Variant Details for ARPC5
Basic Information Top
| Gene Symbol: | ARPC5 ( ARC16,MGC88523,dJ127C7.3,p16-Arc ) |
|---|---|
| Gene Full Name: | actin related protein 2/3 complex, subunit 5, 16kDa |
| Band: | 1q25.3 |
| Quick Links | Entrez ID:10092; OMIM: 604227; Uniprot ID:ARPC5_HUMAN; ENSEMBL ID: ENSG00000162704; HGNC ID: 708 |
| 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 | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004037 | 1 | 1q25.3 | 183588990 | 183823631 | 234641 | gain | external link | Levy, 2011 |
| AutCNV0000728 | 1 | 1q25.3-q31.1 | 181099267 | 187997356 | 6898089 | loss | external link | Bremer, 2011 |
| AutCNV0004955 | 1 | 187740850 | 187870882 | 130032 | gain | external link | Brand H, 2015 | |
| AutCNV0004954 | 1 | 183594279 | 183821464 | 227185 | gain | external link | Brand H, 2015 |
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! | |||||||