Detail Information of AutCNV0000716
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 | - | - | - | - | 223 | - | 223 | Bremer, 2011 |
| Population: | - | ||||||||||
| Platform: | Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 3q27.2-q29 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr3: 184984300-196342422 (hg18: Chr3: 186466994-197826819) | ||||||||||
| 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 | |||
| AutG84239 | ATP13A4 | 0 | 0 | 2 | 0 | 1 | 1 | 24 |
| AutG2257 | FGF12 | 0 | 0 | 0 | 1 | 1 | 1 | 15 |
| AutG3827 | KNG1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG604 | BCL6 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG131583 | FAM43A | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG6434 | TRA2B | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG6750 | SST | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG152137 | CCDC50 | 0 | 0 | 0 | 3 | 0 | 0 | 3 |
| AutG10188 | TNK2 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9175 | MAP3K13 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG197 | AHSG | 0 | 0 | 0 | 1 | 0 | 1 | 3 |