Detail Information of AutCNV0000082
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: | 8q22.3-24.3 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
| Region: | Chr8: 104716824-142002818 (hg17: Chr8: 104786000-142072000) | ||||||||||
| 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 |
|---|---|---|---|
| No data! | |||
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 | |||
| AutG23167 | EFR3A | 0 | 0 | 1 | 0 | 0 | 0 | 30 |
| AutG2131 | EXT1 | 0 | 0 | 1 | 0 | 0 | 0 | 22 |
| AutG114788 | CSMD3 | 0 | 0 | 1 | 0 | 0 | 0 | 20 |
| AutG3786 | KCNQ3 | 0 | 0 | 1 | 0 | 0 | 0 | 20 |
| AutG55074 | OXR1 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG22882 | ZHX2 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG6713 | SQLE | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9788 | MTSS1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG10221 | TRIB1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG114569 | MAL2 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG5168 | ENPP2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG5820 | PVT1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG4856 | NOV | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG6641 | SNTB1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG50807 | ASAP1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |