| Variant ID | 13883 |
|---|---|
| Entrez Gene ID | 9060 |
| Gene | PAPSS2 (GeneCards) |
| Location | hg19 10:89465095-89465095
hg38 10:87705338-87705338 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.89465095 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2279 |
| CADD Raw score (version 1.3) | 0.716688 (Deleterious) |
| FATHMM raw prediction score | 0.23699 (Tolerated) |
| Deleterious probability by DeFine | 0.3891 (Neutral) |
| Entrez Gene ID | 9060 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAPSS2 (GeneCards) |
| Number of variants in PAPSS2 in this database | 1 (view all the variants) |
| Full name | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
| Band | 10q23.2-q23.31 |
| Other IDs | Vega: OTTHUMG00000018683 OMIM: 603005 HGNC: HGNC:8604 Ensembl: ENSG00000198682 |
| Other names | SK2, BCYM4, ATPSK2 |
| Summary | Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |