The ARSE gene homepage

General information
Gene symbol ARSE
Gene name arylsulfatase E (chondrodysplasia punctata 1)
Chromosome X
Chromosomal band p22.33
Imprinted Unknown
Genomic reference NG_007091.1
Transcript reference NM_000047.2
Exon/intron information NM_000047.2 exon/intron table
Associated with diseases CPDX-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 167
Unique public DNA variants reported 85
Individuals with public variants 101
Hidden variants 8
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated September 15, 2020
Version ARSE:200915

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_000047.2.
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
External URL Orphanet
HGNC 719
Entrez Gene 415
PubMed articles ARSE
OMIM - Gene 300180
OMIM - Diseases CPDX-1 (chondrodysplasia punctata, type 1, X-linked recessive (CPDX-1))
GeneCards ARSE
GeneTests ARSE

Active transcripts




NCBI ID     

NCBI Protein ID     

00000540 X arylsulfatase E (chondrodysplasia punctata 1) NM_000047.2 NP_000038.2 167

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 © 2009-2020. 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.