Evidence Details for AUTS2

View Evidences	View Variants	View Annotations

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

Sequences Top

Nucleotide Sequence
Protein Sequence

>AUTS2|26053|nucleotide
ATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCC
GGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCC
AGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGAAAGAT
GTAGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCATTCAAAGAAGAGC
AGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGGAAGAGAAAGAAAATGCCGAAGGCACTCAGACAGCTC
AAGCCAGGACAGAACAGCTGCAGGGACAGTGACAGTGAAAGTGCCAGTGGAGAATCCAAGGGCTTCCACCGGAGCAGCTCTCGGGAAAGGCTCAGTGATAGTTCA
GCTCCTTCCAGCTTGGGAACAGGCTACTTCTGTGACAGTGACAGTGACCAGGAAGAGAAGGCATCAGATGCCAGCTCTGAAAAACTCTTCAACACTGTTATTGTA
AACAAAGATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGACAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAG
AGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTC
CGAGCTCCTTCTCCGGACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAGCCACCACAGGGCCCTCCTGAGGCCCAGCTC
CAGCCTGCCCCGCAGCCTCAGGTGCAGAGGCCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCCCACCCCTCTGCTCAG
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (1)	2 (11)	0 (0)	0 (1)	0 (0)	0 (1)	0 (0)	2 (2)	3 (4)	50 (20)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Cusco, 2008	Spanish	aCGH			ASD	-	-	-	-	96	100	196
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-
Beunders G, 2013	The Netherlands; Belgium; Great Britain; the Uniti	aCGH	-	-	autism or autistic disorders	-	-	-	-	49684	16784	66468
Egger G, 2014	Austria	Microarray	-	-	ASD	73	-	-	-	245	2357	-
Amarillo IE, 2014	-	SNP-based chromosomal microarray analysis (SNP CMA)	-	-	-	-	-	-	-	1	-	1
Liu Y, 2015	-	-			-	-	-	-	-	1	-	1
Balay L, 2016	-	SNP Array			autistic	-	-	-	-	1	-	1
Fan Y, 2016	China	CMA	-	-	autism	-	-	-	-	3	-	3
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 0

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 1

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Sultana, 2002_1	Unknown	-	-	-	ASD	- -	-	96 (-)	- -

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
Yuen RK, 2016	200	-	301	Genome-wide characteristics of de novo mutations in autism.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
McCarthy SE, 2014	-	Illumina HiSeq2000			autism	-	-	-	-	-
Brett M, 2014	-	Illumina HiSeq2000	-	-	autism	-	-	-	8	Sanger sequencing

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

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

Evidence Details for AUTS2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics