Variant Details for PCDH15
Basic Information Top
| Gene Symbol: | PCDH15 ( CDHR15,DFNB23,DKFZp667A1711,USH1F ) |
|---|---|
| Gene Full Name: | protocadherin-related 15 |
| Band: | 10q21.1 |
| Quick Links | Entrez ID:65217; OMIM: 605514; Uniprot ID:PCD15_HUMAN; ENSEMBL ID: ENSG00000150275; HGNC ID: 14674 |
| 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 | 1 | 0 | 0 | 12 | 0 | 24 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000008 | 10 | 10q11.23-21.2 | 50892143 | 61808505 | 10916362 | gain | external link | Sebat, 2007 |
| AutCNV0001405 | 10 | 10q21.1 | 56595890 | 56691305 | 95415 | loss | external link | Pinto, 2010 |
| AutCNV0001288 | 10 | 10q21.1 | 56610715 | 56691305 | 80590 | loss | external link | Pinto, 2010 |
| AutCNV0002747 | 10 | 10q21.1 | 56610715 | 56714823 | 104108 | loss | external link | Pinto, 2010 |
| AutCNV0002746 | 10 | 10q21.1 | 56448886 | 56554972 | 106086 | loss | external link | Pinto, 2010 |
| AutCNV0002745 | 10 | 10q21.1 | 55766428 | 55919064 | 152636 | loss | external link | Pinto, 2010 |
| AutCNV0001973 | 10 | 10q21.1 | 57207096 | 57263910 | 56814 | loss | external link | Pinto, 2010 |
| AutCNV0001972 | 10 | 10q21.1 | 56867856 | 57120283 | 252427 | loss | external link | Pinto, 2010 |
| AutCNV0004478 | 10 | 10q21.1 | 56379618 | 56399445 | 19827 | loss | external link | Nord, 2011 |
| AutCNV0004288 | 10 | 10q11.23-q21.2 | 52002204 | 61820631 | 9818427 | gain | external link | Sanders, 2011 |
| AutCNV0004656 | 10 | 56448627 | 56468820 | 20193 | gain | external link | Laplana M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 55581663 | G | A | PCR or Sanger sequencing | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 55600125 | A | G | p.I1313T | Y | deleterious | 0.7060 | Ishizuka K, 2016 | |
| 10 | 55626564 | T | C | p.I1185M | Y | deleterious | 0.9171 | Ishizuka K, 2016 | |
| 10 | 55663053 | C | T | p.G1151R | Y | deleterious | 0.9474 | Ishizuka K, 2016 | |
| 10 | 55719605 | C | G | c.3010-1G>C | Y | Ishizuka K, 2016 | |||
| 10 | 55721637 | G | A | p.R962C | Y | deleterious | 0.9737 | Ishizuka K, 2016 | |
| 10 | 55944928 | A | G | p.V469A | Y | deleterious | 0.8232 | Ishizuka K, 2016 | |
| 10 | 55944949 | T | C | p.Y462C | Y | deleterious | 0.9854 | Ishizuka K, 2016 | |
| 10 | 55996624 | G | A | p.P315L | Y | deleterious | 0.8325 | Ishizuka K, 2016 | |
| 10 | 56077066 | T | C | p.T281A | Y | neutral | 0.5188 | Ishizuka K, 2016 | |
| 10 | 56089405 | C | T | p.R219K | Y | neutral | 0.4513 | Ishizuka K, 2016 | |
| 10 | 56138652 | C | T | p.G100R | Y | neutral | 0.1814 | Ishizuka K, 2016 | |
| 10 | 56138680 | C | T | p.M60I | Y | neutral | 0.5102 | Ishizuka K, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||