Detail Information of AutCNV0000699
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: | 6p21 | ||||||||||
| Evidences: | CNVs Only Present In Patients; CNVs Not Present In Control; | ||||||||||
| Region: | Chr6: 29792021-45092022 | ||||||||||
| 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 | |||
| AutG721 | C4B | 3 | 0 | 3 | 2 | 1 | 0 | 40 |
| AutG5528 | PPP2R5D | 0 | 0 | 1 | 0 | 1 | 0 | 32 |
| AutG3123 | HLA-DRB1 | 3 | 0 | 2 | 1 | 1 | 0 | 29 |
| AutG10864 | SLC22A7 | 0 | 1 | 0 | 0 | 1 | 0 | 16 |
| AutG24149 | ZNF318 | 0 | 1 | 0 | 0 | 1 | 0 | 16 |
| AutG55633 | TBC1D22B | 0 | 1 | 0 | 0 | 1 | 0 | 14 |
| AutG2739 | GLO1 | 0 | 0 | 1 | 1 | 1 | 0 | 13 |
| AutG5089 | PBX2 | 0 | 0 | 0 | 1 | 1 | 0 | 13 |
| AutG5603 | MAPK13 | 0 | 0 | 0 | 1 | 1 | 0 | 13 |
| AutG6428 | SRSF3 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG84630 | TTBK1 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG401262 | CRIP3 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG89845 | ABCC10 | 0 | 1 | 0 | 0 | 1 | 0 | 6 |
| AutG3106 | HLA-B | 2 | 0 | 0 | 0 | 1 | 0 | 6 |
| AutG3105 | HLA-A | 1 | 0 | 0 | 1 | 1 | 0 | 5 |
| AutG3303 | HSPA1A | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
| AutG1192 | CLIC1 | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
| AutG8870 | IER3 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG534 | ATP6V1G2 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG10695 | CNPY3 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3136 | HLA-H | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG780 | DDR1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG352961 | HCG26 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG259197 | NCR3 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG55937 | APOM | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG7407 | VARS | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3119 | HLA-DQB1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG6046 | BRD2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG29993 | PACSIN1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG2030 | SLC29A1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3135 | HLA-G | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3138 | HLA-K | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG199 | AIF1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3305 | HSPA1L | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3304 | HSPA1B | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3117 | HLA-DQA1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG6890 | TAP1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG6257 | RXRB | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG1026 | CDKN1A | 0 | 0 | 0 | 1 | 1 | 0 | 3 |