| Variant ID | 29282 |
|---|---|
| Entrez Gene ID | 604 |
| Gene | BCL6 (GeneCards) |
| Location | hg19 3:187446290-187446290
hg38 3:187728502-187728502 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.187446290 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.1588 |
| CADD Raw score (version 1.3) | -0.151081 (Deleterious) |
| FATHMM raw prediction score | 0.26042 (Tolerated) |
| Deleterious probability by DeFine | 0.7894 (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 | 28503910.159 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |