Detail Information of AutCNV0000400
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 | - | - | - | - | 2 | 1577 | 1579 | Crepel, 2009 |
| Complication: | ADHD, mild mental retardation | ||||||||||
| Population: | Belgium | ||||||||||
| Platform: | in-house 1 Mb micro-array containing clones from the 1 Mb Bacterial Artificial Chromosome (BAC/PAC) clone set generously donated by the Sanger Institute | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 1q42.2 | ||||||||||
| Evidences: | CNVs Not Present In Control; | ||||||||||
| Region: | Chr1: 233492174-235541047 (hg17: Chr1: 229798909-231867088) | ||||||||||
| 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 |
|---|---|---|---|
| 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 | |||
| AutG6894 | TARBP1 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG9804 | TOMM20 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG359948 | IRF2BP2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |