Detail Information of AutCNV0000293
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 |  | | autsim | - | - | - | - | 1 | - | 1 | Nakamine, 2008 |
| Complication: | language delay | ||||||||||
| Population: | Costa Rica | ||||||||||
| Platform: | Affymetrix GeneChip human mapping 500K array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 17p11.2 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr17: 16457316-20524119 (hg17: Chr17: 16398041-20464711) | ||||||||||
| 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 |
|---|---|---|---|
| AutG10743 | RAI1 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been 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 | |||
| AutG5636 | PRPSAP2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |