Detail Information of AutCNV0000349
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 | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 | Zwaag, 2009 |
| Population: | - | ||||||||||
| Platform: | Illumina Humanhap300 Beadchip | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | S100A5 | ||||||||||
| Band: | 1q21.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; Significant Enriched CNVs; | ||||||||||
| Region: | Chr1: 151333376-155033376 (Deduced by Band) | ||||||||||
| Gain/Loss: | |||||||||||
2. Related Syndromic Genes Top
Abbreviations: 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 | |||
| AutG23126 | POGZ | 0 | 0 | 3 | 0 | 1 | 1 | 62 |
| AutG57198 | ATP8B2 | 0 | 0 | 0 | 1 | 1 | 1 | 15 |
| AutG103 | ADAR | 0 | 0 | 1 | 0 | 1 | 1 | 14 |
| AutG6281 | S100A10 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG6279 | S100A8 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG5872 | RAB13 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG6282 | S100A11 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG140576 | S100A16 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG3782 | KCNN3 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |


