Detail Information of AutCNV0000102
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 | |||||
| Caucasion |  | | ASD | 1491 | - | - | - | - | - | 0 | Szatmari, 2007 |
| Population: | Europe, North America | ||||||||||
| Platform: | Affymetrix 10K v2 SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 12q12-24.33 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
| Region: | Chr12: 46092533-132022120 (hg17: Chr12: 44378800-130547000) | ||||||||||
| 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 |
|---|---|---|---|
| AutG80184 | CEP290 | AR | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
| AutG5053 | PAH | AR | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
| AutG5781 | PTPN11 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
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 | |||
| AutG552 | AVPR1A | 2 | 0 | 2 | 0 | 0 | 0 | 24 |
| AutG23426 | GRIP1 | 1 | 0 | 1 | 0 | 0 | 1 | 14 |
| AutG79158 | GNPTAB | 0 | 1 | 0 | 0 | 0 | 0 | 14 |
| AutG9119 | KRT75 | 0 | 0 | 0 | 1 | 0 | 1 | 13 |
| AutG6857 | SYT1 | 0 | 0 | 0 | 1 | 1 | 0 | 13 |
| AutG121551 | BTBD11 | 0 | 0 | 0 | 1 | 0 | 1 | 13 |
| AutG8091 | HMGA2 | 0 | 0 | 1 | 0 | 0 | 1 | 12 |
| AutG5153 | PDE1B | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG3798 | KIF5A | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG196383 | RILPL2 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG4035 | LRP1 | 0 | 0 | 0 | 1 | 0 | 0 | 11 |
| AutG3458 | IFNG | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG92558 | CCDC64 | 0 | 2 | 0 | 0 | 0 | 1 | 10 |
| AutG51561 | IL23A | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG7471 | WNT1 | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG160762 | CCDC63 | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG11103 | KRR1 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG114795 | TMEM132B | 0 | 1 | 0 | 0 | 0 | 1 | 6 |
| AutG1466 | CSRP2 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG4633 | MYL2 | 0 | 1 | 0 | 0 | 0 | 0 | 4 |
| AutG3848 | KRT1 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG23457 | ABCB9 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG121278 | TPH2 | 2 | 0 | 0 | 0 | 0 | 0 | 4 |
| AutG55832 | CAND1 | 1 | 0 | 0 | 0 | 0 | 1 | 4 |
| AutG8835 | SOCS2 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG7184 | HSP90B1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG1407 | CRY1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG23017 | FAIM2 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG5204 | PFDN5 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG440101 | FLJ12825 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG114882 | OSBPL8 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG694 | BTG1 | 0 | 0 | 0 | 3 | 0 | 0 | 3 |
| AutG55785 | FGD6 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG5992 | RFX4 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9498 | SLC4A8 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG3853 | KRT6A | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG26353 | HSPB8 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG3695 | ITGB7 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG7786 | MAP3K12 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG25946 | ZNF385A | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG4604 | MYBPC1 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG55530 | SVOP | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG29902 | C12orf24 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| AutG5801 | PTPRR | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG4060 | LUM | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG7112 | TMPO | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG387856 | C12orf68 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG10376 | TUBA1B | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG4938 | OAS1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| 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 |
| AutG6866 | TAC3 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG949 | SCARB1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG27345 | KCNMB4 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG400 | ARL1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG400073 | C12orf76 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG23416 | KCNH3 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG80018 | NAA25 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG8437 | RASAL1 | 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 |
| AutG6171 | RPL41 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG27165 | GLS2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG80212 | CCDC92 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG2583 | B4GALNT1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |