| Variant ID | 2701 |
|---|---|
| Entrez Gene ID | 23032 |
| Gene | USP33 (GeneCards) |
| Location | hg19 1:78224913-78224913
hg38 1:77759228-77759228 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.78224913 G>A (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.05 |
| CADD Raw score (version 1.3) | 0.950984 (Deleterious) |
| FATHMM raw prediction score | 0.82292 (Tolerated) |
| Deleterious probability by DeFine | 0.7829 (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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |