| Variant ID | 29783 |
|---|---|
| Entrez Gene ID | 117283 |
| Gene | IP6K3 (GeneCards) |
| Location | hg19 6:33694623-33694623
hg38 6:33726846-33726846 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.33694623 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.5219 |
| CADD Raw score (version 1.3) | 0.401236 (Deleterious) |
| FATHMM raw prediction score | 0.73005 (Tolerated) |
| Deleterious probability by DeFine | 0.8677 (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 | 28867142.37 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |