Variant Details for SCUBE2
Basic Information Top
| Gene Symbol: | SCUBE2 ( CEGB1,CEGF1,CEGP1,FLJ16792,FLJ35234,MGC133057 ) |
|---|---|
| Gene Full Name: | signal peptide, CUB domain, EGF-like 2 |
| Band: | 11p15.4 |
| Quick Links | Entrez ID:57758; OMIM: 611747; Uniprot ID:SCUB2_HUMAN; ENSEMBL ID: ENSG00000175356; HGNC ID: 30425 |
| 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 | 2 | 0 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004409 | 11 | 11p15.4 | 6969479 | 9255246 | 2285767 | gain | external link | Nord, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 9077462 | A | G | strong | Iossifov I, 2014 | ||||
| 11 | 9111335 | C | T | c.G175A | p.D59 | neutral | 0.0656 | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 9043479 | G | C | D960H | Toma C, 2014 |
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! | |||||||