AutismKB

Evidence Detail for NDUFA5


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Basic Information Top
Gene Symbol:NDUFA5 ( B13,CI-13KD-B,CI-13kB,DKFZp781K1356,FLJ12147,NUFM,UQOR13 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
Band: 7q32
Quick LinksEntrez ID:4698; OMIM: 601677; Uniprot ID:NDUA5_HUMAN; ENSEMBL ID: ENSG00000128609
Sequences Top
>NDUFA5|4698|nucleotide
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>NDUFA5|4698|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (4) 1 (1) 1 (2) 0 (0) 6 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
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)
ASIAN
Marui, 2010_1 Japan 3 (detail) 235
(13.19%)
autism 19
-
- 214
(32.24%)
34.6
-
Genome-Wide Association Studies(By Ethnic Group) Top
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
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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