Variant Details for SOX5
Basic Information Top
| Gene Symbol: | SOX5 ( L-SOX5,MGC35153 ) |
|---|---|
| Gene Full Name: | SRY (sex determining region Y)-box 5 |
| Band: | 12p12.1 |
| Quick Links | Entrez ID:6660; OMIM: 604975; Uniprot ID:SOX5_HUMAN; ENSEMBL ID: ENSG00000134532; HGNC ID: 11201 |
| 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 | 3 | 2 | 0 | 1 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004299 | 12 | 12p11.22-p12.3 | 17015267 | 29997799 | 12982532 | loss | external link | Sanders, 2011 |
| AutCNV0003831 | 12 | 12p12.3-p11.22 | 17016260 | 29990846 | 12974586 | loss | external link | Levy, 2011 |
| AutCNV0000708 | 12 | 12p11.1-12.1 | 24295351 | 34760977 | 10465626 | loss | external link | Soysal, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 24573279 | G | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 12 | 23999045 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 24034451 | - | A | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000004 | 12p12.1 | 12 | D12S1591 | 1.5 | - | - | McCauley, 2005 |