Variant Details for ARL6IP6
Basic Information Top
| Gene Symbol: | ARL6IP6 ( MGC33864,PFAAP1 ) |
|---|---|
| Gene Full Name: | ADP-ribosylation-like factor 6 interacting protein 6 |
| Band: | 2q23.3 |
| Quick Links | Entrez ID:151188; OMIM: NA; Uniprot ID:AR6P6_HUMAN; ENSEMBL ID: ENSG00000177917; HGNC ID: 24048 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000409 | 2 | 2q24.1-24.3 | 152815504 | 165266754 | 12451250 | loss | external link | Gregory, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 153575211 | C | G | c.73C>G | p.Arg25Gly | Sanger sequencing | neutral | 0.0134 | Jiang YH, 2013 |
| 2 | 153575211 | C | G | Sanger sequencing | neutral | 0.0134 | Yuen RK, 2016 | ||
| 2 | 153575211 | c.C73G | neutral | 0.0134 | Jiang YH, 2013 |
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! | |||||||