ArticleNucleic acids research2012
SpliceDisease database: linking RNA splicing and disease.
Article in Nucleic acids research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.Molecular cancer therapeutics · 2014Pooled it
- Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.Briefings in bioinformatics · 2026Review
- Splicing control by PHF5A is crucial for melanoma cell survival.Cell proliferation · 2025Article
- Alternative splicing and related RNA binding proteins in human health and disease.Signal transduction and targeted therapy · 2024Review
- Alternative splicing of pre-mRNA modulates the immune response in Holstein cattle naturally infected withFrontiers in immunology · 2024Article
- Regulation of Pre-mRNA Splicing: Indispensable Role of Post-Translational Modifications of Splicing Factors.Life (Basel, Switzerland) · 2023Review
- Computational prediction of human deep intronic variation.GigaScience · 2022Review
- LTPConstraint: a transfer learning based end-to-end method for RNA secondary structure prediction.BMC bioinformatics · 2022Article
- Article
- Applications and potentials of nanopore sequencing in the (epi)genome and (epi)transcriptome era.Innovation (Cambridge (Mass.)) · 2021Review
- Lithium increases mitochondrial respiration in iPSC-derived neural precursor cells from lithium responders.Molecular psychiatry · 2021Article
- Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness.Frontiers in genetics · 2021Article
- Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease.Frontiers in immunology · 2021Review
- Computational Methods for Identifying Similar Diseases.Molecular therapy. Nucleic acids · 2019Review
- Mycobacterium tuberculosis H37Rv infection regulates alternative splicing in Macrophages.Bioengineered · 2018Article
- A Novel Heterozygous Intronic Mutation in theBioMed research international · 2018Article
- Integration of mRNP formation and export.Cellular and molecular life sciences : CMLS · 2017Review
- RNA splicing during terminal erythropoiesis.Current opinion in hematology · 2017Review
- LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.International journal of molecular sciences · 2017Review
- Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.Nucleic acids research · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
RNA splicing is an important aspect of gene regulation in many organisms. Splicing of RNA is regulated by complicated mechanisms involving numerous RNA-binding proteins and the intricate network of interactions among them. Mutations in cis-acting splicing elements or its regulatory proteins have been shown to be involved in human diseases. Defects in pre-mRNA splicing process have emerged as a common disease-causing mechanism. Therefore, a database integrating RNA splicing and disease associations would be helpful for understanding not only the RNA splicing but also its contribution to disease. In SpliceDisease database, we manually curated 2337 splicing mutation disease entries involving 303 genes and 370 diseases, which have been supported experimentally in 898 publications. The SpliceDisease database provides information including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases. We standardized the names of the diseases and genes and provided links for these genes to NCBI and UCSC genome browser for further annotation and genomic sequences. For the location of the mutation, we give direct links of the entry to the respective position/region in the genome browser. The users can freely browse, search and download the data in SpliceDisease at http://cmbi.bjmu.edu.cn/sdisease.
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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.