 |
BCOR |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- BCOR (HGNC:20893) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- BCL6 corepressor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ20285, KIAA1575
- %HI
- 16.71(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:39910499-40036582 NCBI Ensembl UCSC GRCh38/hg38: chrX:40051246-40177329 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001123385.2 ENST00000378444.9 (Read more about MANE Select)
- Function
- Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA- binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cell... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- microphthalmia, syndromic 2 Monarch
-
PUBMED:
19367324
Hilton et al. (2009) performed BCOR mutation analysis in patients with oculofacialcardiodental syndrome (OFCD), Lenz microphthalmia syndrome, isolated ocular anomalies, and isolated cardiac laterality defects and provide a review of the literature. Amongst those with OFCD, several novel nonsense, frameshift, and intragenic deletions were detected. Only a single missense mutation was identified in an individual with Lenz microphthalmia, and no mutations were identified amongst those with isolated cardiac laterality defects.
-
PUBMED:
15770227
Horn et al. (2005) report two frameshift mutations and one deletion amongst three unrelated female patients with oculofacialcardiodental syndrome (OFCD). The deletion was found to be de novo and thought to be at least 60kb in size, removing at least exons 2-15 of the BCOR gene.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
