ArticleProceedings of the National Academy of Sciences of the United States of America2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.Neurogenetics · 2026Review
- Genome-wide detection of human 5' UTR variants that impact protein translation.American journal of human genetics · 2026Article
- Unraveling branch point-driven SR45a splicing dynamics in heat stress for plant adaptation.Science advances · 2026Article
- Genome-wide identification and expression profiling of the CoVQ gene family in Camellia Oleifera.BMC plant biology · 2026Article
- A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.Genome medicine · 2025Article
- A basic framework to explain splice-site choice in eukaryotes.Nature communications · 2025Article
- Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.Journal of human immunity · 2025Article
- Data-driven insights to inform splice-altering variant assessment.American journal of human genetics · 2025Article
- Difference Analysis Among Six Kinds of Acceptor Splicing Sequences by the Dispersion Features of 6-mer Subsets in Human Genes.Biology · 2025Article
- A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.The Journal of experimental medicine · 2025Article
- African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.Nature structural & molecular biology · 2024Article
- Haemostatic gene variations in cervical cancer-associated venous thrombosis: considerations for clinical strategies.Journal of thrombosis and thrombolysis · 2024Article
- Molecular Profile of Important Genes for Radiogenomics in the Amazon Indigenous Population.Journal of personalized medicine · 2024Article
- African ancestry neurodegeneration risk variant disrupts an intronic branchpoint inmedRxiv : the preprint server for health sciences · 2024Article
Corrections and comments
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Authors and funding
20 authors at 5 institutions in 5 countries.
Funding
Abstract
Human genetic variants that introduce an AG into the intronic region between the branchpoint (BP) and the canonical splice acceptor site (ACC) of protein-coding genes can disrupt pre-mRNA splicing. Using our genome-wide BP database, we delineated the BP-ACC segments of all human introns and found extreme depletion of AG/YAG in the [BP+8, ACC-4] high-risk region. We developed AGAIN as a genome-wide computational approach to systematically and precisely pinpoint intronic AG-gain variants within the BP-ACC regions. AGAIN identified 350 AG-gain variants from the Human Gene Mutation Database, all of which alter splicing and cause disease. Among them, 74% created new acceptor sites, whereas 31% resulted in complete exon skipping. AGAIN also predicts the protein-level products resulting from these two consequences. We performed AGAIN on our exome/genomes database of patients with severe infectious diseases but without known genetic etiology and identified a private homozygous intronic AG-gain variant in the antimycobacterial gene
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