Variant Details for SHANK3

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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 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	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
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
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
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