Evidence Detail for BCAT1

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Basic Information Top
Gene Symbol:BCAT1 ( BCATC,BCT1,DKFZp686E12175,ECA39,MECA39,PNAS121,PP18 )
Gene Full Name: branched chain amino-acid transaminase 1, cytosolic
Band: 12p12.1
Quick LinksEntrez ID:586; OMIM: 113520; Uniprot ID:BCAT1_HUMAN; ENSEMBL ID: ENSG00000060982
Sequences Top
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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
Hu, 2009_1 mixed lymphoblastoid cell lines 21
autism with nonaffected sib pairsautism 17
1.21 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AA865590
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
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
AutCNV0000708 12 12p11.1-12.1 loss 1 - Denovo CNVs; Soysal, 2011
AutCNV0003831 12 12p12.3-p11.22 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004299 12 12p11.22-p12.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000004 12p12.1 12 D12S1591 1.5 - - McCauley, 2005

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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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