AutismKB

Evidence Detail for DGCR2


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Basic Information Top
Gene Symbol:DGCR2 ( DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12 )
Gene Full Name: DiGeorge syndrome critical region gene 2
Band: 22q11.21
Quick LinksEntrez ID:9993; OMIM: 600594; Uniprot ID:IDD_HUMAN; ENSEMBL ID: ENSG00000070413
Sequences Top
>DGCR2|9993|nucleotide
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>DGCR2|9993|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) 1 (1) 2 (9) 1 (1) 0 (0) 0 (0) 6 (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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.893381 Down 7.8003
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1713301
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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
AutCNV0000157 22 22q11.21 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000158 22 22q11.21 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000244 22 22q11.21 gain 2 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 2008
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000722 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000759 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000760 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000826 22 22q11.21 gain 1 - DeNovo Pinto, 2010
AutCNV0003864 22 22q11.21 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004183 22 22q11.21 gain 1 1 CNVs Only Present In Patients; Levy, 2011
AutCNV0004388 22 22q11.21 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004389 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
AutCNV0004390 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004391 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; paternal Sanders, 2011
AutCNV0004392 22 22q11.21-q11.22 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004709 22 22q11.21 Gain 3 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000028 22q11.21 22 D22S264 1.3 - - Bailey, 1998

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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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