Detail Information of AutCNV0000018
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 | ![]() | ![]() | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | Weiss, 2008 |
| Population: | USA, Ireland | ||||||||||
| Platform: | Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip | ||||||||||
| Method: | aCGH, SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16p11.2 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; Denovo CNVs; | ||||||||||
| Region: | Chr16: 27692499-34542499 (Deduced by Band) | ||||||||||
| Gain/Loss: | 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 | |||
| AutG5595 | MAPK3 | 0 | 0 | 2 | 0 | 2 | 0 | 34 |
| AutG10295 | BCKDK | 0 | 0 | 1 | 0 | 2 | 0 | 22 |
| AutG146395 | GSG1L | 0 | 1 | 0 | 0 | 2 | 0 | 8 |
| AutG112476 | PRRT2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG115509 | ZNF689 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG9739 | SETD1A | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG3684 | ITGAM | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG9344 | TAOK2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG22928 | SEPHS2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG78994 | PRR14 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |



