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Regulation Summary

Ensembl Regulation provides resources describing the mechanisms of gene regulation in human and mouse cells. In particular, it focuses on transcriptional and post-transcriptional mechanisms.

Regulatory Features

Ensembl maintains a database of regions in the human and mouse genomes that could be involved in gene transcription regulation. These regions, called regulatory features, are inferred from publicly available experimental data sets, e.g.:

From this data, a process called the Regulatory Build computes MultiCell features, independently of cell-type. For each of 13 human and 5 mouse cell lines, each feature is annotated into one of the following categories:

  • Promoter associated
  • Gene associated
  • Non-gene associated (i.e. putative enhancers)
  • Polymerase III associated
  • Unclassified

Regulatory Segmentation

Ensembl also provides genome segmentation analyses for six human cells lines from the ENCODE project, an analogous summary of a region's regulatory function.

Microarray Probe Mappings

Ensembl stores microarray probe mappings for several species and technologies, including:

  • Affymetrix: IVT & ST arrays
  • Codelink: Whole genome arrays
  • Agilent: Whole genome and CGH arrays
  • Illumina: Whole genome and Infinium methylation arrays
  • Phalanx

Other Regulatory Data

Ensembl Regulation databases also store data directly imported from external sources:

  • Micro RNA target predictions for human and mouse using Microcosm.
  • Experimentally validated human enhancers from the VISTA Browser.
  • Genome-wide human and mouse regulatory module and element predictions from cisRED.
  • Reduced Representation Bisulfite Sequencing (RRBS) assays on 44 cell lines and Whole Genome Bisulphite Sequencing (assays) on three cell lines (ENCODE).
  • MeDIP-Chip methylation for 17 human cell lines and tissues (Rakyan et al., 2008) stored on DAS tracks.

Displaying Regulatory Features

Regulation data can be accessed in the browser from various angles:

Location Tab

You can configure the Region in detail panel to display tracks linked to regulation. Watch our Region in detail video to find out how to add tracks. The Regulation tracks are grouped into subdivisions:

  • Regulatory Features: these are the regions computed by the Regulatory Build (see above). You can specify regulatory feature tracks for individual cell lines or summary MultiCell features.
  • Open Chromatin and Transcription Factor Binding Sites (TFBS): experimental ChIP-Seq assays measuring open chromatin (FAIRE or DNAse experiments) or transcription factor binding.
  • Histones and Polymerases: experimental ChIP-Seq assays measuring histone marks or Polymerases II and III binding.
  • DNA Methylation: RRBS and WGBS methylation tracks.
  • Other regulatory regions: tracks from external databases (e.g VISTA, cisRED, among others).

Species-specific microarray probe mappings can be visualised by turning on tracks from the separate Oligo probes section at the bottom of the configuration panel.

Gene tab

Click on the Regulation link in the left hand side menu to view the regulatory features in the vicinity of your gene. Note that even if a regulatory region is near or within a gene, it does not necessarily affect that gene. Conversely, distal enhancers can affect a gene.

Regulation tab

Clicking on a regulatory feature will open a Regulation tab with information about the evidence supporting that regulatory feature as well as cell-specific annotations. Different views can be selected:

  • Summary: displays both the MultiCell (in grey) and cell-specific regulatory features. The core evidence (see the Regulatory Build for further explanations) is displayed for MultiCell features by default but not for cell-specific features.
  • Details by cell line: this is the default view, where you get the generic MultiCell regulatory feature, cell-specific annotation and a default set of supporting evidence. You can display more evidence tracks by clicking on Configure this page.
  • Feature Context: this view displays the regulatory features in a wider context around the chosen regulatory feature.
  • Evidence: this view displays the complete list of supporting core evidence (transcription factor (TF) binding and open chromatin) for a regulatory feature.


Data Access

In addition to the browser, the regulation data in Ensembl can also be accessed through :