The EYS gene homepage

This database is one of the "Eye disease" gene variant databases. When using this database, please refer to Messchaert et al. 2018.
General information
Gene symbol EYS
Gene name eyes shut homolog (Drosophila)
Chromosome 6
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_023443.2
Transcript reference NM_001142800.1
Exon/intron information NM_001142800.1 exon/intron table
Associated with diseases RP, RP25
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rob W.J. Collin
Total number of public variants reported 2541
Unique public DNA variants reported 896
Individuals with public variants 13727
Hidden variants 136
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 13, 2012
Date last updated April 19, 2024
Version EYS:240419

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_001142800.1.
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 http://www.LOVD.nl/EYS
HGNC 21555
Entrez Gene 346007
PubMed articles EYS
OMIM - Gene 612424
OMIM - Diseases RP (retinitis pigmentosa (RP))
RP25 (retinitis pigmentosa, type 25 (RP25))
HGMD EYS
GeneCards EYS
GeneTests EYS
Orphanet EYS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007329 6 transcript variant 1 NM_001142800.1 NP_001136272.1 2541


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.