Variant Details for SCRIB
Basic Information Top
| Gene Symbol: | SCRIB ( CRIB1,SCRB1,SCRIB1,Vartul ) |
|---|---|
| Gene Full Name: | scribbled homolog (Drosophila) |
| Band: | 8q24.3 |
| Quick Links | Entrez ID:23513; OMIM: 607733; Uniprot ID:SCRIB_HUMAN; ENSEMBL ID: ENSG00000180900; HGNC ID: 30377 |
| 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 | 1 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002263 | 8 | 8q24.3 | 144804926 | 144913873 | 108947 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 144891120 | G | A | c.1774C>T | p.Pro592Ser | Sanger sequencing | neutral | 0.2495 | Neale BM, 2012 |
| 8 | 144891120 | G | A | Sanger sequencing | neutral | 0.2495 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 8 | 144895053 | C | G | mosaic | PASM | Dou Y, 2017 |
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! | |||||||