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Splice junction

Definition
AI-generated

A splice junction is the boundary between an exon and an adjacent exon after intron removal, represented in RNA-seq as read or read-pair support across the ligated exon–exon sequence; junction counts quantify isoform usage and splicing events.

Topics
Molecular biology Sequencing Data Analysis
Related
Alternative Splicing Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq)

Why it matters in GWAS

Junction-level quantification powers sQTL mapping and can reveal variant effects on splicing that are invisible to exon- or gene-level summaries, tightening mechanistic links for regulatory GWAS hits.

Example usage

"We tested association of the GWAS SNP with splice junction reads supporting exon skipping in heart tissue."

Alternative Splicing Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq) Splicing Quantitative Trait Locus (sQTL) Splice-Site Variant Transcript
Related-term network

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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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