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DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites
DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pathogenic mutations in human disease genes. Aberrant 5?- and 3?-splice sites were activated either by mutations in the consensus sequences of natural exon–intron junctions (cryptic sites) or elsewhere (‘de novo’ sites). DBASS3 and DBASS5 currently contain approximately 900 records of cryptic and de novo 3?- and 5?-splice sites that were produced by over a thousand different mutations in approximately 360 genes. DBASS3 and DBASS5 data can be searched by disease phenotype, gene, mutation, location of aberrant splice sites in introns and exons and their distance from authentic counterparts, by bibliographic references and by the splice-site strength estimated with several prediction algorithms. The user can also retrieve reference sequences of both aberrant and authentic splice sites with the underlying mutation. These data will facilitate identification of introns or exons frequently involved in aberrant splicing, mutation analysis of human disease genes and study of germline or somatic mutations that impair RNA processing. Finally, this resource will be useful for fine-tuning splice-site prediction algorithms, better definition of auxiliary splicing signals and design of new reporter assays. DBASS3 and DBASS5 are freely available at http://www.dbass.org.uk/.
0305-1048
D86-D91
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Chivers, Martin
639fadfe-5293-45eb-8c38-22cbbf3f4b68
Hwang, Gyulin
f4b0347f-a35b-4e0c-938f-be2e5b40cb54
Vorechovsky, Igor
7245de2f-8c9b-4034-8935-9a451d9b682e
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Chivers, Martin
639fadfe-5293-45eb-8c38-22cbbf3f4b68
Hwang, Gyulin
f4b0347f-a35b-4e0c-938f-be2e5b40cb54
Vorechovsky, Igor
7245de2f-8c9b-4034-8935-9a451d9b682e

Buratti, Emanuele, Chivers, Martin, Hwang, Gyulin and Vorechovsky, Igor (2011) DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. Nucleic Acids Research, 39 (Supplement 1), D86-D91. (doi:10.1093/nar/gkq887). (PMID:20929868)

Record type: Article

Abstract

DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pathogenic mutations in human disease genes. Aberrant 5?- and 3?-splice sites were activated either by mutations in the consensus sequences of natural exon–intron junctions (cryptic sites) or elsewhere (‘de novo’ sites). DBASS3 and DBASS5 currently contain approximately 900 records of cryptic and de novo 3?- and 5?-splice sites that were produced by over a thousand different mutations in approximately 360 genes. DBASS3 and DBASS5 data can be searched by disease phenotype, gene, mutation, location of aberrant splice sites in introns and exons and their distance from authentic counterparts, by bibliographic references and by the splice-site strength estimated with several prediction algorithms. The user can also retrieve reference sequences of both aberrant and authentic splice sites with the underlying mutation. These data will facilitate identification of introns or exons frequently involved in aberrant splicing, mutation analysis of human disease genes and study of germline or somatic mutations that impair RNA processing. Finally, this resource will be useful for fine-tuning splice-site prediction algorithms, better definition of auxiliary splicing signals and design of new reporter assays. DBASS3 and DBASS5 are freely available at http://www.dbass.org.uk/.

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Accepted/In Press date: 6 October 2010
Published date: January 2011

Identifiers

Local EPrints ID: 166447
URI: http://eprints.soton.ac.uk/id/eprint/166447
ISSN: 0305-1048
PURE UUID: e2480308-288c-4847-a212-a5879773f0da
ORCID for Martin Chivers: ORCID iD orcid.org/0000-0001-8581-2670
ORCID for Igor Vorechovsky: ORCID iD orcid.org/0000-0002-6740-6502

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Date deposited: 28 Oct 2010 13:46
Last modified: 14 Mar 2024 02:50

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Contributors

Author: Emanuele Buratti
Author: Martin Chivers ORCID iD
Author: Gyulin Hwang

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