Variant Details for CPZ
Basic Information Top
| Gene Symbol: | CPZ ( MGC99682 ) |
|---|---|
| Gene Full Name: | carboxypeptidase Z |
| Band: | 4p16.1 |
| Quick Links | Entrez ID:8532; OMIM: 603105; Uniprot ID:CBPZ_HUMAN; ENSEMBL ID: ENSG00000109625,ENSG00000155269; HGNC ID: 2333 |
| 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 | 2 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000019 | 4 | 4p15.32-16.3 | 408952 | 17368531 | 16959579 | loss | external link | Szatmari, 2007 |
| AutCNV0000483 | 4 | 4p16.1 | 7959401 | 9499801 | 1540400 | loss | external link | Gregory, 2009 |
| AutCNV0003186 | 4 | 4p16.1 | 8522221 | 8611176 | 88955 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 8620162 | C | T | c.1477C>T | p.Arg493Trp | Sanger sequencing | neutral | 0.0953 | Sanders SJ, 2012 |
| 4 | 8620216 | C | T | Sanger sequencing | neutral | 0.0953 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 8613762 | G | T | Y | Cukier HN, 2014 |
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! | |||||||