure 2B and 2C).rs11762213 was associated with higher normal tissue MET expression (p=0.019), however, in an independent normal kidney Affymetrix mRNA array data set this finding did not validate (n=95) (data not shown). |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
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 |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene