Detail Information of AutCNV0004690
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 | |||||
| - |  |  | autism | - | - | - | - | 2 | - | 2 | Yasuda Y, 2014 |
| Complication: | Y | ||||||||||
| Population: | Japan | ||||||||||
| Platform: | Affymetrix CytoScan? HD array | ||||||||||
| Method: | - | ||||||||||
| Marker: | - | ||||||||||
| Band: | 2q13 | ||||||||||
| Evidences: | CNVs Only Present In Patients; Denovo CNVs; | ||||||||||
| Region: | Chr2: 110504318-110980108 | ||||||||||
| 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 |
|---|---|---|---|
| AutG4867 | NPHP1 | 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 | |||
| AutG1312 | COMT | 2 | 0 | 0 | 0 | 2 | 1 | 10 |