Description

This track provides heatmaps of multiplexed assays of variant effects (MAVE) from MaveDB. Each heatmap presents the results of an experiment where many small substitutions were tested within a gene to examine their functional consequences.

Display Conventions

Heatmaps within the track display the consequence of substituting invididual amino acids within the genome with alternatives (alternatives are listed along the left edge of the heatmap). Score ranges vary among experiments, but each is presented with the highest scores in red, the lowest scores in blue, and scores at the midpoint between the two in silver. Higher scores correspond to a higher enrichment level for that variant compared to others in the experiment set.

The column along the left edge of each heatmap provide single-letter amino acid codes do indicate what was substituted in for that piece of the experiment. = indicates a synonymous substitution, - indicates a deletion, and * indicates a stop codon.

Cells where multiple scores were reported are marked with the score count (e.g. "2" if two scores were reported). Mousing over a cell in the heatmap will display the ID number of that particular substitution in the experiment, a MAVE-HGVS description of the substitution with three-letter amino acid codes, and the score (or scores, if more than one is present).

When the display is zoomed out farther than a 200,000 base window, the display switches to a coverage plot of where the MaveDB heatmaps can be found.

Track Controls

The track controls include a filter for the URN ID of the experiment (e.g. 00000103-a-1). The display supports full, pack, and squish modes. In dense mode, the track switches to a dense BED-like display where items mark the extent of individual heatmaps and exons indicate where the heatmap includes score values.

Methods

Methods for the various experiments are described briefly on the individual details pages for each heatmap in the track, and in greater detail on the MaveDB page for that experiment (link available on our own details pages).

JSON files containing data from these experiments were processed into UCSC's heatmap extension of the standard BED format for display here.

Data Access

Direct access to the data files for these experiments can be obtained from MaveDB.

References

Rubin AF, Stone J, Bianchi AH, Capodanno BJ, Da EY, Dias M, Esposito D, Frazer J, Fu Y, Grindstaff SB et al. MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays. Genome Biol. 2025 Jan 21;26(1):13. PMID: 39838450; PMC: PMC11753097