Article
Hotspot exons are common targets of splicing perturbations.
Nature communications - 12 May 2021
Glidden David T, Buerer Jeramiah L, Saueressig Camillo F, Fairbrother William G
Abstract excerpt
High-throughput splicing assays have demonstrated that many exonic variants can disrupt splicing; however, splice-disrupting variants distribute non-uniformly across genes. We propose the existence of exons that are particularly susceptible to splice-disrupting variants, which we refer to as hotspot exons. Hotspot exons are also more susceptible to splicing perturbation through drug treatment and knock-down of...
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