| Variant ID | 14767 |
|---|---|
| Entrez Gene ID | 80019 |
| Gene | UBTD1 (GeneCards) |
| Location | hg19 10:99323766-99323766
hg38 10:97564009-97564009 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.99323766 C>G (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6826 |
| CADD Raw score (version 1.3) | -0.63287 (Deleterious) |
| FATHMM raw prediction score | 0.03848 (Tolerated) |
| Deleterious probability by DeFine | 0.15 (Neutral) |
| Entrez Gene ID | 80019 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBTD1 (GeneCards) |
| Number of variants in UBTD1 in this database | 1 (view all the variants) |
| Full name | ubiquitin domain containing 1 |
| Band | 10q24.1-q24.2 |
| Other IDs | Vega: OTTHUMG00000018856 OMIM: 616388 HGNC: HGNC:25683 Ensembl: ENSG00000165886 |
| Other names | None |
| Summary | The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014] |
| 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; |