| Variant ID | 29713 |
|---|---|
| Entrez Gene ID | 23032 |
| Gene | USP33 (GeneCards) |
| Location | hg19 1:78163012-78163012
hg38 1:77697327-77697327 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.78163012 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.521 |
| CADD Raw score (version 1.3) | 7.07166 (Deleterious) |
| FATHMM raw prediction score | 0.95024 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0.101 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.625 (Tolerated) |
| PROVEAN score | -0.7 (Tolerated) |
| MetaSVM score | -1.14 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.96 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.65 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.506 |
| Deleterious probability by iFish2 | 0.0906 (Neutral) |
| Deleterious probability by DeFine | 0.949 (Deleterious) |
| Entrez Gene ID | 23032 (NCBI Gene) |
|---|---|
| Official Gene Symbol | USP33 (GeneCards) |
| Number of variants in USP33 in this database | 2 (view all the variants) |
| Full name | ubiquitin specific peptidase 33 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009651 OMIM: 615146 HGNC: HGNC:20059 Ensembl: ENSG00000077254 |
| Other names | VDU1 |
| Summary | This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] |
| Individual ID | 28867142.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |