Detail Information of AutCNV0000139
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 | |||||
| Mixed |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | Marshall, 2008 |
| Population: | - | ||||||||||
| Platform: | Affymetrix 500K array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 3p25.1-24.3 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr3: 15150796-16560396 (hg17: Chr3: 15125800-16535400) | ||||||||||
| 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 |
|---|---|---|---|
| AutG686 | BTD | AR | Level 1: The gene has only been reported in single cases 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 | |||
| AutG85403 | EAF1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |