Detail Information of AutCNV0000713
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Hispanic |  |  | autism | - | - | - | - | 1 | - | - | Edens, 2011 |
| Complication: | epilepsy | ||||||||||
| Population: | Honduras | ||||||||||
| Platform: | - | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | Xp11.2-p22.33 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | ChrX: 0 - 56600000 (Deduced by Band) | ||||||||||
| Gain/Loss: | gain | ||||||||||
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion | | | autism | - | - | - | - | 1 | - | - | Edens, 2011 |
| Complication: | epilepsy | ||||||||||
| Population: | Austria | ||||||||||
| Platform: | - | ||||||||||
| Method: | FISH, aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | Xp11.2-p22.33 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | ChrX: 0 - 56600000 (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 |
|---|---|---|---|
| AutG57502 | NLGN4X | XL | 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. |
| AutG4281 | MID1 | XL | 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. |
| AutG8905 | AP1S2 | XL | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
| AutG4810 | NHS | XL | 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. |
| AutG6792 | CDKL5 | XL | 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. |
| AutG170302 | ARX | XL | 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. |
| AutG11141 | IL1RAPL1 | XL | 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. |
| AutG1756 | DMD | XL | 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. |
| AutG5009 | OTC | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG8573 | CASK | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG4693 | NDP | XL | 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. |
| AutG641339 | ZNF674 | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG6853 | SYN1 | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG347344 | ZNF81 | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG24140 | FTSJ1 | XL | 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. |
| AutG10084 | PQBP1 | XL | 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. |
| AutG778 | CACNA1F | XL | 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. |
| AutG8242 | KDM5C | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG23096 | IQSEC2 | XL | 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. |
| AutG8243 | SMC1A | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
| AutG23133 | PHF8 | XL | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
| AutG2245 | FGD1 | XL | 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 | |||
| AutG57502 | NLGN4X | 1 | 2 | 3 | 0 | 1 | 0 | 38 |
| AutG4128 | MAOA | 1 | 0 | 3 | 0 | 1 | 0 | 26 |
| AutG438 | ASMT | 1 | 0 | 3 | 0 | 1 | 0 | 26 |
| AutG11141 | IL1RAPL1 | 0 | 0 | 3 | 0 | 1 | 0 | 23 |
| AutG2925 | GRPR | 0 | 0 | 3 | 0 | 1 | 0 | 23 |
| AutG5613 | PRKX | 0 | 2 | 1 | 0 | 1 | 0 | 21 |
| AutG778 | CACNA1F | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
| AutG8242 | KDM5C | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
| AutG6197 | RPS6KA3 | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
| AutG170302 | ARX | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
| AutG8573 | CASK | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
| AutG1756 | DMD | 0 | 2 | 0 | 0 | 1 | 0 | 14 |
| AutG7076 | TIMP1 | 0 | 0 | 1 | 2 | 1 | 0 | 11 |
| AutG2002 | ELK1 | 0 | 0 | 1 | 1 | 1 | 0 | 10 |
| AutG4129 | MAOB | 0 | 0 | 1 | 1 | 1 | 0 | 10 |
| AutG2245 | FGD1 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG2824 | GPM6B | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG7216 | TRO | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG6792 | CDKL5 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG22866 | CNKSR2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG83604 | TMEM47 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG6990 | DYNLT3 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG10159 | ATP6AP2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG1654 | DDX3X | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG6853 | SYN1 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG3750 | KCND1 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG54328 | GPR173 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG357 | SHROOM2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG65267 | WNK3 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG9758 | FRMPD4 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG54552 | GNL3L | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG2742 | GLRA2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG30011 | SH3KBP1 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG9468 | PCYT1B | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG7102 | TSPAN7 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG8239 | USP9X | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG92745 | SLC38A5 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG10013 | HDAC6 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG56850 | GRIPAP1 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG89801 | PPP1R3F | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG23096 | IQSEC2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG1183 | CLCN4 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG90121 | TSR2 | 0 | 0 | 1 | 0 | 1 | 0 | 9 |
| AutG6303 | SAT1 | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
| AutG8544 | PIR | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG4267 | CD99 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG64061 | TSPYL2 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG5256 | PHKA2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG256714 | MAP7D2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5422 | POLA1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG9767 | PHF16 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG7454 | WAS | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG4281 | MID1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5475 | PPEF1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG10549 | PRDX4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG1536 | CYBB | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG26823 | RNU12-2P | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
Quick Search:
Syndromic Genes
Non-syndromic Genes
AutismKB Statistics
- Studies: 616
- Genes: 3,075
- SNPs/VNTRs: 3,386
- CNVs: 4,617
- Linkage Regions: 158
- Last Update: 05/25/2012
- Click to Download Data
