| Variant ID | 10288 |
|---|---|
| Entrez Gene ID | 117283 |
| Gene | IP6K3 (GeneCards) |
| Location | hg19 6:33722657-33722657
hg38 6:33754880-33754880 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.33722657 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2057 |
| CADD Raw score (version 1.3) | 0.120668 (Deleterious) |
| FATHMM raw prediction score | 0.13736 (Tolerated) |
| Deleterious probability by DeFine | 0.5026 (Deleterious) |
| Entrez Gene ID | 117283 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IP6K3 (GeneCards) |
| Number of variants in IP6K3 in this database | 4 (view all the variants) |
| Full name | inositol hexakisphosphate kinase 3 |
| Band | 6p21.31 |
| Other IDs | Vega: OTTHUMG00000014531 OMIM: 606993 HGNC: HGNC:17269 Ensembl: ENSG00000161896 |
| Other names | IHPK3, INSP6K3 |
| Summary | This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 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; |