AutismKB

Evidence Detail for ARNT2


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Basic Information Top
Gene Symbol:ARNT2 ( KIAA0307,bHLHe1 )
Gene Full Name: aryl-hydrocarbon receptor nuclear translocator 2
Band: 15q24
Quick LinksEntrez ID:9915; OMIM: 606036; Uniprot ID:ARNT2_HUMAN; ENSEMBL ID: ENSG00000172379
Sequences Top
>ARNT2|9915|nucleotide
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>ARNT2|9915|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 (0) 0 (0) 1 (2) 0 (0) 1 (1) 1 (1) 12 (3)
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
Chakraharti, 2011_1 UK 2 (detail) 174
(19.54%)
AS 23.2±14.6
-
- 155
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000028 15 15q21.2-26.3 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000029 15 15q24.2-26.3 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000110 15 15q21.2-26.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000112 15 15q24.2-26.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000292 15 15q25-26.3 gain 1 - CNVs Only Present In Patients; Bonati, 2005
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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