AutismKB

Evidence Detail for KCND2


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Basic Information Top
Gene Symbol:KCND2 ( KIAA1044,KV4.2,MGC119702,MGC119703,RK5 )
Gene Full Name: potassium voltage-gated channel, Shal-related subfamily, member 2
Band: 7q31
Quick LinksEntrez ID:3751; OMIM: 605410; Uniprot ID:KCND2_HUMAN; ENSEMBL ID: ENSG00000184408
Sequences Top
>KCND2|3751|nucleotide
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>KCND2|3751|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 1 (1) 0 (0) 1 (4) 1 (1) 0 (0) 1 (1) 16 (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: 0
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery 1 (detail) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.51).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000143 7 7q31.1-32.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0003795 7 7q31.31 loss 1 - CNVs Only Present In Patients; Okamoto, 2011
AutCNV0004269 7 7q31.1-q32.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000153 7q31.31-q32.3 7 rs1990790 1.97 - - Allen-Brady, 2010

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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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