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Isoform

Definition
AI-generated

An isoform is one of multiple RNA or protein products from the same gene, commonly arising from alternative splicing, alternative promoters, or alternative polyadenylation, and represented as distinct transcript models in annotation catalogs.

Topics
Molecular biology Sequencing and omics tech
Related
Alternative Polyadenylation Alternative Splicing Canonical Transcript

Why it matters in GWAS

Some associations act on specific isoforms (splicing QTLs) while overall gene expression is unchanged; collapsing a gene to a single transcript can hide mechanisms relevant to colocalization and functional follow-up.

Example usage

"The lead variant associated most strongly with an isoform skipping exon 7, not with gene-level TPM."

Alternative Polyadenylation Alternative Splicing Canonical Transcript Splicing Quantitative Trait Locus (sQTL) Transcript RNA Sequencing (RNA-seq)
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

  • GTEx Consortium. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science.
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