Variant Details for ACOX3
Basic Information Top
| Gene Symbol: | ACOX3 ( - ) |
|---|---|
| Gene Full Name: | acyl-CoA oxidase 3, pristanoyl |
| Band: | 4p16.1 |
| Quick Links | Entrez ID:8310; OMIM: 603402; Uniprot ID:ACOX3_HUMAN; ENSEMBL ID: ENSG00000087008; HGNC ID: 121 |
| 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 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000019 | 4 | 4p15.32-16.3 | 408952 | 17368531 | 16959579 | loss | external link | Szatmari, 2007 |
| AutCNV0000483 | 4 | 4p16.1 | 7959401 | 9499801 | 1540400 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 8412052 | C | T | PCR or Sanger sequencing | deleterious | 0.8804 | Iossifov I, 2014 | ||
| 4 | 8401309 | C | T | neutral | 0.2768 | Chen R, 2017 |
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! | |||||||