| URL: | http://www.umd.be/CFTR/ |
| Full name: | UMD-CFTR |
| Description: | Using the generic software Universal Mutation Database (UMD®), we have developed the UMD-CFTR Knowledgebase to extensively annotate and analyse mutations, variations, haplotypes, complex alleles, genotypes identified in patients by expert laboratories and associated phenotypes. It aims at making the information readily accessible to anyone interested in the genetic variation of the CFTR gene, and at providing an easy way for those who investigate these variations to share information. At least 1700 CFTR sequence variations have been described so far (www.genet.sickkids.on.ca/cftr/); some are rare or unique and their clinical significance is unclear, particularly for missense mutations and potential mRNA splicing defects. To predict their pathogenic effect, the UMD-CFTR provides various bioinformatics tools including SSF (Splicing Sequence Finder), SIFT (Sorting Intolerant from Tolerant, blocks.fhcrc.org/sift/SIFT.html), conservation data and UMD predictor. |
| Year founded: | 2010 |
| Last update: | 2013-08-27 |
| Version: | v1.0 |
| Accessibility: |
Accessible
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| Country/Region: | France |
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| University/Institution: | Hospital Arnaud-De-Villeneuve |
| Address: | CHRU de Montpellier, 371 Av. du Doyen Gaston Giraud, 34090 Montpellie |
| City: | Montpellier |
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| Country/Region: | France |
| Contact name (PI/Team): | Mireille Claustres |
| Contact email (PI/Helpdesk): | mireille.claustres@inserm.fr |
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UMD-CFTR: a database dedicated to CF and CFTR-related disorders. [PMID: 20607857]
With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. CF and particularly CFTR-RD provide a particular challenge because of many unclassified variants and identical genotypes associated with different phenotypes. Using the Universal Mutation Database (UMD) software we have constructed UMD-CFTR (freely available at the URL: http://www.umd.be/CFTR/), the first comprehensive relational CFTR database that allows an in-depth analysis and annotation of all variations identified in individuals whose CFTR genes have been analyzed extensively. The system has been tested on the molecular data from 757 patients (540 CF and 217 CBAVD) including disease-causing, unclassified, and nonpathogenic alterations (301 different sequence variations) representing 3,973 entries. Tools are provided to assess the pathogenicity of mutations. UMD-CFTR also offers a number of query tools and graphical views providing instant access to the list of mutations, their frequencies, positions and predicted consequences, or correlations between genotypes, haplotypes, and phenotypes. UMD-CFTR offers a way to compile not only disease-causing genotypes but also haplotypes. It will help the CFTR scientific and medical communities to improve sequence variation interpretation, evaluate the putative influence of haplotypes on mutations, and correlate molecular data with phenotypes. Copyright 2010 Wiley-Liss, Inc. |