| Variant ID | 29338 |
|---|---|
| Entrez Gene ID | 6597 |
| Gene | SMARCA4 (GeneCards) |
| Location | hg19 19:11096936-11096936
hg38 19:10986260-10986260 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.11096936 C>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.415 |
| CADD Raw score (version 1.3) | 2.554106 (Deleterious) |
| FATHMM raw prediction score | 0.98078 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -3.39 (Deleterious) |
| MetaSVM score | 0.514 (Deleterious) |
| MetaLR score | 0.738 (Deleterious) |
| MCAP score | 0.606 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.33 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.088 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.779 |
| Deleterious probability by iFish2 | 0.0926 (Neutral) |
| Deleterious probability by DeFine | 0.9682 (Deleterious) |
| Entrez Gene ID | 6597 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMARCA4 (GeneCards) |
| Number of variants in SMARCA4 in this database | 2 (view all the variants) |
| Full name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000169272 OMIM: 603254 HGNC: HGNC:11100 Ensembl: ENSG00000127616 |
| Other names | BRG1, CSS4, SNF2, SWI2, MRD16, RTPS2, BAF190, SNF2L4, SNF2LB, hSNF2b, BAF190A |
| Summary | The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 28714951.14 (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; |