LOVD FANCJ homepage

General information
Gene name BRCA1 interacting protein C-terminal helicase 1 (BRIP1)
Gene symbol FANCJ
Chromosome Location 17q22.2
Database location chromium.liacs.nl
Curator Arleen Auerbach
PubMed references View all (unique) PubMed references in the FANCJ database
Date of creation January 08, 2007
Last update May 17, 2014
Version FANCJ140517
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007409.2
Transcript refseq ID NM_032043.2
Total number of unique DNA variants reported 13
Total number of individuals with variant(s) 28
Total number of variants reported 56
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NOTE Reference sequence NG_007409.2 is identical to LRG_300.
This database contains only BRIP1 variants related to Fanconi Anemia. For other variants see the BRIP1 gene variant database

Graphical displays and utilities
Summary tables Summary of all sequence variants in the FANCJ database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the FANCJ database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FANCJ database
Variants with no known pathogenicity Listing of all FANCJ variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search 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.

Links to other resources
Homepage http://www.rockefeller.edu/fanconi/mutate/jumpj.php
HGNC 20473
Entrez Gene 83990
OMIM - Gene 605882
OMIM - Disease Fanconi anemia, complementation group J (FANCJ)
UniProtKB (SwissProt/TrEMBL) Q9BX63
HGMD FANCJ
GeneCards FANCJ
GeneTests FANCJ
External link #1 BRIP1 gene variant database
External link #2 Orphanet

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.