| Variant ID | 21545 |
|---|---|
| Entrez Gene ID | 55617 |
| Gene | TASP1 (GeneCards) |
| Location | hg19 20:13378364-13378364
hg38 20:13397717-13397717 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.13378364 T>C (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1171 |
| CADD Raw score (version 1.3) | -0.473721 (Deleterious) |
| FATHMM raw prediction score | 0.1466 (Tolerated) |
| Deleterious probability by DeFine | 0.6968 (Deleterious) |
| Entrez Gene ID | 55617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TASP1 (GeneCards) |
| Number of variants in TASP1 in this database | 3 (view all the variants) |
| Full name | taspase 1 |
| Band | 20p12.1 |
| Other IDs | Vega: OTTHUMG00000031904 OMIM: 608270 HGNC: HGNC:15859 Ensembl: ENSG00000089123 |
| Other names | C20orf13, dJ585I14.2 |
| Summary | This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |