Detail Information of AutCNV0000025
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 | 1491 | - | - | - | - | - | 0 | Szatmari, 2007 |
| Population: | Europe, North America | ||||||||||
| Platform: | Affymetrix 10K v2 SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q11.2-12 | ||||||||||
| Evidences: | CNVs Overlapping With ACRD; | ||||||||||
| Region: | Chr15: 23939207-28024805 (hg17: Chr15: 21490300-25698400) | ||||||||||
| 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 | 41 |
| AutG7337 | UBE3A | 1 | 0 | 1 | 1 | 2 | 0 | 25 |
| AutG2558 | GABRA5 | 1 | 0 | 1 | 2 | 3 | 0 | 20 |
| AutG57194 | ATP10A | 2 | 0 | 0 | 0 | 2 | 0 | 9 |
| AutG2567 | GABRG3 | 1 | 0 | 0 | 0 | 3 | 0 | 8 |
| AutG6638 | SNRPN | 1 | 0 | 0 | 0 | 2 | 0 | 6 |