| Variant ID | 5316 |
|---|---|
| Entrez Gene ID | 604 |
| Gene | BCL6 (GeneCards) |
| Location | hg19 3:187755823-187755823
hg38 3:188038035-188038035 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.187755823 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4207 |
| CADD Raw score (version 1.3) | 1.012652 (Deleterious) |
| FATHMM raw prediction score | 0.20595 (Tolerated) |
| Deleterious probability by DeFine | 0.6679 (Deleterious) |
| Entrez Gene ID | 604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCL6 (GeneCards) |
| Number of variants in BCL6 in this database | 4 (view all the variants) |
| Full name | B cell CLL/lymphoma 6 |
| Band | 3q27.3 |
| Other IDs | Vega: OTTHUMG00000156441 OMIM: 109565 HGNC: HGNC:1001 Ensembl: ENSG00000113916 |
| Other names | BCL5, LAZ3, BCL6A, ZNF51, ZBTB27 |
| Summary | The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |