ArticleGenome research2008
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed, 90 citations in OpenAlex.
- Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.Neurogenetics · 2025Article
- A basic framework to explain splice-site choice in eukaryotes.Nature communications · 2025Article
- Swt21p Is Required for Nam8p-U1 snRNP Association and Efficient Pre-mRNA Splicing inInternational journal of molecular sciences · 2025Article
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- RNA splicing: a split consensus reveals two major 5' splice site classes.Open biology · 2025Review
- U6 snRNA m6A modification is required for accurate and efficient splicing of C. elegans and human pre-mRNAs.Nucleic acids research · 2024Article
- Selected humanization of yeast U1 snRNP leads to global suppression of pre-mRNA splicing and mitochondrial dysfunction in the budding yeast.RNA (New York, N.Y.) · 2024Article
- iPS cell generation-associated point mutations include many C > T substitutions via different cytosine modification mechanisms.Nature communications · 2024Article
- A role for SNU66 in maintaining 5' splice site identity during spliceosome assembly.RNA (New York, N.Y.) · 2024Article
- The diversity of splicing modifiers acting on A-1 bulged 5'-splice sites reveals rules for rational drug design.Nucleic acids research · 2024Article
- Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.Nucleic acids research · 2024Article
- Quantitative analysis of transcription start site selection reveals control by DNA sequence, RNA polymerase II activity and NTP levels.Nature structural & molecular biology · 2024Article
- IndependentGenes · 2023Article
- In silico methods for predicting functional synonymous variants.Genome biology · 2023Review
- Higher-order epistasis and phenotypic prediction.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility GeneCancers · 2022Article
- A genetic screen in Arabidopsis reveals the identical roles for RBP45d and PRP39a in 5' cryptic splice site selection.Frontiers in plant science · 2022Article
- Autosomal dominant optic atrophy: A novel treatment forMolecular therapy. Nucleic acids · 2021Article
- Field-theoretic density estimation for biological sequence space with applications to 5' splice site diversity and aneuploidy in cancer.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Enriched Alternative Splicing in Islets of Diabetes-Susceptible Mice.International journal of molecular sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5'-splice-site (5'ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies between 5'ss nucleotides as a conserved feature of the entire set of 5'ss. These dependencies are also conserved in human-mouse pairs of orthologous 5'ss. Many disease-associated 5'ss mutations disrupt these dependencies, as can some human SNPs that appear to alter splicing. The consistency of the evidence signifies the relevance of this approach and suggests that 5'ss SNPs play a role in complex diseases.
Indexed as
Identifiers
What OpenQuestion holds
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.