Variant Details for LSG1
Basic Information Top
| Gene Symbol: | LSG1 ( FLJ11301,FLJ27294 ) |
|---|---|
| Gene Full Name: | large subunit GTPase 1 homolog (S. cerevisiae) |
| Band: | 3q29 |
| Quick Links | Entrez ID:55341; OMIM: 610780; Uniprot ID:LSG1_HUMAN; ENSEMBL ID: ENSG00000041802; HGNC ID: 25652 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003537 | 3 | 3q29 | 194366007 | 194500372 | 134365 | gain | external link | Gai, 2011 |
| AutCNV0000716 | 3 | 3q27.2-q29 | 184984300 | 196342422 | 11358122 | loss | external link | Bremer, 2011 |
| AutCNV0005123 | 7 | 7p22.3 | 2076135 | 2207938 | 131803 | loss | external link | Farach LS, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 194386345 | C | T | Chen R, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |