| Variant ID | 29663 |
|---|---|
| Entrez Gene ID | 5714 |
| Gene | PSMD8 (GeneCards) |
| Location | hg19 19:38867064-38867064
hg38 19:38376424-38376424 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.38867064 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 | 0.1668 |
| CADD Raw score (version 1.3) | 3.719413 (Deleterious) |
| FATHMM raw prediction score | 0.97902 (Tolerated) |
| SIFT score | 0.029 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.3 (Deleterious) |
| PROVEAN score | -2.68 (Deleterious) |
| MetaSVM score | -0.629 (Tolerated) |
| MetaLR score | 0.241 (Tolerated) |
| MCAP score | 0.027 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.363 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.828 |
| Deleterious probability by iFish2 | 0.4678 (Deleterious) |
| Deleterious probability by DeFine | 0.9623 (Deleterious) |
| Entrez Gene ID | 5714 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSMD8 (GeneCards) |
| Number of variants in PSMD8 in this database | 1 (view all the variants) |
| Full name | proteasome 26S subunit, non-ATPase 8 |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000150691 OMIM: 617844 HGNC: HGNC:9566 Ensembl: ENSG00000099341 |
| Other names | S14, p31, HIP6, HYPF, Nin1p, Rpn12, HEL-S-91n |
| Summary | The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.339 (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; |