Variant Details for PCSK2
Basic Information Top
| Gene Symbol: | PCSK2 ( NEC2,PC2,SPC2 ) |
|---|---|
| Gene Full Name: | proprotein convertase subtilisin/kexin type 2 |
| Band: | 20p12.1 |
| Quick Links | Entrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744 |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000295 | 20 | 20p11.22-11.23 | 16139053 | 17517220 | 1378167 | loss | external link | Michaelis, 1997 |
| AutCNV0000651 | 20 | 20p12.1 | 17258801 | 17608784 | 349983 | loss | external link | Gregory, 2009 |
| AutCNV0003427 | 20 | 20p12.1 | 16695386 | 17279522 | 584136 | gain | external link | Gai, 2011 |
| AutCNV0003426 | 20 | 20p12.1 | 16668603 | 17279522 | 610919 | 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 | 17462427 | C | T | Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||