Evidence Detail for MACROD2
Basic Information Top
| Gene Symbol: | MACROD2 ( C20orf133 ) |
|---|---|
| Gene Full Name: | MACRO domain containing 2 |
| Band: | 20p12.1 |
| Quick Links | Entrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264 |
Sequences Top Evidence Statistic TopClick 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 TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
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_5 | Iceland | 1 (detail) | 328 (-) | - | - | - | - - |
- | 32625 (-) |
- - | |
| Curran, 2011_1 | UK | 1 (detail) | 324 (-) | | | ASD | - - |
- | 820 (-) |
- - | |
| Curran, 2011_3 | NL | 1 (detail) | 184 (-) | | | ASD | - - |
- | 628 (-) |
- - | |
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 TopLarge Scale Expression Studies TopCNV 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 | - | paternal | Pinto, 2010 |
| AutCNV0000764 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0000796 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0000968 | 20 | 20p12.1 | loss | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0001364 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0002184 | 20 | 20p12.1 | loss | 1 | - | paternal | Pinto, 2010 |
| AutCNV0002185 | 20 | 20p12.1 | loss | 1 | - | paternal | Pinto, 2010 |
| AutCNV0002292 | 20 | 20p12.1 | loss | 1 | - | na | Pinto, 2010 |
| AutCNV0002984 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0002985 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0002986 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0002987 | 20 | 20p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0002988 | 20 | 20p12.1 | loss | 1 | - | maternal | 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; DeNovo | Sanders, 2011 |
| AutCNV0004377 | 20 | 20p12.1 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
Linkage Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
