Variant Details for TSPAN10
Basic Information Top
Gene Symbol: | TSPAN10 ( FLJ39607,OCSP ) |
---|---|
Gene Full Name: | tetraspanin 10 |
Band: | 17q25.3 |
Quick Links | Entrez ID:83882; OMIM: NA; Uniprot ID:TSN10_HUMAN; ENSEMBL ID: ENSG00000182612; HGNC ID: 29942 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 2 | 1 | 0 | 1 | 0 | 1 | 5 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000808 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Pinto, 2010 |
AutCNV0004363 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Sanders, 2011 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
17 | 79612099 | G | T | c.118G>T | p.Ala40Ser | Not_tested | Takata A, 2018 |
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 |
---|---|---|---|---|---|---|---|---|---|
17 | 79612633 | T | C | Y | Cukier HN, 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 |
---|---|---|---|---|---|---|---|
AutLD0000044 | 17q25.3 | 17 | D17S784 | 1.67 | - | - | Auranen, 2002 |