Variant Details for VCP
Basic Information Top
| Gene Symbol: | VCP ( IBMPFD,MGC131997,MGC148092,MGC8560,TERA,p97 ) |
|---|---|
| Gene Full Name: | valosin-containing protein |
| Band: | 9p13.3 |
| Quick Links | Entrez ID:7415; OMIM: 601023; Uniprot ID:TERA_HUMAN; ENSEMBL ID: ENSG00000165280; HGNC ID: 12666 |
| 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 | 1 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000361 | 9 | 9p13.3 | 32810000 | 36310000 | 3500000 | external link | Zwaag, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 35057454 | C | T | PCR or Sanger sequencing | deleterious | 0.9991 | Iossifov I, 2014 | ||
| 9 | 35057454 | C | T | c.2234G>A | p.Arg745His | PCR and Sanger sequencing | deleterious | 0.9991 | O'Roak BJ, 2014 |
| 9 | 35061615 | T | G | c.1153A>C | p.Thr385Pro | Y | deleterious | 0.9991 | O'Roak BJ, 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! | |||||||