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Title 

ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database

 

전체 게놈상에 분포하는 ssSNPs 특성 연구

Authors 

Jin Ok YangW Y KimJong Hwa Park

Publisher 

Wiley-Blackwell

Issue Date 

2009

Citation 

Human Mutation, vol. 30, no. 12, pp. E1010-E1020

Keywords 

DiseaseSNPSplice sitessSNPTargetVariation

Abstract 

Deep sequencing has shown that over 90% of human genes undergo alternative splicing. The splicing process requires exon-intron boundary recognition. SNPs located in the boundaries (splice sites) influence exon configuration. Also, splice site SNPs (ssSNPs) alter translation efficiency of the mRNA and lead to important changes in disease susceptibility. We developed the ssSNPTarget database to provide ssSNPs on human and mouse genes. It includes: 1) ssSNP distribution information in human and mouse genes; 2) effects of SNPs in splice sites: junction strength change, protein domain change, and alternative splicing events (exon skipping, 5′- or 3′-exon extension); 3) splice site conservation in eukaryotes; and 4) associated disease information derived from OMIM, GAD, and HGMD. ssSNPTarget contains 1,576 human ssSNPs associated with 1,193 genes and 538 mouse ssSNPs associated with 281 genes. Users can query ssSNPTarget with several types of search terms (gene symbol, SNP rs number, transcript ID, or genomic position), and the information can be accessed at http://variome.kobic.re.kr/ssSNPTarget/or http://ssSNPTarget.org.

ISSN 

1059-7794

Link 

http://dx.doi.org/10.1002/humu.21128

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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