5ULTRA is a computational pipeline designed to annotate and score genetic variants located in the 5′ untranslated regions (5′ UTRs) of genes. By focusing on upstream open reading frames (uORFs), Kozak sequences, and optional splicing sites, it provides detailed insights into how 5′ UTR variants can affect gene regulation and disease pathogenesis.
Pinpoints uORF changes like gain or loss of start/stop codons.
Evaluates disruptions to the crucial Kozak consensus sequences.
Optionally analyzes splicing variants with a predicted effect on 5'UTR sequences.
Requires input in VCF or a specific TSV format.
Download Example VCF |
Download Example TSV
Chaldebas M. et al. (2025). Genome-wide detection of human 5’UTR variants that impact protein translation.