Detail Information of AutCNV0000189
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 | |||||
| Mixed |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | Marshall, 2008 |
| Population: | - | ||||||||||
| Platform: | Affymetrix 500K array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 22q11.2 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; Other; Denovo CNVs; | ||||||||||
| Region: | Chr22: 18890946-23222208 (hg17: Chr22: 17265500-21546762) | ||||||||||
| 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 |
|---|---|---|---|
| AutG6899 | TBX1 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
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 | |||
| AutG54584 | GNB1L | 0 | 1 | 1 | 0 | 2 | 1 | 20 |
| AutG5594 | MAPK1 | 0 | 0 | 1 | 0 | 1 | 1 | 14 |
| AutG1312 | COMT | 2 | 0 | 0 | 0 | 2 | 1 | 10 |
| AutG7122 | CLDN5 | 0 | 0 | 0 | 2 | 2 | 1 | 8 |
| AutG9993 | DGCR2 | 0 | 0 | 0 | 1 | 2 | 1 | 7 |
| AutG3053 | SERPIND1 | 0 | 0 | 0 | 1 | 2 | 1 | 7 |
| AutG25787 | DGCR9 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG7332 | UBE2L3 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG23753 | SDF2L1 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG9647 | PPM1F | 0 | 0 | 0 | 1 | 1 | 0 | 3 |