| Variant ID | 1188 |
|---|---|
| Entrez Gene ID | 54880 |
| Gene | BCOR (GeneCards) |
| Location | hg19 X:39914677-39914677
hg38 X:40055424-40055424 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.39914677 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1562 |
| Amino acid changes in protein | S > * |
| Position in cDNA | 4685 |
| Changes in cDNA | C > G |
| mRNA accession | NM_001123383.1 |
| mRNA length | 6405 |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3670286 |
| Variant occurences in COSMIC | 1(central_nervous_system) |
| CADD Raw score (version 1.3) | 15.716672 (Deleterious) |
| FATHMM raw prediction score | 0.97489 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.602 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.469 |
| Deleterious probability by DeFine | 0.8809 (Deleterious) |
| 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 | 28699658.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |