Mar 30, 2020

MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files

Dylan AissiDavid-Alexandre Tregouet


Variants in 5'UTR regions that create upstream translation initiation AUG codons are a class of neglected non coding variations. When they associate with a premature stop codon and create upstream open reading frames (uORFs) whose translation competes with that of natural proteins, they can have strong impact on human diseases. We here describe MORFEE, a new bioinformatics tool that detects, annotates and predicts, from a standard VCF file, the creation of uORF by any 5'UTR variants on uORF creation. MORFEE was applied to two genomic resources and identified candidate functional variants that could explain statistical association signals observed in the context of Genome Wide Association Studies or could be responsible for rare forms of diseases. In conclusion MORFEE is an easy-to-use tool complementary to existing ones that can help resolving genetic investigations that remained so far unfruitful. MORFEE is written in R with code and package available at

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Mentioned in this Paper

Natural Products
Codon (Nucleotide Sequence)
Gene Mutant
Open Reading Frames
Codon, Nonsense
3' Untranslated Regions

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