| Variant ID | 19210 |
|---|---|
| Entrez Gene ID | 161725 |
| Gene | OTUD7A (GeneCards) |
| Location | hg19 15:32317399-32317399
hg38 15:32025196-32025196 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.32317399 A>T (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1227 |
| CADD Raw score (version 1.3) | 0.215064 (Deleterious) |
| FATHMM raw prediction score | 0.1453 (Tolerated) |
| Deleterious probability by DeFine | 0.2248 (Neutral) |
| Entrez Gene ID | 161725 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OTUD7A (GeneCards) |
| Number of variants in OTUD7A in this database | 4 (view all the variants) |
| Full name | OTU deubiquitinase 7A |
| Band | 15q13.3 |
| Other IDs | Vega: OTTHUMG00000129275 OMIM: 612024 HGNC: HGNC:20718 Ensembl: ENSG00000169918 |
| Other names | OTUD7, C15orf16, C16ORF15, CEZANNE2 |
| Summary | The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.16 (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; |