Detail Information of AutCNV0000249
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 |  | | PDD | 105 | - | 105 | - | - | 668 | 668 | Yu, 2002 |
| Population: | USA | ||||||||||
| Platform: | - | ||||||||||
| Method: | STS mapping | ||||||||||
| Marker: | D7S517 | ||||||||||
| Band: | 7p22.2-22.1 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
| Region: | Chr7: 2133474-7233475 (Deduced by Band) | ||||||||||
| 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 | |||
| AutG5879 | RAC1 | 0 | 1 | 1 | 0 | 1 | 0 | 16 |
| AutG222962 | SLC29A4 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG441191 | RNF216L | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG55501 | CHST12 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG9265 | CYTH3 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG56913 | C1GALT1 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG2768 | GNA12 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |