Variant Details for AP3B2
Basic Information Top
| Gene Symbol: | AP3B2 ( DKFZp686D17136,NAPTB ) |
|---|---|
| Gene Full Name: | adaptor-related protein complex 3, beta 2 subunit |
| Band: | 15q25.2 |
| Quick Links | Entrez ID:8120; OMIM: 602166; Uniprot ID:AP3B2_HUMAN; ENSEMBL ID: ENSG00000103723; HGNC ID: 567 |
| 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 | 5 | 2 | 0 | 1 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000292 | 15 | 15q25-26.3 | 78312945 | 102521392 | 24208447 | gain | external link | Bonati, 2005 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000029 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000112 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 83346497 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 15 | 83348481 | C | G | Sanger sequencing | deleterious | 0.6582 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 85556561 | * | -AT/* | p.Tyr94CysfsX8 | O'Roak BJ, 2012 |
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! | |||||||