Variant Details for VPS13B
Basic Information Top
| Gene Symbol: | VPS13B ( CHS1,COH1,DKFZp313I0811,KIAA0532 ) |
|---|---|
| Gene Full Name: | vacuolar protein sorting 13 homolog B (yeast) |
| Band: | 8q22.2 |
| Quick Links | Entrez ID:157680; OMIM: 607817; Uniprot ID:VP13B_HUMAN; ENSEMBL ID: ENSG00000132549; HGNC ID: 2183 |
| 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 | 5 | 1 | 3 | 1 | 0 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001911 | 8 | 8q22.2 | 100541529 | 100638489 | 96960 | loss | external link | Pinto, 2010 |
| AutCNV0001910 | 8 | 8q22.2 | 100307349 | 100342614 | 35265 | loss | external link | Pinto, 2010 |
| AutCNV0001909 | 8 | 8q22.2 | 100307349 | 100342614 | 35265 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 100168821 | G | A | PCR and MiSeq | Iossifov I, 2012 | ||||
| 8 | 100479648 | C | T | PCR or Sanger sequencing | deleterious | 0.9061 | Iossifov I, 2014 | ||
| 8 | 100583075 | T | A | strong | Iossifov I, 2014 | ||||
| 8 | 100029718 | T | G | Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 100264851 | G | T | Sanger and Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 8 | 100791009 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 100832259 | A | G | Y | Cukier HN, 2014 | ||||
| 8 | 100833547 | G | A | Kalsner L, 2018 | |||||
| 8 | 100388296 | - | C | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 100866155 | p.Pro5Leu | Ionita-Laza I, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||