Variant Details for BOC
Basic Information Top
| Gene Symbol: | BOC ( - ) |
|---|---|
| Gene Full Name: | Boc homolog (mouse) |
| Band: | 3q13.2 |
| Quick Links | Entrez ID:91653; OMIM: 608708; Uniprot ID:BOC_HUMAN; ENSEMBL ID: ENSG00000144857; HGNC ID: 17173 |
| 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 | 1 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000481 | 3 | 3q13.2 | 112442521 | 113016263 | 573742 | gain | external link | Gregory, 2009 |
| AutCNV0000480 | 3 | 3q13.2 | 112335810 | 113016263 | 680453 | gain | external link | Gregory, 2009 |
| AutCNV0004675 | 3 | 3q13.2q13.31 | loss | Shuvarikov A, 2013 | ||||
| AutCNV0005105 | 7 | 69955482 | 70217682 | 262200 | loss | external link | Fan Y, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 112997521 | A | T | PCR or Sanger sequencing | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000143 | 3q13.2-13.31 | 3 | - | - | 5.58 | - | Allen-Brady, 2008 |