AutismKB

Evidence Detail for NFKB1


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Basic Information Top
Gene Symbol:NFKB1 ( DKFZp686C01211,EBP-1,KBF1,MGC54151,NF-kappa-B,NF-kappaB,NFKB-p105,NFKB-p50,p105,p50 )
Gene Full Name: nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
Band: 4q24
Quick LinksEntrez ID:4790; OMIM: 164011; Uniprot ID:NFKB1_HUMAN; ENSEMBL ID: ENSG00000109320
Sequences Top
>NFKB1|4790|nucleotide
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>NFKB1|4790|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 (1) 1 (2) 0 (0) 1 (1) 10 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Naik, 2011_1 human bloodautism protein binding activity
  • Subjects: 67
  • Normal Controls: 29
  • Methods: EMSA, SPSS 15
  • Evidence Details: We have noted significant increase(p<0.02) in NF-kB DNA binding activity in peripheral blood samples of children with autism.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000130 4 4q21-23 loss 1 - Denovo CNVs; Jacquemont, 2006
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000084 4q24 4 D4S1647 - 2.87 - Buxbaum, 2004
AutLD0000105 4q23-24 4 D4S1591 - 2.53 - Ylisaukko-oja, 2006

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  (e.g. NLGN4X)

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
  • Click to Download Data

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