Evidence Detail for DOC2A
Basic Information Top
| Gene Symbol: | DOC2A ( Doc2 ) |
|---|---|
| Gene Full Name: | double C2-like domains, alpha |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:8448; OMIM: 604567; Uniprot ID:DOC2A_HUMAN; ENSEMBL ID: ENSG00000149927 |
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 (0) | 0 (0) | 3 (14) | 0 (0) | 0 (0) | 1 (1) | 13 (1) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies Top| Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Kumar, 2009_1 | human | blood |  | | ASD | genetics: mutation screen | ||||
| ||||||||||
Large Scale Expression Studies TopCNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000012 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Sebat, 2007 |
| AutCNV0000017 | 16 | 16p11.2 | gain | 11 | 7 | Overlapping/Recurrent CNVs; Denovo CNVs; | Weiss, 2008 |
| AutCNV0000018 | 16 | 16p11.2 | loss | 13 | 5 | Overlapping/Recurrent CNVs; Denovo CNVs; | Weiss, 2008 |
| AutCNV0000151 | 16 | 16p11.2 | loss | 2 | - | Overlapping/Recurrent CNVs; Denovo CNVs; | Marshall, 2008 |
| AutCNV0000152 | 16 | 16p11.2 | gain | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000185 | 16 | 16p11.2 | gain | 1 | - | Other; | Marshall, 2008 |
| AutCNV0000186 | 16 | 16p11.2 | gain | 1 | - | Other; Denovo CNVs; | Marshall, 2008 |
| AutCNV0000187 | 16 | 16p11.2 | loss | 2 | - | Overlapping/Recurrent CNVs; Other; Denovo CNVs; | Marshall, 2008 |
| AutCNV0000193 | 16 | 16p11.2 | loss | 4 | 0 | Overlapping/Recurrent CNVs; | Kumar, 2008 |
| AutCNV0000232 | 16 | 16p11.2 | loss | 3 | - | Overlapping/Recurrent CNVs; Denovo CNVs; | Christian, 2008 |
| AutCNV0000233 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; Denovo CNVs; | Christian, 2008 |
| AutCNV0000260 | 16 | 16p11.2 | gain | 2 | - | Overlapping/Recurrent CNVs; | Finelli, 2004 |
| AutCNV0000369 | 16 | 16p11.2 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000370 | 16 | 16p11.2 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000669 | 16 | 16p11.2 | loss | 1 | 1 | CNVs Only Present In Patients; | Shen, 2010 |
| AutCNV0000719 | 16 | 16p11.2 | gain | 2 | - | Overlapping/Recurrent CNVs; | Bremer, 2011 |
| AutCNV0000794 | 16 | 16p11.2 | loss | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0000810 | 16 | 16p11.2 | loss | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0000811 | 16 | 16p11.2 | loss | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0000812 | 16 | 16p11.2 | gain | 1 | - | DeNovo | Pinto, 2010 |
| AutCNV0003726 | 16 | 16p11.2 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
| AutCNV0003843 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003844 | 16 | 16p11.2 | gain | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003845 | 16 | 16p11.2 | gain | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003846 | 16 | 16p11.2 | gain | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003847 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003848 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003849 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003850 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003851 | 16 | 16p11.2 | loss | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0003852 | 16 | 16p11.2 | gain | 1 | - | Denovo CNVs; | Levy, 2011 |
| AutCNV0004335 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004336 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004337 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004338 | 16 | 16p11.2 | loss | 2 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004339 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004340 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004341 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004342 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004343 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004344 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004345 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004346 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004347 | 16 | 16p11.2 | loss | 2 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004348 | 16 | 16p11.2 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004349 | 16 | 16p11.2 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004350 | 16 | 16p11.2 | gain | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004351 | 16 | 16p11.2 | 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.
