DLG3 gene homepage

General information
Gene symbol DLG3
Gene name discs, large homolog 3 (Drosophila)
Chromosome X
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_015849.1
Transcript reference NM_021120.3
Exon/intron information NM_021120.3 exon/intron table
Associated with diseases ID, MRX-90
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 52
Unique public DNA variants reported 33
Individuals with public variants 23
Hidden variants 0
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. The database was initiated associated with 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 May 01, 2012
Date last updated November 01, 2018
Version DLG3:181101

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_021120.3.
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/DLG3
External URL Orphanet
HGNC 2902
Entrez Gene 1741
PubMed articles DLG3
OMIM - Gene 300189
OMIM - Diseases MRX-90 (mental retardation, X-linked, type 90 (MRX-90))
HGMD DLG3
GeneCards DLG3
GeneTests DLG3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000007 X discs, large homolog 3 (Drosophila), transcript variant 1 NM_021120.3 NP_066943.2 52


Copyright & disclaimer
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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.