Detail Information of AutCNV0000134
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 | - | - | - | - | 29 | - | 29 | Jacquemont, 2006 |
| Population: | France | ||||||||||
| Platform: | - | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 21q22 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr21: 39154938-47152380 | ||||||||||
| 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 | |||
| AutG7226 | TRPM2 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG2078 | ERG | 0 | 1 | 0 | 0 | 0 | 0 | 4 |
| AutG3689 | ITGB2 | 0 | 0 | 0 | 3 | 0 | 0 | 3 |
| AutG8624 | PSMG1 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG8209 | C21orf33 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG6573 | SLC19A1 | 1 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG2114 | ETS2 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG754 | PTTG1IP | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG25825 | BACE2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG5121 | PCP4 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG875 | CBS | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG755 | C21orf2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG104 | ADARB1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |