Detail Information of AutCNV0000689
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 | |||||
| Not Mentioned |  | | ASD | - | - | - | - | 396 | 5023 | 5419 | Berkel, 2010 |
| Complication: | Yes | ||||||||||
| Population: | Canada | ||||||||||
| Platform: | Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | null | ||||||||||
| Band: | 12q21.2 | ||||||||||
| Evidences: | CNVs Only Present In Patients; CNVs Not Present In Control; | ||||||||||
| Region: | Chr12: 75813734-80175869 | ||||||||||
| Gain/Loss: | Loss | ||||||||||
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 | |||
| AutG6857 | SYT1 | 0 | 0 | 0 | 1 | 1 | 0 | 13 |
| AutG11103 | KRR1 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG1466 | CSRP2 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG114882 | OSBPL8 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |