The 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_001123383.1, NM_001123384.1, NM_001123385.1, NM_017745.5, XM_005272616.1, XM_005272617.2, XM_005272618.1, XM_005272619.2, XM_005272620.2
Associated with diseases ID, MCOPS-1, MCOPS-2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 49
Unique public DNA variants reported 7
Individuals with public variants 18
Hidden variants 18
Date created November 30, -0001
Date last updated September 23, 2016
Version BCOR:160923

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020814 X transcript variant 4 NM_001123384.1 NP_001116856.1 49
00020815 X transcript variant 3 NM_001123383.1 NP_001116855.1 49
00020816 X transcript variant 1 NM_017745.5 NP_060215.4 49
00020817 X transcript variant 5 NM_001123385.1 NP_001116857.1 49
00048327 X transcript variant X5 XM_005272620.2 XP_005272677.1 -
00048328 X transcript variant X4 XM_005272619.2 XP_005272676.1 -
00048329 X transcript variant X2 XM_005272617.2 XP_005272674.1 -
00048330 X transcript variant X3 XM_005272618.1 XP_005272675.1 -
00048331 X transcript variant X1 XM_005272616.1 XP_005272673.1 -