5'UTR Variant Annotation and Scoring

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.

uORF Analysis

Pinpoints uORF changes like gain or loss of start/stop codons.

Kozak Evaluation

Evaluates disruptions to the crucial Kozak consensus sequences.

SpliceAI Integration

Optionally analyzes splicing variants with a predicted effect on 5'UTR sequences.

Run 5ULTRA

Max variant count: 100000. Allowed types: .vcf, .tsv, .txt
Transcripts:
Annotation:
Splice Analysis:

Reference

Chaldebas M. et al. (2025). Genome-wide detection of human 5’UTR variants that impact protein translation.