We are pleased to announce the release of Ensembl 113, and the corresponding release of Ensembl Genomes 60. This release brings major gene and regulatory feature annotation updates in Homo sapiens (Human) and Mus musculus (Mouse). We have updated existing genomes and added additional genomes across the different Ensembl sites, including livestock breeds in Ensembl, three new species in Ensembl Plants and 26 new species in Ensembl Metazoa. Can’t find the species you are looking for? Don’t forget that new and exciting genome assemblies and annotations are continuously added to Ensembl Rapid Release!
Continue readingTag: gene annotation
Changes to the annotation of genes located on human patch regions
In Ensembl release 110, we have introduced changes to the way that the location of human genes located on patches are annotated and stored in the Ensembl databases.
Continue readingCool stuff Ensembl VEP can do: Using Gene Ontology annotations to understand gene function
Ensembl VEP maps your variants to genes but what do those genes do?
The Gene Ontology (GO) annotates genes with molecular function, the cellular location in which the gene product functions and the biological process in which the gene product is involved. In addition to phenotype association information, which is only available for a few genes, we now show GO annotations to help guide variant prioritisation by providing an indication of the functionality a variant may affect.
Continue readingOur new joint transcript initiative : The Matched Annotation from the NCBI and EBI (MANE) project
This blog post is a joint contribution by Joannella Morales, Jane Loveland, Adam Frankish, Fiona Cunningham and Astrid Gall.
We are pleased to introduce the Matched Annotation from the NCBI and EMBL-EBI (MANE) project. This new joint initiative between EMBL-EBI’s Ensembl project and NCBI’s RefSeq project aims to release a genome-wide transcript set that contains one well-supported transcript per protein-coding locus. All transcripts in the MANE set will perfectly align to GRCh38 and will represent 100% identity (5’UTR, coding sequence, 3’UTR) between the RefSeq (NM) and corresponding Ensembl (ENST) transcript.
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Ensembl insights: How are UTRs annotated?
It’s probably reasonable to assume that the coding sequence (CDS) of a protein-coding transcript model is the feature that is of primary interest to most people who use Ensembl. However, both the 5’ and 3’ untranslated regions (UTRs) are important biological entities in their own right, and it is vital that we in Ensembl do the best we can to represent them accurately. However, the annotation of these UTRs is complicated, so we’re going to focus on exploring the annotation process for 3’ UTRs in this article (Figure 1).