Detail Information of AutCNV0000671
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 | - | - | - | - | 1 | - | 1 | Vazna, 2010 |
| Complication: | MR | ||||||||||
| Population: | Czech | ||||||||||
| Platform: | Nimblegen custom array | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | Xp22.1-p22.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | ChrX: 6644160-24159444 | ||||||||||
| 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 |
|---|---|---|---|
| AutG4281 | MID1 | XL | 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. |
| AutG8905 | AP1S2 | XL | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
| AutG4810 | NHS | XL | 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. |
| AutG6792 | CDKL5 | XL | 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 | |||
| AutG6792 | CDKL5 | 0 | 0 | 1 | 0 | 1 | 0 | 36 |
| AutG2925 | GRPR | 0 | 0 | 2 | 0 | 1 | 0 | 22 |
| AutG139411 | PTCHD1 | 1 | 0 | 1 | 0 | 2 | 0 | 16 |
| AutG8544 | PIR | 0 | 0 | 0 | 2 | 1 | 0 | 12 |
| AutG6303 | SAT1 | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
| AutG5256 | PHKA2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG4281 | MID1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5475 | PPEF1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG256714 | MAP7D2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG10549 | PRDX4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |