Skip to content

Open Reading Frame (ORF)

Definition
AI-generated

An open reading frame is a contiguous span of codons from a start to a stop signal that could be translated into a protein if ribosomes initiate there.

Topics
Molecular biology
Related
Canonical Transcript Frameshift Variant Genome Annotation

Why it matters in GWAS

Coding consequence classifiers (missense, nonsense, frameshift) refer to the reference ORF; variants in alternate ORFs or regulatory upstream ORFs may be missed or miscalled if only the canonical CDS is considered. ORF-aware annotation supports gene-based rare-variant tests.

Example usage

"The variant introduced a premature stop in a conserved upstream ORF, not in the main CDS annotated by RefSeq."

Canonical Transcript Frameshift Variant Genome Annotation Missense Variant Nonsense Variant Ribosome Profiling (Ribo-seq) Synonymous Variant Upstream Open Reading Frame
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • 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
← Omnigenic Model Operating-System Process →

Last updated (UTC · Git history)