| Variant ID | 841 |
|---|---|
| Entrez Gene ID | 5718 |
| Gene | PSMD12 (GeneCards) |
| Location | hg19 17:65338372-65338372
hg38 17:67342256-67342256 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.65338372 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 364 |
| Amino acid changes in protein | R > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8763 |
| CADD Raw score (version 1.3) | 6.694961 (Deleterious) |
| FATHMM raw prediction score | 0.96937 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.52 (Deleterious) |
| PROVEAN score | -4.99 (Deleterious) |
| MetaSVM score | -0.407 (Tolerated) |
| MetaLR score | 0.276 (Tolerated) |
| MCAP score | 0.111 (Deleterious) |
| FitCons score | 0.745 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.52 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.471 |
| Deleterious probability by iFish2 | 0.6739 (Deleterious) |
| Deleterious probability by DeFine | 0.9534 (Deleterious) |
| Entrez Gene ID | 5718 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSMD12 (GeneCards) |
| Number of variants in PSMD12 in this database | 1 (view all the variants) |
| Full name | proteasome 26S subunit, non-ATPase 12 |
| Band | 17q24.2 |
| Other IDs | Vega: OTTHUMG00000140376 OMIM: 604450 HGNC: HGNC:9557 Ensembl: ENSG00000197170 |
| Other names | p55, Rpn5, STISS |
| 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 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |