AutismKB

Evidence Detail for ACCN1


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Basic Information Top
Gene Symbol:ACCN1 ( ACCN,ASIC2,ASIC2a,BNC1,BNaC1,MDEG,hBNaC1 )
Gene Full Name: amiloride-sensitive cation channel 1, neuronal
Band: 17q12
Quick LinksEntrez ID:40; OMIM: 601784; Uniprot ID:ACCN1_HUMAN; ENSEMBL ID: ENSG00000108684
Sequences Top
>ACCN1|40|nucleotide
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>ACCN1|40|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 (1) 2 (6) 1 (1) 0 (0) 7 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0003404 17 17q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003405 17 17q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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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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