LOVD FANCQ homepage

General information
Gene name Excission repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4))
Gene symbol FANCQ
Chromosome Location 16p13.3
Database location chromium.liacs.nl
Curator Arleen Auerbach
PubMed references View all (unique) PubMed references in the FANCQ database
Date of creation June 04, 2013
Last update June 19, 2013
Version FANCQ130619
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_011442.1
Transcript refseq ID NM_005236.2
Total number of unique DNA variants reported 4
Total number of individuals with variant(s) 2
Total number of variants reported 4
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NOTE Reference sequence NG_011442.1 is identical to LRG_463.
This database contains only ERCC4 variants related to Fanconi Anemia. For other variants see the ERCC4 gene variant database

Graphical displays and utilities
Summary tables Summary of all sequence variants in the FANCQ 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 FANCQ database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FANCQ database
Variants with no known pathogenicity Listing of all FANCQ 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.LOVD.nl/FANCQ
HGNC 3436
Entrez Gene 2072
OMIM - Gene 133520
OMIM - Disease #1 Fanconi anemia, complementation group Q (FANCQ)
OMIM - Disease #2 xeroderma pigmentosum, group F (XP-F)
OMIM - Disease #3 XFE progeroid syndrome (XFEPS)
UniProtKB (SwissProt/TrEMBL) Q92889
HGMD FANCQ
GeneCards FANCQ
GeneTests FANCQ

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.