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Upstream Open Reading Frame (uORF)

Definition
AI-generated

An upstream open reading frame is a short ORF in the 5′ untranslated region of a transcript, upstream of the main coding sequence.

Topics
Molecular biology
Related
Alternative Splicing Noncoding Variant Open Reading Frame

Why it matters in GWAS

5′ UTR variants may fall in uORFs and alter translation without changing the canonical protein sequence; such hits can be overlooked if annotation focuses only on CDS. Integrative studies sometimes combine Ribo-seq and variant effect scores to prioritize uORF mechanisms.

Example usage

"The credible variant lay in a uORF start codon; ribosome profiling showed altered occupancy at the main CDS start."

Alternative Splicing Noncoding Variant Open Reading Frame Ribosome Profiling (Ribo-seq) Synonymous Variant Variant Annotation
Related-term network

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References

  • Ji H, Salzberg SL. (2024). Upstream open reading frames may contain hundreds of novel human exons. PLoS Comput Biol.
  • Ji HJ, Pertea M, Salzberg SL. (2026). Annotating genomes at increased scale and resolution. Nat Rev Genet. https://doi.org/10.1038/s41576-026-00937-3
← Untranslated region (UTR) Uracil (U) →

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