| Variant ID | 6214 |
|---|---|
| Entrez Gene ID | 166815 |
| Gene | TIGD2 (GeneCards) |
| Location | hg19 4:90115485-90115485
hg38 4:89194334-89194334 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.90115485 A>G (Genome Assembly: GRCh37) |
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2223 |
| CADD Raw score (version 1.3) | 0.256491 (Deleterious) |
| FATHMM raw prediction score | 0.46778 (Tolerated) |
| Deleterious probability by DeFine | 0.2244 (Neutral) |
| 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 | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |