Detail Information of AutCNV0000017
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  |  | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | Weiss, 2008 |
| Population: | USA, Ireland | ||||||||||
| Platform: | Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip | ||||||||||
| Method: | aCGH, SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16p11.2 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; Denovo CNVs; | ||||||||||
| Region: | Chr16: 27600000 - 34400000 (Deduced by Band) | ||||||||||
| 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 | |||
| AutG5595 | MAPK3 | 0 | 0 | 3 | 0 | 3 | 0 | 27 |
| AutG26470 | SEZ6L2 | 0 | 0 | 3 | 0 | 3 | 0 | 27 |
| AutG9344 | TAOK2 | 0 | 0 | 1 | 1 | 3 | 0 | 14 |
| AutG8479 | HIRIP3 | 0 | 0 | 1 | 0 | 3 | 0 | 13 |
| AutG8448 | DOC2A | 0 | 0 | 1 | 0 | 3 | 0 | 13 |
| AutG78994 | PRR14 | 0 | 0 | 1 | 1 | 2 | 0 | 12 |
| AutG115509 | ZNF689 | 0 | 0 | 1 | 1 | 2 | 0 | 12 |
| AutG9739 | SETD1A | 0 | 0 | 1 | 1 | 2 | 0 | 12 |
| AutG3684 | ITGAM | 0 | 0 | 1 | 1 | 2 | 0 | 12 |
| AutG92595 | ZNF764 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG146540 | ZNF785 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG10847 | SRCAP | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG90835 | C16orf93 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG9274 | BCL7C | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG283932 | NCRNA00095 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG93129 | ORAI3 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG80270 | HSD3B7 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG6810 | STX4 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG9726 | ZNF646 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG10295 | BCKDK | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG5652 | PRSS8 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG2521 | FUS | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG260434 | PYDC1 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG3687 | ITGAX | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG1339 | COX6A2 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG7041 | TGFB1I1 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG64755 | C16orf58 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG23247 | KIAA0556 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG100132341 | KIAA0664L3 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG10308 | ZNF267 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG386757 | SLC6A10P | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG146542 | ZNF688 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG64319 | FBRS | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG5261 | PHKG2 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG9810 | RNF40 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG1489 | CTF1 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG54620 | FBXL19 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG112755 | STX1B | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG79759 | ZNF668 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG79001 | VKORC1 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG84148 | MYST1 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG146547 | PRSS36 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG29108 | PYCARD | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG3681 | ITGAD | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG79798 | ARMC5 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG6524 | SLC5A2 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG51327 | AHSP | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG124411 | ZNF720 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG440362 | HERC2P4 | 0 | 0 | 1 | 0 | 2 | 0 | 11 |
| AutG146395 | GSG1L | 0 | 1 | 0 | 0 | 2 | 0 | 10 |
| AutG27040 | LAT | 1 | 0 | 0 | 0 | 2 | 0 | 7 |
| AutG112476 | PRRT2 | 0 | 0 | 0 | 1 | 3 | 0 | 7 |
| AutG22928 | SEPHS2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
