| Variant ID | 29903 |
|---|---|
| Entrez Gene ID | 8396 |
| Gene | PIP4K2B (GeneCards) |
| Location | hg19 17:36927464-36927464
hg38 17:38771211-38771211 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.36927464 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs114737539 |
| EIGEN score | 0.432 |
| CADD Raw score (version 1.3) | 6.341479 (Deleterious) |
| FATHMM raw prediction score | 0.99277 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.365 (Tolerated) |
| MetaSVM score | -1.059 (Tolerated) |
| MetaLR score | 0.089 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.568 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.743 |
| Deleterious probability by iFish2 | 0.8624 (Deleterious) |
| Deleterious probability by DeFine | 0.976 (Deleterious) |
| Entrez Gene ID | 8396 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIP4K2B (GeneCards) |
| Number of variants in PIP4K2B in this database | 1 (view all the variants) |
| Full name | phosphatidylinositol-5-phosphate 4-kinase type 2 beta |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000188504 OMIM: 603261 HGNC: HGNC:8998 Ensembl: ENSG00000276293 |
| Other names | PI5P4KB, PIP5K2B, PIP5KIIB, PIP5P4KB, PIP5KIIbeta |
| Summary | The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.20 (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; |