Variant Details for TARSL2
Basic Information Top
| Gene Symbol: | TARSL2 ( FLJ25005 ) |
|---|---|
| Gene Full Name: | threonyl-tRNA synthetase-like 2 |
| Band: | 15q26.3 |
| Quick Links | Entrez ID:123283; OMIM: NA; Uniprot ID:SYTC2_HUMAN; ENSEMBL ID: ENSG00000185418; HGNC ID: 24728 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 12 | 0 | 2 | 0 | 0 | 0 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000292 | 15 | 15q25-26.3 | 78312945 | 102521392 | 24208447 | gain | external link | Bonati, 2005 |
| AutCNV0000112 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000029 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0001142 | 15 | 15q26.3 | 102259543 | 102400037 | 140494 | gain | external link | Pinto, 2010 |
| AutCNV0002102 | 15 | 15q26.3 | 102223771 | 102305129 | 81358 | gain | external link | Pinto, 2010 |
| AutCNV0001338 | 15 | 15q26.3 | 102157654 | 102259543 | 101889 | gain | external link | Pinto, 2010 |
| AutCNV0001337 | 15 | 15q26.3 | 102028468 | 102288471 | 260003 | gain | external link | Pinto, 2010 |
| AutCNV0002889 | 15 | 15q26.3 | 102223771 | 102288471 | 64700 | gain | external link | Pinto, 2010 |
| AutCNV0004145 | 15 | 15q26.3 | 102035521 | 102274075 | 238554 | gain | external link | Levy, 2011 |
| AutCNV0003717 | 15 | 15q26.3 | 102025218 | 102273500 | 248282 | gain | external link | Gai, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 15 | 102245954 | C | T | mosaic | PASM | Dou Y, 2017 |
| 15 | 102242560 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||