Detail Information of AutCNV0000700
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: | 8p21 | ||||||||||
| Evidences: | CNVs Only Present In Patients; CNVs Not Present In Control; | ||||||||||
| Region: | Chr8: 19055720-29644081 | ||||||||||
| 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 | |||
| AutG2185 | PTK2B | 0 | 1 | 0 | 1 | 1 | 1 | 9 |
| AutG23087 | TRIM35 | 0 | 1 | 0 | 0 | 1 | 1 | 8 |
| AutG81551 | STMN4 | 0 | 1 | 0 | 0 | 1 | 1 | 8 |
| AutG4747 | NEFL | 1 | 0 | 0 | 1 | 1 | 1 | 7 |
| AutG2675 | GFRA2 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG8795 | TNFRSF10B | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG4741 | NEFM | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG203190 | LGI3 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG9796 | PHYHIP | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG1808 | DPYSL2 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG10174 | SORBS3 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG51312 | SLC25A37 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG55246 | CCDC25 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG1191 | CLU | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG55893 | ZNF395 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG1846 | DUSP4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG51435 | SCARA3 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5368 | PNOC | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG79618 | HMBOX1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |