AutismKB

Evidence Detail for KCND3


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Basic Information Top
Gene Symbol:KCND3 ( KCND3L,KCND3S,KSHIVB,KV4.3,MGC142035,MGC142037 )
Gene Full Name: potassium voltage-gated channel, Shal-related subfamily, member 3
Band: 1p13.3
Quick LinksEntrez ID:3752; OMIM: 605411; Uniprot ID:KCND3_HUMAN; ENSEMBL ID: ENSG00000171385
Sequences Top
>KCND3|3752|nucleotide
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>KCND3|3752|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) 0 (0) 0 (0) 0 (0) 2 (2) 14 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
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
Lu, 2011_1 human bloodASD NVC QTL association
  • Subjects: 213 mutiplex families
  • Normal Controls: -
  • Methods: Illumina 1M-single Infinium Beadship SNP array
  • Evidence Details: KCND3 has a single associated block with P=0.0006 and an individual protective haplotype with P=0.0001 are highlighted.
Lu, 2011_2 human bloodASD NVC QTL association
  • Subjects: 708 families with 1371 ASD children
  • Normal Controls: -
  • Methods: Illumina 1M-single Infinium Beadship SNP array
  • Evidence Details: "The 9th block of KCND3, 46kb away from the original signal, is asssociated with NVC(P=0.02) and has an individual risk haplotype within it(P=0.008)"
Large Scale Expression Studies Top
CNV Studies Top
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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