Variant Details for ASPSCR1
Basic Information Top
| Gene Symbol: | ASPSCR1 ( ASPCR1,ASPL,ASPS,FLJ45380,RCC17,TUG,UBXD9,UBXN9 ) |
|---|---|
| Gene Full Name: | alveolar soft part sarcoma chromosome region, candidate 1 |
| Band: | 17q25.3 |
| Quick Links | Entrez ID:79058; OMIM: 606236; Uniprot ID:ASPC1_HUMAN; ENSEMBL ID: ENSG00000169696; HGNC ID: 13825 |
| 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 | 2 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000808 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Pinto, 2010 |
| AutCNV0004363 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 79954601 | A | T | Sanger sequencing | deleterious | 0.4791 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000044 | 17q25.3 | 17 | D17S784 | 1.67 | - | - | Auranen, 2002 |