ArticleNucleic acids research2011
Cryptic splice sites and split genes.
Article in Nucleic acids research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- TDP43 and hnRNP K Regulate Alternative Splicing of DNAJC5.Cell biology international · 2026Article
- Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity.Function (Oxford, England) · 2026Review
- EZH2 variants derived from cryptic splice sites govern distinct epigenetic patterns during embryonic development.Nucleic acids research · 2025Article
- Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.Acta neuropathologica · 2024Article
- Recent Therapeutic Progress and Future Perspectives for the Treatment of Hearing Loss.Biomedicines · 2023Review
- Introns: the "dark matter" of the eukaryotic genome.Frontiers in genetics · 2023Review
- A genetic screen in Arabidopsis reveals the identical roles for RBP45d and PRP39a in 5' cryptic splice site selection.Frontiers in plant science · 2022Article
- Article
- Detection of aberrant gene expression events in RNA sequencing data.Nature protocols · 2021Article
- At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression.Frontiers in genetics · 2021Review
- Expression vector cassette engineering for recombinant therapeutic production in mammalian cell systems.Applied microbiology and biotechnology · 2020Review
- Novel Loss-of-Function Variants inInternational journal of molecular sciences · 2020Article
- A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.Molecular genetics & genomic medicine · 2019Article
- Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL.PLoS genetics · 2019Article
- A cytosine-rich splice regulatory determinant enforces functional processing of the humanBlood · 2019Article
- "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.Journal of inherited metabolic disease · 2018Review
- Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.Nucleic acids research · 2017Article
- mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay.PLoS genetics · 2017Article
- Data Analysis Pipeline for RNA-seq Experiments: From Differential Expression to Cryptic Splicing.Current protocols in bioinformatics · 2017Article
- Genetic diagnosis of Mendelian disorders via RNA sequencing.Nature communications · 2017Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match the exact position of introns in equivalent genes from another species. These results strongly indicate that many introns were inserted into css during evolution and they also imply that the splicing information that lies outside some introns can be independently recognized by the splicing machinery and was in place prior to intron insertion. This indicates that non-intronic splicing information had a key role in shaping the split structure of eukaryote genes.
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Registered trials
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.