Variant Details for PCDH9
Basic Information Top
| Gene Symbol: | PCDH9 ( - ) |
|---|---|
| Gene Full Name: | protocadherin 9 |
| Band: | 13q21.32 |
| Quick Links | Entrez ID:5101; OMIM: 603581; Uniprot ID:PCDH9_HUMAN; ENSEMBL ID: ENSG00000184226; HGNC ID: 8661 |
| 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 | 11 | 0 | 0 | 0 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |
| AutCNV0000197 | 13 | 13q21.1-21.32 | 58692746 | 69244173 | 10551427 | gain | external link | Daniel, 2007 |
| AutCNV0000106 | 13 | 13q21.32 | 66222699 | 67053299 | 830600 | gain | external link | Szatmari, 2007 |
| AutCNV0000180 | 13 | 13q21.32 | 67589898 | 67762299 | 172401 | gain | external link | Marshall, 2008 |
| AutCNV0000179 | 13 | 13q21.32 | 67572850 | 67762288 | 189438 | gain | external link | Marshall, 2008 |
| AutCNV0002818 | 13 | 13q21.32 | 67069709 | 67325786 | 256077 | loss | external link | Pinto, 2010 |
| AutCNV0001126 | 13 | 13q21.32 | 67589937 | 67728051 | 138114 | gain | external link | Pinto, 2010 |
| AutCNV0003693 | 13 | 13q21.32 | 67504844 | 67520344 | 15500 | loss | external link | Gai, 2011 |
| AutCNV0004514 | 13 | 13q21.32 | 67362892 | 67407499 | 44607 | loss | external link | Nord, 2011 |
| AutCNV0003357 | 13 | 13q21.32 | 67297898 | 67344913 | 47015 | loss | external link | Gai, 2011 |
| AutCNV0004867 | 17 | 17q11.2 | 25974257 | 26075524 | 101267 | loss | external link | Moreira DP, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||