Detail Information of AutCNV0000148
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 | |||||
| Mixed |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | Marshall, 2008 |
| Population: | - | ||||||||||
| Platform: | Affymetrix 500K array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q11.2-13.3 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr15: 20116186-32511508 (hg17: Chr15: 18376200-30298800) | ||||||||||
| 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 |
| AutG321 | APBA2 | 0 | 0 | 1 | 0 | 2 | 1 | 26 |
| AutG7337 | UBE3A | 1 | 0 | 1 | 1 | 2 | 0 | 25 |
| AutG2558 | GABRA5 | 1 | 0 | 1 | 2 | 3 | 0 | 20 |
| AutG23191 | CYFIP1 | 1 | 0 | 1 | 1 | 3 | 0 | 19 |
| AutG22909 | FAN1 | 0 | 0 | 1 | 0 | 2 | 1 | 16 |
| AutG57194 | ATP10A | 2 | 0 | 0 | 0 | 2 | 0 | 9 |
| AutG2567 | GABRG3 | 1 | 0 | 0 | 0 | 3 | 0 | 8 |
| AutG114791 | TUBGCP5 | 0 | 0 | 0 | 2 | 3 | 0 | 8 |
| AutG81614 | NIPA2 | 0 | 0 | 0 | 1 | 3 | 0 | 7 |
| AutG6638 | SNRPN | 1 | 0 | 0 | 0 | 2 | 0 | 6 |
| AutG390535 | GOLGA8E | 0 | 0 | 0 | 1 | 2 | 0 | 5 |