Variant Details for SHANK3
Basic Information Top
| Gene Symbol: | SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 ) |
|---|---|
| Gene Full Name: | SH3 and multiple ankyrin repeat domains 3 |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322; HGNC ID: 14294 |
| 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 | 22 | 12 | 0 | 0 | 5 | 0 | 39 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000296 | 22 | 22q13.3 | 44268667 | 51244566 | 6975899 | loss | external link | Goizet, 2000 |
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0000015 | 22 | 22q13.31-13.33 | 46823508 | 51175739 | 4352231 | loss | external link | Sebat, 2007 |
| AutCNV0000160 | 22 | 22q13.33 | 50953103 | 51229805 | 276702 | loss | external link | Marshall, 2008 |
| AutCNV0000159 | 22 | 22q13.31-13.33 | 47956881 | 51218956 | 3262075 | loss | external link | Marshall, 2008 |
| AutCNV0000386 | 22 | 22q13.33 | Zwaag, 2009 | |||||
| AutCNV0000385 | 22 | 22q13.33 | Zwaag, 2009 | |||||
| AutCNV0001468 | 22 | 22q13.33 | 51139178 | 51235401 | 96223 | gain | external link | Pinto, 2010 |
| AutCNV0000831 | 22 | 22q13.33 | 51105556 | 51220441 | 114885 | gain | external link | Pinto, 2010 |
| AutCNV0004396 | 22 | 22q13.31-q13.33 | 47898736 | 51162234 | 3263498 | loss | external link | Sanders, 2011 |
| AutCNV0004395 | 22 | 22q13.31-q13.33 | 46765363 | 51119017 | 4353654 | loss | external link | Sanders, 2011 |
| AutCNV0000724 | 22 | 22q13 | 51152845 | 51178264 | 25419 | loss | external link | Bremer, 2011 |
| AutCNV0000710 | 22 | 22q13.2-qter | loss | Chen, 2011 | ||||
| AutCNV0004397 | 22 | 22q13.33 | 50896381 | 51173083 | 276702 | loss | external link | Sanders, 2011 |
| AutCNV0005033 | 22 | 22q13.33 | 51152845 | 51178264 | 25419 | loss | external link | Eriksson MA, 2015 |
| AutCNV0005032 | 22 | 22q13.31q13.33 | 48064672 | 51132868 | 3068196 | loss | external link | Eriksson MA, 2015 |
| AutCNV0004984 | 22 | 22q11.21 | 18886915 | 21052014 | 2165099 | external link | Sanders SJ, 2015 | |
| AutCNV0005162 | X | Xq28 | 152955334/152951719 | 152961664/152986547 | 6330 | gain | external link | Brownstein CA, 2016 |
| AutCNV0005770 | 22 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005769 | 22 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005936 | 22 | 22q13.33 | 50730501 | 51159000 | 428499 | loss | external link | Brandler WM, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 51137146 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 22 | 51159850 | A | G | c.3637A>G | p.Ser1213Gly | PCR and Sanger sequencing | neutral | 0.0189 | O'Roak BJ, 2014 |
| 22 | 51159932 | T | TG | c.3719_3720insG | p.Ala1243GlyfsTer6 | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 22 | 51160793 | - | G | Sanger sequencing | Yuen RK, 2016 | ||||
| 22 | 51160792 | TGGGGG | TGGGGGG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 22 | 51153475 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 22 | 51159130 | AG | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 22 | 51160792 | T | TG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 22 | 51153475 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 22 | 51159158 | c.2860dupC | p.Leu954Profs342 | Sanger sequencing | Zhu W, 2018 | ||||
| 22 | 51159534 | C | T | c.3236C>T | p.P1079L | Sanger sequencing | Zhu W, 2018 | ||
| 22 | 51121807 | AG | p.309_309del | Y | Yuen RK, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Durand, 2007 | |||||||||
| Moessner, 2007 | |||||||||
| Gauthier, 2008 | |||||||||
| Bozidagi, 2011 | |||||||||
| g.51160275-51160276delAG | p.G1339Efs*5 | Y | Leblond CS, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||