Literature DB >> 22328782

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing.

Kian Huat Lim1, William Guy Fairbrother.   

Abstract

SUMMARY: It was previously demonstrated that splicing elements are positional dependent. We exploited this relationship between location and function by comparing positional distributions between all possible 4096 hexamers around a database of human splice sites. The distance measure used in this study found point mutations that produced higher distances disrupted splicing, whereas point mutations with smaller distances generally had no effect on splicing. Reasoning the idea that functional splicing elements have signature positional distributions around constitutively spliced exons, we introduce Spliceman-an online tool that predicts how likely distant mutations around annotated splice sites were to disrupt splicing. Spliceman takes a set of DNA sequences with point mutations and returns a ranked list to predict the effects of point mutations on pre-mRNA splicing. The current implementation included the analyses of 11 genomes: human, chimp, rhesus, mouse, rat, dog, cat, chicken, guinea pig, frog and zebrafish. AVAILABILITY: Freely available on the web at http://fairbrother.biomed.brown.edu/spliceman/ CONTACT: fairbrother@brown.edu.

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Year:  2012        PMID: 22328782      PMCID: PMC3315715          DOI: 10.1093/bioinformatics/bts074

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  7 in total

1.  Predictive identification of exonic splicing enhancers in human genes.

Authors:  William G Fairbrother; Ru-Fang Yeh; Phillip A Sharp; Christopher B Burge
Journal:  Science       Date:  2002-07-11       Impact factor: 47.728

2.  The UCSC Table Browser data retrieval tool.

Authors:  Donna Karolchik; Angela S Hinrichs; Terrence S Furey; Krishna M Roskin; Charles W Sugnet; David Haussler; W James Kent
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

3.  The Bioperl toolkit: Perl modules for the life sciences.

Authors:  Jason E Stajich; David Block; Kris Boulez; Steven E Brenner; Stephen A Chervitz; Chris Dagdigian; Georg Fuellen; James G R Gilbert; Ian Korf; Hilmar Lapp; Heikki Lehväslaiho; Chad Matsalla; Chris J Mungall; Brian I Osborne; Matthew R Pocock; Peter Schattner; Martin Senger; Lincoln D Stein; Elia Stupka; Mark D Wilkinson; Ewan Birney
Journal:  Genome Res       Date:  2002-10       Impact factor: 9.043

4.  Are splicing mutations the most frequent cause of hereditary disease?

Authors:  Núria López-Bigas; Benjamin Audit; Christos Ouzounis; Genís Parra; Roderic Guigó
Journal:  FEBS Lett       Date:  2005-03-28       Impact factor: 4.124

5.  Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.

Authors:  Kian Huat Lim; Luciana Ferraris; Madeleine E Filloux; Benjamin J Raphael; William G Fairbrother
Journal:  Proc Natl Acad Sci U S A       Date:  2011-06-17       Impact factor: 11.205

6.  Computational definition of sequence motifs governing constitutive exon splicing.

Authors:  Xiang H-F Zhang; Lawrence A Chasin
Journal:  Genes Dev       Date:  2004-05-14       Impact factor: 11.361

7.  Human Gene Mutation Database (HGMD): 2003 update.

Authors:  Peter D Stenson; Edward V Ball; Matthew Mort; Andrew D Phillips; Jacqueline A Shiel; Nick S T Thomas; Shaun Abeysinghe; Michael Krawczak; David N Cooper
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

  7 in total
  30 in total

1.  Characterization of splice-altering mutations in inherited predisposition to cancer.

Authors:  Silvia Casadei; Suleyman Gulsuner; Brian H Shirts; Jessica B Mandell; Hannah M Kortbawi; Barbara S Norquist; Elizabeth M Swisher; Ming K Lee; Yael Goldberg; Robert O'Connor; Zheng Tan; Colin C Pritchard; Mary-Claire King; Tom Walsh
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-16       Impact factor: 11.205

2.  Future directions for high-throughput splicing assays in precision medicine.

Authors:  Christy L Rhine; Christopher Neil; David T Glidden; Kamil J Cygan; Alger M Fredericks; Jing Wang; Nephi A Walton; William G Fairbrother
Journal:  Hum Mutat       Date:  2019-08-17       Impact factor: 4.878

3.  Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Authors:  Kamil J Cygan; Rachel Soemedi; Christy L Rhine; Abraham Profeta; Eileen L Murphy; Michael F Murray; William G Fairbrother
Journal:  Hum Genet       Date:  2017-08-05       Impact factor: 4.132

4.  Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic features.

Authors:  Tatsuhiko Naito
Journal:  Hum Mutat       Date:  2019-06-23       Impact factor: 4.878

5.  Genomic analysis of inherited hearing loss in the Palestinian population.

Authors:  Amal Abu Rayyan; Lara Kamal; Silvia Casadei; Zippora Brownstein; Fouad Zahdeh; Hashem Shahin; Christina Canavati; Dima Dweik; Tamara Jaraysa; Grace Rabie; Ryan J Carlson; Suleyman Gulsuner; Ming K Lee; Karen B Avraham; Tom Walsh; Mary-Claire King; Moien N Kanaan
Journal:  Proc Natl Acad Sci U S A       Date:  2020-08-03       Impact factor: 11.205

6.  MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta).

Authors:  Robert F Oldt; Kimberly J Bussey; Matthew L Settles; Joseph N Fass; Jeffrey A Roberts; J Rachel Reader; Srivathsan Komandoor; Victor A Abrich; Sreetharan Kanthaswamy
Journal:  Comp Med       Date:  2020-08-04       Impact factor: 0.982

Review 7.  The functional relevance of somatic synonymous mutations in melanoma and other cancers.

Authors:  Valer Gotea; Jared J Gartner; Nouar Qutob; Laura Elnitski; Yardena Samuels
Journal:  Pigment Cell Melanoma Res       Date:  2015-11       Impact factor: 4.693

8.  CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Authors:  Sulman Basit; Khalid M Al-Harbi; Sabri A M Alhijji; Alia M Albalawi; Essa Alharby; Amr Eldardear; Mohammed I Samman
Journal:  Hum Genet       Date:  2016-08-12       Impact factor: 4.132

9.  A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2.

Authors:  E Kaitlynn Allen; Wei-Min Chen; Daniel E Weeks; Fang Chen; Xuanlin Hou; José L Mattos; Josyf C Mychaleckyj; Fernando Segade; Margaretha L Casselbrant; Ellen M Mandel; Robert E Ferrell; Stephen S Rich; Kathleen A Daly; Michèle M Sale
Journal:  J Assoc Res Otolaryngol       Date:  2013-08-23

Review 10.  Alternative tumour-specific antigens.

Authors:  Christof C Smith; Sara R Selitsky; Shengjie Chai; Paul M Armistead; Benjamin G Vincent; Jonathan S Serody
Journal:  Nat Rev Cancer       Date:  2019-07-05       Impact factor: 60.716

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