| Variant ID | 29760 |
|---|---|
| Entrez Gene ID | 166815 |
| Gene | TIGD2 (GeneCards) |
| Location | hg19 4:90034383-90034383
hg38 4:89113232-89113232 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.90034383 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 | 0.7321 |
| CADD Raw score (version 1.3) | 5.503141 (Deleterious) |
| FATHMM raw prediction score | 0.90929 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.84 (Deleterious) |
| PROVEAN score | -11.38 (Deleterious) |
| MetaSVM score | 0.079 (Deleterious) |
| MetaLR score | 0.473 (Tolerated) |
| MCAP score | 0.202 (Deleterious) |
| FitCons score | 0.653 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.732 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.43 |
| Deleterious probability by iFish2 | 0.9711 (Deleterious) |
| Deleterious probability by DeFine | 0.929 (Deleterious) |
| Entrez Gene ID | 166815 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TIGD2 (GeneCards) |
| Number of variants in TIGD2 in this database | 3 (view all the variants) |
| Full name | tigger transposable element derived 2 |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000130946 OMIM: 612973 HGNC: HGNC:18333 Ensembl: ENSG00000180346 |
| Other names | HEL106 |
| Summary | The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.32 (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; |