| Variant ID | 8686 |
|---|---|
| Entrez Gene ID | 23262 |
| Gene | PPIP5K2 (GeneCards) |
| Location | hg19 5:102495531-102495531
hg38 5:103159827-103159827 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.102495531 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1273 |
| CADD Raw score (version 1.3) | -0.27198 (Deleterious) |
| FATHMM raw prediction score | 0.12434 (Tolerated) |
| Deleterious probability by DeFine | 0.2901 (Neutral) |
| Entrez Gene ID | 23262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPIP5K2 (GeneCards) |
| Number of variants in PPIP5K2 in this database | 2 (view all the variants) |
| Full name | diphosphoinositol pentakisphosphate kinase 2 |
| Band | 5q21.1 |
| Other IDs | Vega: OTTHUMG00000181461 OMIM: 611648 HGNC: HGNC:29035 Ensembl: ENSG00000145725 |
| Other names | VIP2, IP7K2, CFAP160, HISPPD1 |
| Summary | This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016] |
| 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; |