Detail Information of AutCNV0004241
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 | 1127 | 1127 | - | - | - | - | - | Sanders, 2011 |
| Population: | Simons Simplex Collection | ||||||||||
| Platform: | Illumina Infinium 1M SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 5p15.2-p15.33 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
| Region: | Chr5: 28949-13829933 (hg18: Chr5: 81949-13882933) | ||||||||||
| 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 | |||
| AutG9037 | SEMA5A | 0 | 1 | 1 | 1 | 0 | 0 | 33 |
| AutG6531 | SLC6A3 | 0 | 0 | 1 | 0 | 0 | 0 | 30 |
| AutG57491 | AHRR | 0 | 0 | 0 | 1 | 0 | 0 | 21 |
| AutG1501 | CTNND2 | 0 | 1 | 0 | 0 | 1 | 0 | 14 |
| AutG10016 | PDCD6 | 0 | 0 | 0 | 1 | 0 | 0 | 12 |
| AutG50834 | TAS2R1 | 0 | 1 | 0 | 0 | 0 | 0 | 4 |
| AutG4552 | MTRR | 1 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG9319 | TRIP13 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG6715 | SRD5A1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |