Variant Details for GPC5
Basic Information Top
| Gene Symbol: | GPC5 ( - ) |
|---|---|
| Gene Full Name: | glypican 5 |
| Band: | 13q31.3 |
| Quick Links | Entrez ID:2262; OMIM: 602446; Uniprot ID:GPC5_HUMAN; ENSEMBL ID: ENSG00000179399; HGNC ID: 4453 |
| 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 | 2 | 2 | 2 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002055 | 13 | 13q31.3 | 92163357 | 92268846 | 105489 | gain | external link | Pinto, 2010 |
| AutCNV0004667 | 13 | 13q31.3 | 91989261 | 92504857 | 515596 | gain | external link | Hemmat 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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 92560202 | G | A | Sanger sequencing | neutral | 0.1592 | De Rubeis S, 2014 | ||
| 13 | 92560202 | G | A | c.1292CGT>CAT | p.431R>H | neutral | 0.1592 | Fromer M, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 13 | 92345513 | T | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 13 | 92345513 | T | C | mosaic | Sanger Sequencing and Pyrosequencing | Freed D, 2016 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 92972732 | T | C | Doan RN, 2016 |
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! | |||||||