Detail Information of AutCNV0000696
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 | |||||
| Not Mentioned |  | | ASD | - | - | - | - | 396 | 5023 | 5419 | Berkel, 2010 |
| Complication: | Yes | ||||||||||
| Population: | Canada | ||||||||||
| Platform: | Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | null | ||||||||||
| Band: | 20q13.33 | ||||||||||
| Evidences: | CNVs Not Present In Control; | ||||||||||
| Region: | Chr20: 58466605-62965520 | ||||||||||
| 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 | |||
| AutG1917 | EEF1A2 | 0 | 1 | 2 | 0 | 1 | 0 | 36 |
| AutG79144 | PPDPF | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG6725 | SRMS | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG5753 | PTK6 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG3911 | LAMA5 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG128414 | NKAIN4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG57642 | COL20A1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG10732 | TCFL5 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG55738 | ARFGAP1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG54923 | LIME1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |