Detail Information of AutCNV0000399
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 | 2 | - | 2 | - | 3 | 267 | 270 | van der Zwaag, 2009 |
| Population: | Holland | ||||||||||
| Platform: | Illumina HumanHap300 Genotyping Beadchip | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q11.2 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr15: 22755185-23226254 (hg17: Chr15: 20306549-20777695) | ||||||||||
| 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 | |||
| AutG23191 | CYFIP1 | 1 | 0 | 1 | 1 | 3 | 0 | 19 |
| AutG114791 | TUBGCP5 | 0 | 0 | 0 | 2 | 3 | 0 | 8 |
| AutG81614 | NIPA2 | 0 | 0 | 0 | 1 | 3 | 0 | 7 |