| Variant ID | 29394 |
|---|---|
| Entrez Gene ID | 7179 |
| Gene | TPTE (GeneCards) |
| Location | hg19 21:10914419-10914419
hg38 21:10598038-10598038 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.10914419 G>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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3549689 |
| Variant occurences in COSMIC | 1(skin)|1(prostate)|1(lung) |
| EIGEN score | -0.0939 |
| CADD Raw score (version 1.3) | 7.4596 (Deleterious) |
| FATHMM raw prediction score | 0.10752 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.048 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.742 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.196 |
| Deleterious probability by DeFine | 0.1429 (Neutral) |
| Entrez Gene ID | 7179 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPTE (GeneCards) |
| Number of variants in TPTE in this database | 1 (view all the variants) |
| Full name | transmembrane phosphatase with tensin homology |
| Band | 21p11.2 |
| Other IDs | Vega: OTTHUMG00000074127 OMIM: 604336 HGNC: HGNC:12023 Ensembl: ENSG00000274391 |
| Other names | CT44, PTEN2 |
| Summary | This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
| Individual ID | 28714951.70 (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; |