GLE1 gene homepage

General information
Gene symbol GLE1
Gene name GLE1 RNA export mediator homolog (yeast)
Chromosome 9
Chromosomal band q34.13
Imprinted Not imprinted
Genomic reference NG_012073.1
Transcript reference NM_001003722.1
Associated with diseases ALS, LAAHD, LCCS-1, arthrogryposis, congenital
Citation reference(s) Nousiainen et al. 2008
Refseq URL Coding DNA reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 11
Unique public DNA variants reported 9
Individuals with public variants 7
Hidden variants 0
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created April 29, 2010
Date last updated May 05, 2017
Version GLE1:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/GLE1
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 4315
Entrez Gene 2733
PubMed articles GLE1
OMIM - Gene 603371
OMIM - Diseases LAAHD (arthrogryposis, lethal, with anterior horn cell disease (LAAHD))
LCCS-1 (contracture syndrome, lethal, congenital, type 1 (LCCS-1))
HGMD GLE1
GeneCards GLE1
GeneTests GLE1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000247 9 transcript variant 1 NM_001003722.1 NP_001003722.1 11


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 © 2010-2017. 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.