View CEP290 gene homepage

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
General information
Gene symbol CEP290
Gene name centrosomal protein 290kDa
Chromosome 12
Chromosomal band q21.33
Imprinted Unknown
Genomic reference NG_008417.1
Transcript reference NM_025114.3
Exon/intron information NM_025114.3
Associated with diseases BBS-14, ID, JBTS-1, JBTS-5, LCA-10, MKS-4, SLSN-6
Citation reference(s) Baala 2007
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 186
Unique public DNA variants reported 149
Individuals with public variants 405
Hidden variants 4
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 April 29, 2010
Date last updated February 04, 2017
Version CEP290:170204

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
Homepage URL http://www.LOVD.nl/CEP290
External URL Orphanet
CEP290 database Gent
HGNC 29021
Entrez Gene 80184
PubMed articles CEP290
OMIM - Gene 610142
OMIM - Diseases BBS-14 (Bardet-Biedl syndrome?, type 14 (BBS-14))
JBTS-1 (Joubert syndrome, type 1 (JBTS-1))
JBTS-5 (Joubert syndrome, type 5 (JBTS-5))
LCA-10 (Leber congenital amaurosis, type 10 (LCA-10))
MKS-4 (Meckel syndrome, type 4 (MKS-4))
SLSN-6 (Senior-Loken syndrome, type 6 (SLSN-6))
HGMD CEP290
GeneCards CEP290
GeneTests CEP290


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000021 12 centrosomal protein 290kDa NM_025114.3 NP_079390.3 186


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 © 2010-2017. 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.