AutismKB

Evidence Detail 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 LinksEntrez ID:26053; OMIM: 607270; Uniprot ID:AUTS2_HUMAN; ENSEMBL ID: ENSG00000158321
Sequences Top
>AUTS2|26053|nucleotide
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>AUTS2|26053|protein
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Evidence 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.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (1) 0 (0) 1 (4) 0 (0) 0 (1) 3 (4) 23 (7)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Sultana, 2002_1 Unknown 2 (detail) 130
(-)
--ASD -
-
- 96
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Sultana, 2002_1 human ---AD case report
  • Subjects: 2 (monozygotic twin pair)
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation.
Sultana, 2002_2 human ---ASD genetics: mutation screen
  • Subjects: 18
  • Normal Controls: 18
  • Methods: sequence
  • Evidence Details: DNA sequence analysis of autism subjects and controls revealed 22 biallelic polymorphic sites. For all sites, both alleles were observed in both cases and controls. Thus no autism-specific mutation was observed.
Bedogni, 2010_1 mouse brain cortex--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: Western blotting, cell transfection, immunofluorescence, in situ hybridization
  • Evidence Details: Auts2 mRNA was highly expressed in the developing cerebral cortex and cerebellum, regions often affected by neuropathological changes in autism, and a few other brain regions.
Huang, 2010_1 human ---PDD-NOS case report
  • Subjects: 1 male
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: Chromosome analysis showed an apparently balanced reciprocal translocation: 46,XY,t(6;7)(q14;q11.2)dn, A De Novo Balanced Translocation Breakpoint
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000322 7 7q11.22 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0002651 7 7q11.22 loss 1 - maternal Pinto, 2010
AutCNV0003253 7 7q11.22 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004084 7 7q11.22 loss 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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