Article

Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals

2019-02-07

Abstract excerpt

Upstream open reading frames (uORFs) are important tissue-specific cis -regulators of protein translation. Although isolated case reports have shown that variants that create or disrupt uORFs can cause disease, genetic sequencing approaches typically focus on protein-coding regions and ignore these variants. Here, we describe a systematic genome-wide study of variants that create and disrupt human uORFs, and expl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 564b7c0e-dbc6-5481-a2af-fb97d953dccf
DOI: 10.1101/543504

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individualsDOI 10.1101/543504Read

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.Semantic proximity Read

Disrupting upstream translation in mRNAs leads to loss-of-function associated with human diseaseSemantic proximity Read

Disrupting upstream translation in mRNAs is associated with human disease.Semantic proximity Read

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.Semantic proximity Read

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5’UTRsSemantic proximity Read

A comprehensive catalog of predicted functional upstream open reading frames in humans.Semantic proximity Read

Recommendations for clinical interpretation of variants found in non-coding regions of the genomeSemantic proximity Read

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Semantic proximity Read

The role of untranslated region variants in Mendelian disease: a review.Semantic proximity Read

GoFCards: an integrated database and analytic platform for gain of function variants in humans.Semantic proximity Read

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.Semantic proximity Read

Exploring noncoding variants in genetic diseases: from detection to functional insights.Semantic proximity Read