ArticleOncogene2021
Comprehensive characterisation of intronic mis-splicing mutations in human cancers.
Article in Oncogene, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 72 citations in OpenAlex.
- Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum.Kidney international reports · 2026Article
- Genome-Wide Association Studies Reveal Key Candidate Genes for Egg Weight and Quality Components in an FVeterinary sciences · 2026Article
- Identification of Growth-Related Single-Nucleotide Polymorphisms in the cAMP-Dependent Protein Kinase Type I Regulatory Subunit-like Gene of the Oriental River Prawn,International journal of molecular sciences · 2026Article
- Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Pathogenicity prediction for noncanonical splice-altering variants based on multimodal feature fusion.Briefings in bioinformatics · 2026Article
- Cardioprotective SNPs in SLC28A3 and lncRNA SLC28A3-AS1 result in transcriptional changes and alternative splicing to reduce doxorubicin cytotoxicity.Human molecular genetics · 2026Article
- Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos.Acta medica Philippina · 2026Article
- Molecular basis of anti-CD36 alloimmunization: transcriptomic evidence linking intronic splice-site mutations to CD36 loss-of-function.Frontiers in immunology · 2026Article
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- The Role of Non-Coding Regions in Breast Cancer: From Gene Regulation to Therapeutic Implications.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping.Molecular therapy. Nucleic acids · 2025Article
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.Journal of clinical medicine · 2025Article
- iSoMAs: Finding isoform expression and somatic mutation associations in human cancers.PLoS computational biology · 2025Article
- Clinicopathologic and molecular characteristics of neuroendocrine carcinomas of the gallbladder.Histology and histopathology · 2025Article
- Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus.Neuro-oncology · 2025Article
- A novelHeliyon · 2024Article
- SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping.Nature communications · 2024Article
- DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Clinical immunology (Orlando, Fla.) · 2024Article
- Autophagy Gene BECN1 Intronic Variant rs9890617 Predisposes Individuals to Hepatitis B Virus Infection.Biochemical genetics · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous studies studying mis-splicing mutations were based on exome data and thus our current knowledge is largely limited to exons and the canonical splice sites. To comprehensively characterise intronic mis-splicing mutations, we analysed 1134 pan-cancer whole genomes and transcriptomes together with 3022 normal control samples. The ratio-based splicing analysis resulted in 678 somatic intronic mutations, with 46% residing in deep introns. Among the 309 deep intronic single nucleotide variants, 245 altered core splicing codes, with 38% activating cryptic splice sites, 12% activating cryptic polypyrimidine tracts, and 36% and 12% disrupting authentic polypyrimidine tracts and branchpoints, respectively. All the intronic cryptic splice sites were created at pre-existing GT/AG dinucleotides or by GC-to-GT conversion. Notably, 85 deep intronic mutations indicated gain of splicing enhancers or loss of splicing silencers. We found that 64 tumour suppressors were affected by intronic mutations and blood cancers showed higher proportion of deep intronic mutations. In particular, a telomere maintenance gene, POT1, was recurrently mis-spliced by deep intronic mutations in blood cancers. We validated a pseudoexon activation involving a splicing silencer in POT1 by CRISPR/Cas9. Our results shed light on previously unappreciated mechanisms by which noncoding mutations acting on splicing codes in deep introns contribute to tumourigenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.