||protein phosphatase, EF-hand calcium binding domain 1|
||Johan den Dunnen and LOVD-team, but with Curator vacancy|
||View all (unique) PubMed references in the PPEF1 database|
|Date of creation
||March 06, 2009|
||October 24, 2010|
|Add sequence variant
||Submit a sequence variant|
|First time submitters
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
|Subscribe to updates of this gene
||The gene sequence variant databases (LSDBs) at these pages have been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. For reasons of privacy, only summary data from this paper are present in the databases.|
Detailed haplotypes are available to researchers upon request, after signing a transfer agreement; contact Lucy Raymond (flr24 @ cam.ac.uk).
Although we have initiated these databases, they are too many to be regularly updated and curated by us. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl).
In the coming months we will try to update the databases by adding data retrieved from other public repositories (dbSNP, OMIM, literature, etc.).
In addition we will contact people that may have already established LSDBs for any of these genes and suggest joining efforts - we have no intention to duplicate work. Furthermore, we will invite researchers that we consider as potential curators - when you receive such a request, please give a positive reply!
The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
|Graphical displays and utilities|
||Summary of all sequence variants in the PPEF1 database, sorted by type of variant (with graphical displays and statistics)|
|Search the database|
|By type of variant
||View all sequence variants of a certain type|
||Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)|
||Query the database by selecting a combination of variables|
|Based on patient origin
||View all variants based on your patient origin search terms|
|Search through hidden entries
||Find the number of variant entries in the database (including hidden entries) matching your search terms.|