BCOR gene homepage

General information
Gene symbol BCOR
Gene name BCL6 corepressor
Chromosome X
Chromosomal band p11.4
Imprinted Unknown
Genomic reference NG_008880.1
Transcript reference NM_001123385.1
Exon/intron information NM_001123385.1 exon/intron table
Associated with diseases ID, MCOPS-1, MCOPS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 108
Unique public DNA variants reported 89
Individuals with public variants 194
Hidden variants 2
Date created September 13, 2012
Date last updated July 12, 2019
Version BCOR:190712

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_001123385.1.
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/BCOR
HGNC 20893
Entrez Gene 54880
PubMed articles BCOR
OMIM - Gene 300485
OMIM - Diseases MCOPS-1 (microphthalmia, syndromic, type 1 (MCOPS-1, Lenz microphthalmia syndrome))
MCOPS-2 (microphthalmia, syndromic, type 2 (MCOPS-2))
GeneCards BCOR
GeneTests BCOR

Active transcripts




NCBI ID     

NCBI Protein ID     

00023831 X transcript variant 5 NM_001123385.1 NP_001116857.1 108

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.