Variant Details for SH3TC1
Basic Information Top
| Gene Symbol: | SH3TC1 ( FLJ20356,FLJ32999,FLJ36243,FLJ46394 ) |
|---|---|
| Gene Full Name: | SH3 domain and tetratricopeptide repeats 1 |
| Band: | 4p16.1 |
| Quick Links | Entrez ID:54436; OMIM: NA; Uniprot ID:S3TC1_HUMAN; ENSEMBL ID: ENSG00000125089; HGNC ID: 26009 |
| 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 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000019 | 4 | 4p15.32-16.3 | 408952 | 17368531 | 16959579 | loss | external link | Szatmari, 2007 |
| AutCNV0000483 | 4 | 4p16.1 | 7959401 | 9499801 | 1540400 | loss | external link | Gregory, 2009 |
| AutCNV0004235 | 4 | 4p16.1 | 8202211 | 8233341 | 31130 | loss | external link | Sanders, 2011 |
| AutCNV0004910 | 21 | 21q22.3 | 43653994 | 43773744 | 119750 | gain | external link | Castronovo C, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 8207326 | G | A | Sanger sequencing | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||