The infevers autoinflammatory mutation online registry: Update with new genes and functions
The infevers autoinflammatory mutation online registry: Update with new genes and functions
复制标题
DOI：
10.1002/humu.20720
复制
发表时间：
2008-06-01
期刊：
影响因子：
3.9
通讯作者：
Touitou, Isabelle
中科院分区：
文献类型：
--
作者：
Milhavet, Florian;Cuisset, Laurence;Touitou, Isabelle
感染（互联网发烧; http：//fmf.igh.cnrs.fr/ISSAID/infevers），一个致力于遗传性自身炎性疾病突变的网站，创建于2002年，并一直在发展。这个新版本包括八个基因;六个已经存在：MEFV，NVK，TNFRSF 1A，NLRP 3，NOD 2，PSTPIP 1，两个是新的，LPIN 2和NLRP 7。目前，Infevers包含超过540个序列变体。最近设立了几个新的数据库功能。该网站现在接受机密数据和复杂的等位基因。对于每个基因，新创建的菜单提供：1）可以通过几个参数排序的变体的表格列表; 2）提供变体沿着基因的示意性表示的基因图; 3）根据基因中突变的表型、改变类型和位置的数据的统计分析; 4）每个基因的cDNA和gDNA序列，显示沿着序列的核苷酸变化，其中基于颜色的代码突出显示基因结构域、第一个ATG和终止密码子;以及5）“下载”菜单，使得所有表格和图可供用户使用，除了基因图之外，所有表格和图都在提交变体时自动生成和更新。最后，对整个数据库进行了整理，以符合HUGO基因命名委员会（HGNC）和HGVS命名指南，并在必要时提供了信息说明。Infevers已经被证明对科学界有用，2002年每月平均访问量为200次，2007年为800次，其新设计将导致对自体炎性序列变异进行更全面的比较分析和解释。
Infevers (Internet Fevers; http://fmf.igh.cnrs.fr/ISSAID/infevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued to evolve. This new version includes eight genes; six were already present: MEFV, NVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, and two are new, LPIN2 and NLRP7. Currently, Infevers contains over 540 sequence variants. Several new database functions were recently instituted. The website now accepts confidential data and complex alleles. For each gene, a newly created menu offers: 1) a tabular list of the variants that can be sorted by several parameters; 2) a gene graph providing a schematic representation of the variants along the gene; 3) statistical analysis of the data according to the phenotype, alteration type, and location of the mutation in the gene; 4) the cDNA and gDNA sequences of each gene, showing the nucleotide changes along the sequence, with a color-based code highlighting the gene domains, the first ATG, and the termination codon; and 5) a "download" menu making all tables and figures available for the users, which, except for the gene graphs, are all automatically generated and updated upon submission of the variants. Finally, the entire database was curated to comply with the HUGO Gene Nomenclature Committee (HGNC) and HGVS nomenclature guidelines, and wherever necessary, an informative note was provided. Infevers has already proven useful for the scientific community with a mean number of visits per month of 200 in 2002 and 800 in 2007, and its new design will lead to a more comprehensive comparative analysis and interpretation of auto, inflammatory sequence variants.