Evidence Detail for DOCK4
Basic Information Top
| Gene Symbol: | DOCK4 ( FLJ34238,KIAA0716,MGC134911,MGC134912 ) |
|---|---|
| Gene Full Name: | dedicator of cytokinesis 4 |
| Band: | 7q31.1 |
| Quick Links | Entrez ID:9732; OMIM: 607679; Uniprot ID:DOCK4_HUMAN; ENSEMBL ID: ENSG00000128512 |
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 | 2 (4) | 0 (0) | 1 (5) | 1 (1) | 0 (1) | 0 (0) | 15 (6) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Hutcheson, 2004_1 | USA | 9 (detail) | 30 | 61 (-) |  | | ASD | >=4 - |
- - | |
Case Control Based Association Studies: 0
| Reference | Population | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
||||
| No Evidence. | |||||||||||
Genome-Wide Association Studies(By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_3 | Replication | 1 (detail) | 390 | 390 (-) | | | ASD | - - |
- - | ||
| Maestrini, 2009_2 | Discovery | 1 (detail) | 127 | 127 (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 2
| Reference | Stage | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_5 | Discovery | 1 (detail) | 127 (20.47%) | | | ASD | - - |
- | 188 (21.28%) |
- - | ||
| Maestrini, 2009_6 | Replication | 1 (detail) | 294 (19.73%) | | | ASD | - - |
- | 180 (20.00%) |
- - | ||
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 | ||||||
| AutCNV0000142 | 7 | 7q31.1-31.31 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000665 | 7 | 7q31.1 | loss | 1 | - | Overlapping/Recurrent CNVs; | Pagnamenta, 2010 |
| AutCNV0000666 | 7 | 7q31.1 | loss | 1 | - | Overlapping/Recurrent CNVs; | Pagnamenta, 2010 |
| AutCNV0000667 | 7 | 7q31.1 | loss | 1 | - | Overlapping/Recurrent CNVs; | Pagnamenta, 2010 |
| AutCNV0000668 | 7 | 7q31.1 | loss | 1 | - | Overlapping/Recurrent CNVs; | Pagnamenta, 2010 |
| AutCNV0000679 | 7 | 7q31.1 | gain | 1 | - | CNVs Only Present In Patients; | Maestrini, 2009 |
| AutCNV0004266 | 7 | 7q31.1-q31.31 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004268 | 7 | 7q31.1 | gain | 1 | - | CNVs Only Present In Patients; | Sanders, 2011 |
| AutCNV0003934 | 7 | 7q31.1 | gain | 1 | - | CNVs Only Present In Patients; | Levy, 2011 |
Linkage Studies Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P_Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000058 | 7q31.1 | 7 | D7S523 | 1.02 | - | - | Liu, 2001 |
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