Variant Details for SNX5
Basic Information Top
| Gene Symbol: | SNX5 ( FLJ10931 ) |
|---|---|
| Gene Full Name: | sorting nexin 5 |
| Band: | 20p11.23 |
| Quick Links | Entrez ID:27131; OMIM: 605937; Uniprot ID:SNX5_HUMAN; ENSEMBL ID: ENSG00000089006; HGNC ID: 14969 |
| 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 | 1 | 4 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003428 | 20 | 20p11.23 | 17870723 | 18115443 | 244720 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 17928186 | G | A | PCR and MiSeq | neutral | 0.0961 | Iossifov I, 2012 | ||
| 20 | 17923824 | T | C | c.1094A>G | p.Lys365Arg | Sanger sequencing | deleterious | 0.5007 | Jiang YH, 2013 |
| 20 | 17923824 | T | C | Sanger sequencing | deleterious | 0.5007 | Yuen RK, 2016 | ||
| 20 | 17923824 | c.A1094G | deleterious | 0.5007 | Jiang YH, 2013 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 20 | 17928186 | G | A | High-confidence mosaics | Resequencing | Lim ET, 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! | |||||||