| Variant ID | 29763 |
|---|---|
| Entrez Gene ID | 54790 |
| Gene | TET2 (GeneCards) |
| Location | hg19 4:106180819-106180819
hg38 4:105259662-105259662 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.106180819 G>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9285 |
| CADD Raw score (version 1.3) | 6.238625 (Deleterious) |
| FATHMM raw prediction score | 0.98989 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.66 (Deleterious) |
| PROVEAN score | -2.67 (Deleterious) |
| MetaSVM score | -1.02 (Tolerated) |
| MetaLR score | 0.08 (Tolerated) |
| MCAP score | 0.12 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.823 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.332 |
| Deleterious probability by iFish2 | 0.9332 (Deleterious) |
| Deleterious probability by DeFine | 0.9489 (Deleterious) |
| Entrez Gene ID | 54790 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TET2 (GeneCards) |
| Number of variants in TET2 in this database | 12 (view all the variants) |
| Full name | tet methylcytosine dioxygenase 2 |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000131213 OMIM: 612839 HGNC: HGNC:25941 Ensembl: ENSG00000168769 |
| Other names | MDS, KIAA1546 |
| Summary | The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] |
| Individual ID | 28867142.33 (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; |