Detail Information of AutCNV0000823
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 | - | - | - | - | 996 | 1287 | 2283 | Pinto, 2010 |
| Population: | - | ||||||||||
| Platform: | Illumina Infinium 1M SNP array | ||||||||||
| Method: | SNP microarray, qPCR | ||||||||||
| Marker: | - | ||||||||||
| Band: | 12q13.2-14.1 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr12: 55932655-60493348 (hg18: Chr12: 54218922-58779615) | ||||||||||
| 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 |
|---|---|---|---|
| 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 | |||
| AutG4035 | LRP1 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG3798 | KIF5A | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG51561 | IL23A | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG6171 | RPL41 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG27165 | GLS2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG2583 | B4GALNT1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG6866 | TAC3 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |