| Variant ID | 29160 |
|---|---|
| Entrez Gene ID | 23026 |
| Gene | MYO16 (GeneCards) |
| Location | hg19 13:109817311-109817311
hg38 13:109164963-109164963 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000013.10:g.109817311 G>A (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3803 |
| CADD Raw score (version 1.3) | 6.808259 (Deleterious) |
| FATHMM raw prediction score | 0.95029 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 0.99 (Deleterious) |
| MutatioinAssessor score | 2.255 (Deleterious) |
| PROVEAN score | -1.58 (Tolerated) |
| MetaSVM score | -0.271 (Tolerated) |
| MetaLR score | 0.365 (Tolerated) |
| MCAP score | 0.079 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.19 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.431 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.826 |
| Deleterious probability by iFish2 | 0.9962 (Deleterious) |
| Deleterious probability by DeFine | 0.968 (Deleterious) |
| Entrez Gene ID | 23026 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO16 (GeneCards) |
| Number of variants in MYO16 in this database | 16 (view all the variants) |
| Full name | myosin XVI |
| Band | 13q33.3 |
| Other IDs | OMIM: 615479 HGNC: HGNC:29822 Ensembl: ENSG00000041515 |
| Other names | MYR8, MYAP3, NYAP3, Myo16b, PPP1R107 |
| Summary | This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017] |
| Individual ID | 28503910.37 (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; |