DUX4 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol DUX4
Gene name double homeobox 4
Chromosome 4
Chromosomal band q35.2
Imprinted Not imprinted
Genomic reference NG_034189.1
Transcript reference NM_033178.2
Exon/intron information NM_033178.2 exon/intron table
Associated with diseases FSHD-1, FSHD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Richard Lemmers
Total number of public variants reported 375
Unique public DNA variants reported 29
Individuals with public variants 170
Hidden variants 31
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created November 12, 2012
Date last updated December 04, 2015
Version DUX4:151204

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_033178.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/DUX4
HGNC 3082
Entrez Gene 22947
PubMed articles DUX4
OMIM - Gene 606009
OMIM - Diseases FSHD-1 (dystrophy, muscular, facioscapulohumeral, type 1 (FSHD-1))
FSHD-2 (dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2))
GeneCards DUX4
GeneTests DUX4

Active transcripts




NCBI ID     

NCBI Protein ID     

00001728 4 double homeobox 4 NM_033178.2 NP_149418.3 375

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 © 2012-2018. 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.