Variant Details for PDSS2
Basic Information Top
| Gene Symbol: | PDSS2 ( C6orf210,DLP1,bA59I9.3,hDLP1 ) |
|---|---|
| Gene Full Name: | prenyl (decaprenyl) diphosphate synthase, subunit 2 |
| Band: | 6q21 |
| Quick Links | Entrez ID:57107; OMIM: 610564; Uniprot ID:DLP1_HUMAN; ENSEMBL ID: ENSG00000164494; HGNC ID: 23041 |
| 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 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000075 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
| AutCNV0000021 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
| AutCNV0003922 | 6 | 6q21 | 107492201 | 107667496 | 175295 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | Nilsson D, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||