Detail Information of AutCNV0000146
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: | 12q24.21-24.33 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr12: 115707280-133777650 (hg17: Chr12: 114170000-132388000) | ||||||||||
| 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 |
|---|---|---|---|
| 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 | |||
| AutG196383 | RILPL2 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG92558 | CCDC64 | 0 | 2 | 0 | 0 | 0 | 1 | 10 |
| AutG114795 | TMEM132B | 0 | 1 | 0 | 0 | 0 | 1 | 6 |
| AutG23457 | ABCB9 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG8408 | ULK1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG26353 | HSPB8 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG23141 | ANKLE2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG54997 | TESC | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG9478 | CABP1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG6249 | CLIP1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG10959 | TMED2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG949 | SCARB1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG5319 | PLA2G1B | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG605 | BCL7A | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG65117 | RSRC2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG80212 | CCDC92 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |