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The infevers autoinflammatory mutation online registry: update with new genes and functions.

机译：感染自发炎性突变在线注册表：使用新的基因和功能进行更新。

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摘要

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, MVK, 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.
机译：Infevers（Internet Fevers; http：//fmf.igh.cnrs.fr/ISSAID/infevers）是一个致力于遗传性自发炎疾病突变的网站，成立于2002年，并且一直在不断发展。这个新版本包括八个基因。已经存在六个：MEFV，MVK，TNFRSF1A，NLRP3，NOD2，PSTPIP1，另外两个是LPIN2和NLRP7。目前，Infevers包含540多个序列变体。最近建立了一些新的数据库功能。该网站现在接受机密数据和复杂等位基因。对于每个基因，新创建的菜单提供：1）可以按几个参数排序的变体列表。 2）基因图，提供了沿基因的变异体的示意图; 3）根据表型，改变类型和基因中突变的位置对数据进行统计分析; 4）每个基因的cDNA和gDNA序列，显示沿序列的核苷酸变化，并带有基于颜色的代码，突出显示基因域，第一个ATG和终止密码子; 5）“下载”菜单，使所有表格和图形可供用户使用，除基因图外，所有表格和数字均在提交变体后自动生成并更新。最后，整理整个数据库以符合HUGO基因命名委员会（HGNC）和HGVS命名规则，并在必要时提供了说明性注释。事实已经证明，感染者对科学界有用，2002年每月平均访问200次，2007年每月平均访问800次，其新设计将导致对自身炎症序列变体进行更全面的比较分析和解释。

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