Detail Information of AutCNV0000713


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 |


Abbreviations: 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. |


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 |
AutG2925 | GRPR | 0 | 0 | 3 | 0 | 1 | 0 | 23 |
AutG11141 | IL1RAPL1 | 0 | 0 | 3 | 0 | 1 | 0 | 23 |
AutG5613 | PRKX | 0 | 2 | 1 | 0 | 1 | 0 | 21 |
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 |
AutG778 | CACNA1F | 0 | 0 | 2 | 0 | 1 | 0 | 16 |
AutG8242 | KDM5C | 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 |
AutG4129 | MAOB | 0 | 0 | 1 | 1 | 1 | 0 | 10 |
AutG2002 | ELK1 | 0 | 0 | 1 | 1 | 1 | 0 | 10 |
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 |
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 |
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 |
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 |
AutG6303 | SAT1 | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
AutG4267 | CD99 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
AutG64061 | TSPYL2 | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
AutG8544 | PIR | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
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 |
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 |
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AutismKB Statistics
- Studies: 616
- Genes: 3,075
- SNPs/VNTRs: 3,386
- CNVs: 4,617
- Linkage Regions: 158
- Last Update: 05/25/2012
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