AutismKB


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Evidence Detail for MACROD2


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Basic Information Top
Gene Symbol:MACROD2 ( C20orf133 )
Gene Full Name: MACRO domain containing 2
Band: 20p12.1
Quick LinksEntrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264
Sequences Top
>MACROD2|140733|nucleotide
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>MACROD2|140733|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 3 (3) 0 (0) 1 (4) 0 (0) 1 (5) 0 (0) 23 (13)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 5
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Curran, 2011_2 Germany 1 (detail) 236
(-)
ASD -
-
- 1145
(-)
-
-
Curran, 2011_4 Italy 1 (detail) 98
(-)
ASD -
-
- 89
(-)
-
-
Curran, 2011_1 UK 1 (detail) 324
(-)
ASD -
-
- 820
(-)
-
-
Curran, 2011_3 NL 1 (detail) 184
(-)
ASD -
-
- 628
(-)
-
-
Curran, 2011_5 Iceland 1 (detail) 328
(-)
--- -
-
- 32625
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 3
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_2 Replication 1 (detail) 595 1086
(-)
ASD -
-
-
-
Anney, 2010_1 Discovery 11 (detail) 1369 1385
(-)
ASD -
-
-
-
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000650 20 20p12.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000758 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000764 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000796 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000968 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001364 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002184 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002185 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002292 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002984 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002985 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002986 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002987 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002988 20 20p12.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0003424 20 20p12.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003425 20 20p12.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003761 20 20p12.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003762 20 20p12.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003763 20 20p12.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003764 20 20p12.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004376 20 20p12.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004377 20 20p12.1 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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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
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