The 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
Exon/intron information NM_001003722.1 exon/intron table
Associated with diseases ALS, arthrogryposis, CAAHD, LCCS1
Citation reference(s) PubMed: Nousiainen 2008
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 85
Unique public DNA variants reported 25
Individuals with public variants 58
Hidden variants 2
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). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 29, 2010
Date last updated September 17, 2021
Version GLE1:210917

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_001003722.1.
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 https://www.LOVD.nl/GLE1
External URL Finnish Disease Database (FinDis)
HGNC 4315
Entrez Gene 2733
PubMed articles GLE1
OMIM - Gene 603371
OMIM - Diseases CAAHD (arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD))
LCCS1 (contracture syndrome, lethal, congenital, type 1 (LCCS1))
HGMD GLE1
GeneCards GLE1
GeneTests GLE1
Orphanet GLE1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000247 9 transcript variant 1 NM_001003722.1 NP_001003722.1 85


Copyright & disclaimer
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