VarySysDB: a human genetic polymorphism database based on all H-InvDB transcriptsстатья из журнала
Аннотация: Creation of a vast variety of proteins is accomplished by genetic variation and a variety of alternative splicing transcripts. Currently, however, the abundant available data on genetic variation and the transcriptome are stored independently and in a dispersed fashion. In order to provide a research resource regarding the effects of human genetic polymorphism on various transcripts, we developed VarySysDB, a genetic polymorphism database based on 187 156 extensively annotated matured mRNA transcripts from 36 073 loci provided by H-InvDB. VarySysDB offers information encompassing published human genetic polymorphisms for each of these transcripts separately. This allows comparisons of effects derived from a polymorphism on different transcripts. The published information we analyzed includes single nucleotide polymorphisms and deletion–insertion polymorphisms from dbSNP, copy number variations from Database of Genomic Variants, short tandem repeats and single amino acid repeats from H-InvDB and linkage disequilibrium regions from D-HaploDB. The information can be searched and retrieved by features, functions and effects of polymorphisms, as well as by keywords. VarySysDB combines two kinds of viewers, GBrowse and Sequence View, to facilitate understanding of the positional relationship among polymorphisms, genome, transcripts, loci and functional domains. We expect that VarySysDB will yield useful information on polymorphisms affecting gene expression and phenotypes. VarySysDB is available at http://h-invitational.jp/varygene/.
Год издания: 2008
Авторы: Makoto Shimada, Ryosuke MATSUMOTO, Yûji Hayakawa, Ryoko Sanbonmatsu, Clare Gough, Yumi Yamaguchi‐Kabata, Chihiro Yamasaki, Tadashi Imanishi, Takashi Gojobori
Издательство: Oxford University Press
Источник: Nucleic Acids Research
Ключевые слова: Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, RNA and protein synthesis mechanisms
Другие ссылки: Nucleic Acids Research (PDF)
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Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
PubMed (HTML)
Nucleic Acids Research (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
PubMed (HTML)
Открытый доступ: gold
Том: 37
Выпуск: Database
Страницы: D810–D815