| Variant ID | 29055 |
|---|---|
| Entrez Gene ID | 54880 |
| Gene | BCOR (GeneCards) |
| Location | hg19 X:39989104-39989104
hg38 X:40129851-40129851 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.39989104 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.403233 (Deleterious) |
| FATHMM raw prediction score | 0.07142 (Tolerated) |
| Deleterious probability by DeFine | 0.4143 (Neutral) |
| Entrez Gene ID | 54880 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCOR (GeneCards) |
| Number of variants in BCOR in this database | 2 (view all the variants) |
| Full name | BCL6 corepressor |
| Band | Xp11.4 |
| Other IDs | Vega: OTTHUMG00000024100 OMIM: 300485 HGNC: HGNC:20893 Ensembl: ENSG00000183337 |
| Other names | MAA2, ANOP2, MCOPS2 |
| Summary | The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |