Conversation

Hi #GI2022! I'll be presenting our web server VuTR (vutr.rarediseasegenomics.org), later today in the poster session. Come and say hi at P12!

9:10 AM · Sep 22, 2022

Replying to

VuTR looks at the vastly under-appreciated world of 5' UTRs (untranslated regions). We know that they are very important for gene regulation.

Elston Neil D'Souza

@elston_neil

Sep 22, 2022

Why? Well, that is because of upstream elements that the ribosome reads called uORFs (or upstream open reading frames). We know that this is the case in particular examples such as MEF2C and NF2. (nature.com/articles/s4146)

nature.com

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications - Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of...

Elston Neil D'Souza

@elston_neil

Sep 22, 2022

VuTR is powered by the wonderful VEP plugin, UTR Annotator by

@xiaolei_gene

(academic.oup.com/bioinformatics) and we integrate with ClinVar and gnomAD among other tools coming soon.

academic.oup.com

Annotating high-impact 5′untranslated region variants with the UTRannotator

AbstractSummary. Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of thes

Also want to thank

for picking the winning name for our app 🥳 and saving us from our terrible working titles!