Evidence Detail for HLA-DRB1

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Basic Information Top
Gene Symbol:HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 )
Gene Full Name: major histocompatibility complex, class II, DR beta 1
Band: 6p21.3
Quick LinksEntrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126
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 (1) 0 (0) 3 (3) 3 (3) 33 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Warren, 1996_1 USA 1 (detail) 50
- 79
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Warren, 1992_1 human bloodAD genetics
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: This extended haplotype [B44-SC30-DR4] was increased by almost six-fold in the autistic subjects as compared with healthy controls. Moreover, the total number of extended haplotypes expressed on chromosomes of autistic subjects was significantly increased as compared with those expressed on chromosomes of healthy subjects.
Warren, 1996_1 human plasma--- protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: In addition, two alleles of the DR beta 1 gene also had significantly increased representation in the autistic subjects
Torres, 2002_1 human bloodASD genetics
  • Subjects: 103 (80 male, 23 female)
  • Normal Controls: NMDP database
  • Methods: PCR-SSOP
  • Evidence Details: The DR4 allele occurred more often in probands than controls (0.007), whereas the DR13,14 alleles occurred less often in probands than controls (p=0.003). The transmission disequilibrium test (TDT) indicated that the ASD probands inherited the DR4 allele more frequently than expected (p=0.026) from the fathers.
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
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
-AD 22
-1.32 Down 0.0618
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1715169
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
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
AutCNV0000699 6 6p21 Gain - - CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
Linkage Studies Top

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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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