Variant Details for SHANK2
Basic Information Top
| Gene Symbol: | SHANK2 ( AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3 ) |
|---|---|
| Gene Full Name: | SH3 and multiple ankyrin repeat domains 2 |
| Band: | 11q13.3-q13.4 |
| Quick Links | Entrez ID:22941; OMIM: 603290; Uniprot ID:SHAN2_HUMAN; ENSEMBL ID: ENSG00000162105; HGNC ID: 14295 |
| 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 | 9 | 5 | 0 | 1 | 1 | 0 | 16 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000822 | 11 | 11q13.3 | 70442269 | 70510224 | 67955 | loss | external link | Pinto, 2010 |
| AutCNV0000806 | 11 | 11q13.3 | 70476810 | 70542984 | 66174 | loss | external link | Pinto, 2010 |
| AutCNV0000702 | 11 | 11q13.3 | 70476560 | 70543234 | 66674 | loss | external link | Berkel, 2010 |
| AutCNV0000705 | 11 | 11q13.3 | 70388251 | 70506824 | 118573 | loss | external link | Berkel, 2010 |
| AutCNV0004294 | 11 | 11q13.3 | 70476810 | 70542984 | 66174 | loss | external link | Sanders, 2011 |
| AutCNV0004293 | 11 | 11q13.3 | 70442269 | 70510224 | 67955 | loss | external link | Sanders, 2011 |
| AutCNV0004970 | 11 | 11q13.3q13.4 | loss | Leblond CS, 2014 | ||||
| AutCNV0005763 | 11 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005761 | 11 | loss | C Yuen RK, 2017 |
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 | 70332092 | * | D:TG | *2542+CA | Sanger sequencing | Sanders SJ, 2012 | |||
| 11 | 70858273 | A | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 11 | 70336411 | G | A | Sanger sequencing | Yuen RK, 2016 | ||||
| 11 | 70336410 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 11 | 70336410 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| , |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Berkel, 2010 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||