| Variant ID | 29418 |
|---|---|
| Entrez Gene ID | 9774 |
| Gene | BCLAF1 (GeneCards) |
| Location | hg19 6:136597334-136597334
hg38 6:136276196-136276196 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.136597334 T>G (Genome Assembly: hg19) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5655 |
| CADD Raw score (version 1.3) | 0.360196 (Deleterious) |
| FATHMM raw prediction score | 0.91138 (Tolerated) |
| Deleterious probability by DeFine | 0.9394 (Deleterious) |
| Entrez Gene ID | 9774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCLAF1 (GeneCards) |
| Number of variants in BCLAF1 in this database | 2 (view all the variants) |
| Full name | BCL2 associated transcription factor 1 |
| Band | 6q23.3 |
| Other IDs | Vega: OTTHUMG00000033323 OMIM: 612588 HGNC: HGNC:16863 Ensembl: ENSG00000029363 |
| Other names | BTF, bK211L9.1 |
| Summary | This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.94 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |