| Variant ID | 29809 |
|---|---|
| Entrez Gene ID | 51412 |
| Gene | ACTL6B (GeneCards) |
| Location | hg19 7:100252651-100252651
hg38 7:100655028-100655028 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.100252651 G>A (Genome Assembly: hg19) |
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4749 |
| CADD Raw score (version 1.3) | 0.320512 (Deleterious) |
| FATHMM raw prediction score | 0.10285 (Tolerated) |
| Deleterious probability by DeFine | 0.9238 (Deleterious) |
| Entrez Gene ID | 51412 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ACTL6B (GeneCards) |
| Number of variants in ACTL6B in this database | 3 (view all the variants) |
| Full name | actin like 6B |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000159661 OMIM: 612458 HGNC: HGNC:160 Ensembl: ENSG00000077080 |
| Other names | ACTL6, BAF53B, arpNalpha |
| Summary | The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 28867142.44 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |