| Variant ID | 29378 |
|---|---|
| Entrez Gene ID | 93492 |
| Gene | TPTE2 (GeneCards) |
| Location | hg19 13:20006639-20006639
hg38 13:19432499-19432499 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000013.10:g.20006639 T>A (Genome Assembly: hg19) |
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.0007 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1128405 |
| Variant occurences in COSMIC | 1(prostate)|1(lung)|2(large_intestine) |
| EIGEN score | -0.1512 |
| CADD Raw score (version 1.3) | 3.866453 (Deleterious) |
| FATHMM raw prediction score | 0.03875 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.455 (Deleterious) |
| PROVEAN score | -5.78 (Deleterious) |
| MetaSVM score | -0.067 (Tolerated) |
| MetaLR score | 0.713 (Deleterious) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.75 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.52 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.628 |
| Deleterious probability by iFish2 | 0.34 (Neutral) |
| Deleterious probability by DeFine | 0.2922 (Neutral) |
| Entrez Gene ID | 93492 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPTE2 (GeneCards) |
| Number of variants in TPTE2 in this database | 1 (view all the variants) |
| Full name | transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 |
| Band | 13q12.11 |
| Other IDs | Vega: OTTHUMG00000016493 OMIM: 606791 HGNC: HGNC:17299 Ensembl: ENSG00000132958 |
| Other names | TPIP |
| Summary | TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002] |
| Individual ID | 28714951.54 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |