Evidence Detail for OCA2
Basic Information Top
| Gene Symbol: | OCA2 ( BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 ) |
|---|---|
| Gene Full Name: | oculocutaneous albinism II |
| Band: | 15q |
| Quick Links | Entrez ID:4948; OMIM: 611409; Uniprot ID:P_HUMAN; ENSEMBL ID: ENSG00000104044 |
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 | 0 (1) | 0 (0) | 3 (20) | 1 (1) | 0 (0) | 0 (0) | 7 (2) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| 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 | ||||||
| AutCNV0000010 | 15 | 15q11-13.33 | gain | 1 | - | Denovo CNVs; | Sebat, 2007 |
| AutCNV0000016 | 15 | 15q11-13 | gain | 5 | - | Overlapping/Recurrent CNVs; Denovo CNVs; | Weiss, 2008 |
| AutCNV0000025 | 15 | 15q11.2-12 | gain | 6 | - | CNVs Overlapping With ACRD; | Szatmari, 2007 |
| AutCNV0000046 | 15 | 15q11.2-12 | gain | 6 | - | Overlapping/Recurrent CNVs; | Szatmari, 2007 |
| AutCNV0000133 | 15 | 15q11-13 | gain | 1 | - | Denovo CNVs; | Jacquemont, 2006 |
| AutCNV0000148 | 15 | 15q11.2-13.3 | gain | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000149 | 15 | 15q11.2-13.3 | gain | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000181 | 15 | 15q11.2-q13.3 | gain | 1 | - | Other; Denovo CNVs; | Marshall, 2008 |
| AutCNV0000224 | 15 | 15q11-13 | gain | 1 | - | CNVs Only Present In Patients; | Christian, 2008 |
| AutCNV0000225 | 15 | 15q11-13 | gain | 1 | - | Denovo CNVs; | Christian, 2008 |
| AutCNV0000226 | 15 | 15q11-13 | gain | 1 | - | Denovo CNVs; | Christian, 2008 |
| AutCNV0000258 | 15 | 15q11-13 | gain | 1 | - | CNVs Only Present In Patients; | Silva, 2002 |
| AutCNV0000268 | 15 | 15q11-13 | gain | 1 | - | Denovo CNVs; | Kwasnicka-Crawford, 2007 |
| AutCNV0000272 | 15 | 15q11.2-13 | loss | 2 | - | Overlapping/Recurrent CNVs; | Wassink, 2001 |
| AutCNV0000273 | 15 | 15q11.2-13 | gain | 1 | - | CNVs Only Present In Patients; | Wassink, 2001 |
| AutCNV0000279 | 15 | 15q11.2-13 | gain | 1 | - | CNVs Only Present In Patients; | Wassink, 2007 |
| AutCNV0000280 | 15 | 15q11-13 | gain | 1 | 0 | CNVs Only Present In Patients; | Bolton, 2004 |
| AutCNV0000284 | 15 | 15q11-13 | gain | 3 | - | Overlapping/Recurrent CNVs; | Wolpert, 2000 |
| AutCNV0000285 | 15 | 15q11-13 | gain | 3 | - | Denovo CNVs; | Sahoo, 2005 |
| AutCNV0000286 | 15 | 15q11-13 | gain | 1 | - | CNVs Only Present In Patients; | Sahoo, 2005 |
| AutCNV0000287 | 15 | 15p11-q13 | gain | 4 | - | Overlapping/Recurrent CNVs; | Sahoo, 2005 |
| AutCNV0000288 | 15 | 15p11-q13 | gain | 1 | - | CNVs Only Present In Patients; | Sahoo, 2005 |
| AutCNV0000290 | 15 | 15q11-13 | gain | 1 | - | CNVs Only Present In Patients; | Keller, 2003 |
| AutCNV0000297 | 15 | 15q11-12 | gain | 1 | - | CNVs Only Present In Patients; | Mann, 2004 |
| AutCNV0000298 | 15 | 15q11-12 | gain | 1 | - | CNVs Only Present In Patients; | Mann, 2004 |
| AutCNV0000588 | 15 | 15q11.2-13.1 | Gain | 1 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
| AutCNV0000589 | 15 | 15q13.1 | Gain | 1 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
| AutCNV0000676 | 15 | 15q11-13 | gain | 2 | - | Overlapping/Recurrent CNVs; | Bremer, 2009 |
| AutCNV0000824 | 15 | 15q11.2-13.1 | gain | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0003836 | 15 | 15q11.2-q13.1 | gain | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0004311 | 15 | 15q11.1-q13.3 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004312 | 15 | 15q11.2-q13.3 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004313 | 15 | 15q11.2-q13.3 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004314 | 15 | 15q11.2-q13.1 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004315 | 15 | 15q11.2-q13.1 | gain | 1 | - | Overlapping/Recurrent CNVs; DeNovo | Sanders, 2011 |
| AutCNV0004316 | 15 | 15q11.2-q13.1 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004630 | 15 | 15q11-13 | Gain | 4 | - | CNVs Only Present In Patients; | Cai, 2008 |
Linkage Studies Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P_Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |
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