The EYA1 gene homepage

General information
Gene symbol EYA1
Gene name eyes absent homolog 1 (Drosophila)
Chromosome 8
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_011735.3
Transcript reference NM_000503.4
Exon/intron information NM_000503.4 exon/intron table
Associated with diseases BOR1, BOS1, ID, OTFCS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 267
Unique public DNA variants reported 231
Individuals with public variants 217
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 26, 2024
Version EYA1:240226

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_000503.4.
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/EYA1
HGNC 3519
Entrez Gene 2138
PubMed articles EYA1
OMIM - Gene 601653
OMIM - Diseases BOR1 (branchiootorenal syndrome, with/without cataract, type 1 (BOR-1))
BOS1 (branchiootic syndrome, type 1 (BOS-1))
OTFCS (otofaciocervical syndrome (OTFCS))
HGMD EYA1
GeneCards EYA1
GeneTests EYA1
Orphanet EYA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025538 8 transcript variant 3 NM_000503.4 NP_000494.2 267


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 © 2013-2024. 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.