Detail Information of AutCNV0000550
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  |  | ASD | - | - | - | - | 119 | 54 | 173 | Gregory, 2009 |
| Population: | USA | ||||||||||
| Platform: | Genetix Qarray2 | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 9q34.13-34.3 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
| Region: | Chr9: 134558770-141153431 | ||||||||||
| Gain/Loss: | Loss | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG7248 | TSC1 | AD | Level 4: The disorder is a generally acknowledged ASD related disorder. |
| AutG79813 | EHMT1 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG7248 | TSC1 | 0 | 0 | 1 | 0 | 0 | 0 | 18 |
| AutG1621 | DBH | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG79813 | EHMT1 | 0 | 0 | 1 | 0 | 0 | 1 | 12 |
| AutG8019 | BRD3 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG9858 | KIAA0649 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG9022 | CLIC3 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG10811 | NOXA1 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG57582 | KCNT1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9919 | SEC16A | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG55684 | C9orf86 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG2902 | GRIN1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG6621 | SNAPC4 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG389812 | LCN15 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG6256 | RXRA | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG5900 | RALGDS | 0 | 0 | 0 | 1 | 0 | 0 | 1 |