AutismKB

Evidence Detail for BTN2A1


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Basic Information Top
Gene Symbol:BTN2A1 ( BK14H9.1,BT2.1,BTF1,DJ3E1.1,FLJ36567 )
Gene Full Name: butyrophilin, subfamily 2, member A1
Band: 6p22.1
Quick LinksEntrez ID:11120; OMIM: 613590; Uniprot ID:BT2A1_HUMAN; ENSEMBL ID: ENSG00000112763
Sequences Top
>BTN2A1|11120|nucleotide
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>BTN2A1|11120|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) 1 (1) 1 (3) 1 (1) 0 (0) 0 (0) 4 (2)
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
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)
-autism 3
(33.33%)
1.56 Up 0.02
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 32673_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0001054 6 6p22.1 loss 1 - paternal Pinto, 2010
AutCNV0003569 6 6p22.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004078 6 6p22.1 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004643 6 6p22.1 Loss 2 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000150 6p22.1 6 MOGc - - 0.012 Guerini, 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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