Evidence Detail for GABRG3
Basic Information Top
| Gene Symbol: | GABRG3 ( - ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, gamma 3 |
| Band: | 15q12 |
| Quick Links | Entrez ID:2567; OMIM: 600233; Uniprot ID:GBRG3_HUMAN; ENSEMBL ID: ENSG00000182256 |
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 (21) | 0 (0) | 1 (7) | 1 (1) | 16 (10) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 5
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Menold, 2001_1 | USA | 9 (detail) | 226 | - (-) |  |  | ASD | - - |
- - | |
| McCauley, 2004_1 | AGRE | 31 (detail) | 123 | - (-) | | | AD | >4 - |
- - | |
| Ma, 2005_1 | CAT, AGRE | 5 (detail) | 470 | - (-) | | | ASD | - (3-21) |
- >35 | |
| Ashley-Koch, 2006_1 | USA | 5 (detail) | 470 | - (-) | | | AD | - (3-21) |
- - | |
| Curran, 2006_1 | Unknown | 24 (detail) | 148 | - (-) | | | ASD | 7.75±3.08 - |
- - | |
Case Control Based Association Studies: 2
| Reference | Population | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
||||
| CAUCASIAN | |||||||||||
| Kelemenova, 2010_1 | Slovakia | 1 (detail) | 90 (0.00%) | | | ASD | - - |
- | 85 (-) |
- - | |
| ASIAN | |||||||||||
| Tochigi, 2007_1 | Japan | 3 (detail) | 166 (11.45%) | | | ASD | 19.9±9.8 - |
- | 412 (66.99%) |
36±11.5 - | |
Genome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies Top| Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Hogart, 2007_1 | human | - | - | - | AD | epigentics | ||||
| ||||||||||
Large 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 |
| AutCNV0000259 | 15 | 15q11.2 | gain | 2 | - | Overlapping/Recurrent CNVs; | Cook, 1997 |
| 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 |
| 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 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.
