Variant Details for BIRC6
Basic Information Top
| Gene Symbol: | BIRC6 ( APOLLON,BRUCE,FLJ13726,FLJ13786,KIAA1289 ) |
|---|---|
| Gene Full Name: | baculoviral IAP repeat-containing 6 |
| Band: | 2p22.3 |
| Quick Links | Entrez ID:57448; OMIM: 605638; Uniprot ID:BIRC6_HUMAN; ENSEMBL ID: ENSG00000115760; HGNC ID: 13516 |
| 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 | 6 | 2 | 1 | 2 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000202 | 2 | 2p22.3 | 32736561 | 33436887 | 700326 | gain | external link | Christian, 2008 |
| AutCNV0002367 | 2 | 2p22.3 | 32630434 | 33328394 | 697960 | gain | external link | Pinto, 2010 |
| AutCNV0002366 | 2 | 2p22.3 | 32626617 | 33331219 | 704602 | gain | external link | Pinto, 2010 |
| AutCNV0002365 | 2 | 2p22.3 | 32626617 | 33320957 | 694340 | gain | external link | Pinto, 2010 |
| AutCNV0002238 | 2 | 2p22.3 | 32630434 | 33331219 | 700785 | gain | external link | Pinto, 2010 |
| AutCNV0004040 | 2 | 2p22.3 | 32630786 | 33331963 | 701177 | gain | external link | Levy, 2011 |
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 | 32640862 | C | G | Sanger sequencing | neutral | 0.4611 | De Rubeis S, 2014 | ||
| 2 | 32656133 | C | T | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 32730150 | G | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| chr2 | 32660650 | C | T | p.Q1166X | Y | Yuen RK, 2015 | |||
| 2 | 32730150 | G | C | Y | deleterious | 0.8936 | Turner TN, 2017 |
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! | |||||||