Motivation: Alternative splicing has recently emerged as a key mechanism responsible for the expansion of transcriptome and proteome complexity in human and other organisms. Although several online resources devoted to alternative splicing analysis are available they may suffer from limitations related both to the computational methodologies adopted and to the extent of the annotations they provide that prevent the full exploitation of the available data. Furthermore, current resources provide limited query and download facilities.
Results: ASPicDB is a database designed to provide access to reliable annotations of the alternative splicing pattern of human genes and to the functional annotation of predicted splicing isoforms. Splice-site detection and full-length transcript modeling have been carried out by a genome-wide application of the ASPic algorithm, based on the multiple alignments of gene-related transcripts (typically a Unigene cluster) to the genomic sequence, a strategy that greatly improves prediction accuracy compared to methods based on independent and progressive alignments. Enhanced query and download facilities for annotations and sequences allow users to select and extract specific sets of data related to genes, transcripts and introns fulfilling a combination of user-defined criteria. Several tabular and graphical views of the results are presented, providing a comprehensive assessment of the functional implication of alternative splicing in the gene set under investigation. ASPicDB, which is regularly updated on a monthly basis, also includes information on tissue-specific splicing patterns of normal and cancer cells, based on available EST sequences and their library source annotation.
Availability: www.caspur.it/ASPicDB
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http://dx.doi.org/10.1093/bioinformatics/btn113 | DOI Listing |
Reprod Biol Endocrinol
January 2025
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Background: Heterogeneous nuclear ribonucleoprotein M (HnRNPM) is a key splicing factor involved in various biological processes, including the epithelial‒mesenchymal transition and cancer development. Alternative splicing is widely involved in the process of spermatogenesis. However, the function of hnRNPM as a splicing factor during spermatogenesis remains unknown.
View Article and Find Full Text PDFHum Genomics
January 2025
Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.
View Article and Find Full Text PDFCurr Opin Struct Biol
January 2025
Sorbonne Université, CNRS, IBPS, Laboratory of Computational and Quantitative Biology (LCQB), UMR 7238, 75005 Paris, France.
The mRNA splicing machinery has been estimated to generate 100,000 known protein-coding transcripts for 20,000 human genes (Ensembl, Sept. 2024). However, this set is expanding with the massive and rapidly growing data coming from high-throughput technologies, particularly single-cell and long-read sequencing.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
Department of Agriculture, Forestry and Bioresources, Research Institute of Agriculture and Life Sciences, Plant Genomics and Breeding Institute, College of Agriculture and Life Sciences, Seoul National University, Seoul, 08826, Republic of Korea.
The single recessive Chilli veinal mottle virus resistance locus, cvr4, was fine-mapped in pepper through bulked segregant RNA sequencing combined with gene silencing analysis. Chilli veinal mottle virus (ChiVMV) is a widespread pathogen affecting the production of peppers (Capsicum annuum L.) in Asia and Africa.
View Article and Find Full Text PDFJBMR Plus
February 2025
Department of Orthopaedic Surgery and Sports Medicine, University of Washington School of Medicine, Seattle, WA 98195, United States.
Human genetic studies have nominated cadherin-like and PC-esterase domain-containing 1 () as a candidate target gene mediating bone mineral density (BMD) and fracture risk heritability. Recent efforts to define the role of in bone in mouse and human models have revealed complex alternative splicing and inconsistent results arising from gene targeting, making its function in bone difficult to interpret. To better understand the role of in adult bone mass and morphology, we conducted a comprehensive genetic and phenotypic analysis of in zebrafish, an emerging model for bone and mineral research.
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