Detail Information of AutCNV0000012
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 |  |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | Sebat, 2007 |
| Population: | USA | ||||||||||
| Platform: | Agilent 244K array, 390K ROMA array | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16p11.2 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr16: 29671214-30173788 (hg17: Chr16: 29578715-30081289) | ||||||||||
| 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 | |||
| AutG5595 | MAPK3 | 0 | 0 | 2 | 0 | 2 | 0 | 34 |
| AutG112476 | PRRT2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG9344 | TAOK2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |