ArticleGenome biology2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Article in Genome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers.
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Who cites it
98 citing papers in PubMed.
- Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.PloS one · 2016Trial
- From conservation scores to language models: a feature engineering perspective on machine learning for genetic variant interpretation.Briefings in bioinformatics · 2026Review
- Splice-altering TP53 missense mutations as drivers of dysfunction and targets for RNA-based therapy.Stem cell research & therapy · 2026Article
- Pathogenic KRAS variants disrupt structure and dynamics: Insights from integrated computational analyses.PloS one · 2026Article
- Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.Human genetics · 2025Article
- Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.Frontiers in immunology · 2025Article
- In-silico structural and functional analysis of nonsynonymous single nucleotide polymorphisms in humanIn silico pharmacology · 2025Article
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.Scientific reports · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- SpliceAPP: an interactive web server to predict splicing errors arising from human mutations.BMC genomics · 2024Article
- An interpretable model of pre-mRNA splicing for animal and plant genes.Science advances · 2024Article
- All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.Nucleic acids research · 2024Article
- Improved modeling of RNA-binding protein motifs in an interpretable neural model of RNA splicing.Genome biology · 2024Article
- An intronic RNA element modulates Factor VIII exon-16 splicing.Nucleic acids research · 2024Article
- Investigation of pathogenic germline variants in gastric cancer and development of "GasCanBase" database.Cancer reports (Hoboken, N.J.) · 2023Article
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- Non-synonymous SNPs variants of PRKCG and its association with oncogenes predispose to hepatocellular carcinoma.Cancer cell international · 2023Article
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
38 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors.
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Abstract
We have developed a novel machine-learning approach, MutPred Splice, for the identification of coding region substitutions that disrupt pre-mRNA splicing. Applying MutPred Splice to human disease-causing exonic mutations suggests that 16% of mutations causing inherited disease and 10 to 14% of somatic mutations in cancer may disrupt pre-mRNA splicing. For inherited disease, the main mechanism responsible for the splicing defect is splice site loss, whereas for cancer the predominant mechanism of splicing disruption is predicted to be exon skipping via loss of exonic splicing enhancers or gain of exonic splicing silencer elements. MutPred Splice is available at http://mutdb.org/mutpredsplice.
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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.