Detail Information of AutCNV0004325
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 | 1127 | 1127 | - | - | - | - | - | Sanders, 2011 |
| Population: | Simons Simplex Collection | ||||||||||
| Platform: | Illumina Infinium 1M SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16p13.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr16: 60835-1313637 (hg18: Chr16: 835-1253638) | ||||||||||
| 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 | |||
| AutG8912 | CACNA1H | 0 | 0 | 1 | 0 | 0 | 1 | 22 |
| AutG197335 | WDR90 | 0 | 0 | 1 | 0 | 0 | 1 | 12 |
| AutG4833 | NME4 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG57799 | RAB40C | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9028 | RHBDL1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG8131 | NPRL3 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9727 | RAB11FIP3 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG79006 | METRN | 0 | 0 | 0 | 1 | 0 | 1 | 3 |