Detail Information of AutCNV0005122
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 | |||||
| Han Chinese |  |  | ASD | - | - | - | - | 66 | 100 | 166 | Siu WK, 2016 |
| Population: | Hong Kong | ||||||||||
| Platform: | NimbleGen CGX-135K oligonucleotide arrays | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q23q24.1 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr15: - (hg18: Chr15: 69471038-71439732) | ||||||||||
| 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 |
|---|---|---|---|
| AutG340533 | KIAA2022 | XL | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
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 | |||
| AutG340533 | KIAA2022 | 0 | 0 | 2 | 0 | 1 | 0 | 22 |