DECIPHER v11.27 release

The v11.27 DECIPHER release is out now. Find out about the new features and improvements

UTRannotator scores

UTRannotator scores are now displayed on annotation tabs. UTRannotator provides annotations for variants in 5’untranslated regions (5’UTRs) that create or disrupt upstream open reading frames (uORFs), which are tissue-specific cis-regulators of protein translation. 

The creation or disruption of uORFs have been shown to cause some diseases. UTRannotator provides the predicted consequence of a variant, along with annotations, including the strength and context of the Kozak sequence, the type of uORF being created/lost and positional information. 

Ensembl Variant Effect Predictor (VEP) analysis for IFITM5 and PGGHG transcripts with UTRannotator predictions

gnomAD

The gnomAD structural variant genome track has been updated to gnomAD v4.1. This track displays 1,199,117 high-quality structural variants identified in 63,046 genomes from unrelated individuals. The following track filters are available: gains only, losses only, insertions/ complex/ others. 

Visualisation of DDX6 gene haploinsufficiency probability and gnomAD structural variants

Regional missense constraint data 

Regional missense constraint data has been updated to gnomAD v2.1.1. This data is displayed in genome and protein browser tracks. Genes or regions with significantly less missense variation than expected, i.e. more constrained, may represent genes where natural selection most aggressively removes variation.

CDK13 (Q14004) transcript analysis showing exons, missense variants, and regional missense constraint
Edit

Tags: bioinformatics, decipher, embl-ebi, genomics, rare disease,