Detail Information of AutCNV0000279
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  | | PDD | - | - | - | - | 104 | - | - | Wassink, 2007 |
| Population: | USA | ||||||||||
| Platform: | - | ||||||||||
| Method: | FISH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q11.2-13 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr15: 18400000 - 31400000 (Deduced by Band) | ||||||||||
| Gain/Loss: | gain | ||||||||||
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 |
|---|---|---|---|
| AutG7337 | UBE3A | AD | Level 4: The disorder is 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 | |||
| AutG2562 | GABRB3 | 2 | 0 | 3 | 1 | 3 | 0 | 34 |
| AutG2558 | GABRA5 | 1 | 0 | 2 | 2 | 3 | 0 | 25 |
| AutG114791 | TUBGCP5 | 0 | 0 | 2 | 2 | 3 | 0 | 22 |
| AutG23191 | CYFIP1 | 0 | 0 | 2 | 1 | 3 | 0 | 21 |
| AutG123606 | NIPA1 | 0 | 0 | 2 | 0 | 3 | 0 | 20 |
| AutG7337 | UBE3A | 1 | 0 | 1 | 1 | 3 | 0 | 17 |
| AutG2567 | GABRG3 | 1 | 0 | 1 | 0 | 3 | 0 | 16 |
| AutG81614 | NIPA2 | 0 | 0 | 1 | 1 | 3 | 0 | 14 |
| AutG1139 | CHRNA7 | 0 | 0 | 1 | 0 | 3 | 1 | 14 |
| AutG321 | APBA2 | 0 | 0 | 1 | 0 | 3 | 1 | 14 |
| AutG57194 | ATP10A | 2 | 0 | 0 | 0 | 3 | 0 | 12 |
| AutG6638 | SNRPN | 1 | 0 | 0 | 0 | 3 | 0 | 9 |
| AutG390535 | GOLGA8E | 0 | 0 | 0 | 1 | 3 | 0 | 7 |
