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Splice-Site Variant

Definition
AI-generated

A splice-site variant is a variant near exon-intron boundaries that may alter RNA splicing.

Topics
Core genetics
Related
Loss-of-Function Variant Noncoding Variant Variant Annotation

Why it matters in GWAS

Splice-site variants provide a mechanistic route from genotype to altered transcript processing and are often prioritized in annotation and fine-mapping.

Example usage

"The candidate causal variant was annotated as a splice-site variant in the lead transcript."

Loss-of-Function Variant Noncoding Variant Variant Annotation
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

  • McLaren W, et al. (2016). The Ensembl Variant Effect Predictor. Genome Biol.
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