USP9X gene homepage

General information
Gene symbol USP9X
Gene name ubiquitin specific peptidase 9, X-linked
Chromosome X
Chromosomal band p11.4
Imprinted Unknown
Genomic reference NG_012547.1
Transcript reference NM_001039590.2
Exon/intron information NM_001039590.2 exon/intron table
Associated with diseases MRX-99
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 104
Unique public DNA variants reported 85
Individuals with public variants 16
Hidden variants 2
Notes The work leading to the establishment of this LSDB was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The USP9X database was 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.
Date created March 06, 2009
Date last updated July 12, 2019
Version USP9X:190712

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_001039590.2.
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/USPX9
External URL Orphanet
HGNC 12632
Entrez Gene 8239
PubMed articles USP9X
OMIM - Gene 300072
OMIM - Diseases MRX-99 (mental retardation, X-linked, type 99 (MRX-99))
HGMD USP9X
GeneCards USP9X
GeneTests USP9X


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000308 X transcript variant 3 NM_001039590.2 NP_001034679.2 104


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 © 2009-2019. 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.