Variant Details for AUTS2

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Basic Information Top

Gene Symbol:	AUTS2 ( FBRSL2,KIAA0442,MGC13140 )
Gene Full Name:	autism susceptibility candidate 2
Band:	7q11.22
Quick Links	Entrez ID:26053; OMIM: 607270; Uniprot ID:AUTS2_HUMAN; ENSEMBL ID: ENSG00000158321; HGNC ID: 14262
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	18	1	0	2	4	0	25

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0000322	7	7q11.22	69992426	70317785	325359	gain	external link	Cusco, 2008
AutCNV0002651	7	7q11.22	69699074	69732592	33518	loss	external link	Pinto, 2010
AutCNV0004084	7	7q11.22	69735873	69769275	33402	loss	external link	Levy, 2011
AutCNV0003253	7	7q11.22	67294946	69346385	2051439	gain	external link	Gai, 2011
AutCNV0005512	7	7q11.22				loss		Beunders G, 2013
AutCNV0005511	7	7q11.22				loss		Beunders G, 2013
AutCNV0005514	7	7q11.22				loss		Beunders G, 2013
AutCNV0005513	7	7q11.22				loss		Beunders G, 2013
AutCNV0005829	7	7q11.22	68391493	68846056	454563	gain	external link	Egger G, 2014
AutCNV0004692	7	7q11.22	70135261	70197584	62323	loss	external link	Amarillo IE, 2014
AutCNV0004987	7	7q11.22	68254845	69084409	829564		external link	Liu Y, 2015
AutCNV0005103	7	7q11.22	70105229	70203625	98396	loss	external link	Fan Y, 2016
AutCNV0005102	11	11q22.3	106219059	106506751	287692	gain	external link	Balay L, 2016
AutCNV0005720	7					loss		C Yuen RK, 2017
AutCNV0005719	7					loss		C Yuen RK, 2017
AutCNV0005718	7					loss		C Yuen RK, 2017
AutCNV0005717	7					gain		C Yuen RK, 2017
AutCNV0005716	7					loss		C Yuen RK, 2017

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
7	70255088	C	T			Sanger sequencing			Yuen RK, 2016

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
7	69755471	G	A		p.V260I	Y	neutral	0.002	Brett M, 2014
7	69364416								McCarthy SE, 2014

Low-Scale Gene Mutations Top

Chr	Pos	AA	Validated	Reference
				Sultana, 2002
				Bedogni, 2010
				Huang, 2010
7	70228020	p.Ala303Ser	Y	Bock I, 2016

Linkage Regions Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P Value	Reference
No related data!

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Variant Details for AUTS2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics