View EYA1 gene homepage

General information
Gene symbol EYA1
Gene name EYA transcriptional coactivator and phosphatase 1
Chromosome 8
Chromosomal band q13.3
Imprinted Not imprinted
Genomic reference NG_011735.2
Transcript reference NM_000503.5, NM_001288574.1, NM_001288575.1, NM_172058.3, NM_172059.3, NM_172060.3, XM_011517481.1, XM_011517482.1, XM_011517483.1, XM_011517484.1, XM_011517485.1, XM_011517486.1, XM_011517487.1, XM_011517488.1, XM_011517489.1, XM_011517490.1, XM_011517491.1, XM_011517492.1
Associated with diseases BOR1
Citation reference(s) -
Curators (3) Savvas Nikolaou, Carsten W Lederer and Anastasia Raoukka
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 17, 2016
Date last updated June 24, 2016
Version EYA1:160624

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
HGNC 3519
Entrez Gene 2138
PubMed articles EYA1
OMIM - Gene 601653
OMIM - Diseases BOR1 (Branchiootorenal Syndrome 1)
HGMD EYA1
GeneCards EYA1
GeneTests EYA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000043 8 transcript variant EYA1C NM_000503.5 NP_000494.2 1
00000039 8 transcript variant 5 NM_001288574.1 NP_001275503.1 0
00000040 8 transcript variant 6 NM_001288575.1 NP_001275504.1 0
00000041 8 transcript variant EYA1A NM_172060.3 NP_742057.1 0
00000042 8 transcript variant EYA1B NM_172058.3 NP_742055.1 0
00000044 8 transcript variant EYA1D NM_172059.3 NP_742056.1 0
00000045 8 transcript variant X1 XM_011517481.1 XP_011515783.1 0
00000046 8 transcript variant X10 XM_011517490.1 XP_011515792.1 0
00000047 8 transcript variant X11 XM_011517491.1 XP_011515793.1 0
00000048 8 transcript variant X12 XM_011517492.1 XP_011515794.1 0
00000049 8 transcript variant X2 XM_011517482.1 XP_011515784.1 0
00000050 8 transcript variant X3 XM_011517483.1 XP_011515785.1 0
00000051 8 transcript variant X4 XM_011517484.1 XP_011515786.1 0
00000052 8 transcript variant X5 XM_011517485.1 XP_011515787.1 0
00000053 8 transcript variant X6 XM_011517486.1 XP_011515788.1 0
00000054 8 transcript variant X7 XM_011517487.1 XP_011515789.1 0
00000055 8 transcript variant X8 XM_011517488.1 XP_011515790.1 0
00000056 8 transcript variant X9 XM_011517489.1 XP_011515791.1 0


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 © 2016-2017. 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.