Evidence Details for MGC40069

Basic Information
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Gene Symbol: | MGC40069 ( - ) |
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Gene Full Name: | - |
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Band: | 14q11.2 |
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Quick Links | Entrez ID:348035; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: |
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Relate to Another Database: |
SFARIGene;
denovo-db |

Evidence summary
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Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. 
Syndromic Autism Gene
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Genome-Wide Association Studies(By Ethnic Group)
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Family Based Association Studies: 0
Reference |
Stage |
Platform |
#Families |
Affecteds |
Result |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ (range) |
No Evidence. |
Case Control Based Association Studies: 0
Reference |
Stage |
Platform |
ASD Cases |
Normal Controls |
Result |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ |
#Subjects (% Women) |
Age (range) |
No Evidence. |

CNV Studies
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Reference |
Source |
Method |
ADI-R |
ADOS |
Diagnosis |
Family |
Individual |
Total |
Simplex |
Multiplex |
Control |
Affected |
Control |
Total |
No matched CNVs ! |

Linkage Studies
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Reference |
Source |
Method |
ADI-R |
ADOS |
Diagnosis |
Family |
Individual |
Total |
Simplex |
Multiplex |
Control |
Affected |
Control |
Total |
No Matched Linkage Regions ! |

Low Scale Association Studies (by Ethnic Group)
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Family Based Association Studies: 0
Reference |
Source |
Platform |
#Families |
Affecteds |
Result |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ (range) |
No Evidence. |
Case Control Based Association Studies: 0
Reference |
Source |
Platfrom |
ASD Cases |
Normal Controls |
Result |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ |
#Subjects (% Women) |
Age (range) |
No Evidence. |

Large Scale Expression Studies
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Microarray Studies: 1
Reference |
Source |
Tissue |
#Subjects (% Women) |
ADI-R |
ADOS |
Endo- pheno |
Diagnosis |
Normal Controls (% Women) |
Fold Change |
Up/ Down |
P/Q value |
Gregg, 2008_2 |
mixed |
lymphoblastoid cell lines |
17 (11.76%) |  |  | autism with early onset | autism |
12 (25.00%) |
1.727 |
Up |
0.0475 | |
- Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
- ProbeSet: 243602_at
- RefSeq_ID/ EST: AI684979
- GEO_ID: GSE6575
- Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
|
Proteomics Studies:0
Reference |
Source |
Tissue |
Platform |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Normal Controls(% Women) |
No Evidence. |

NGS
de novo Mutation Studies
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Reference |
Case Number |
Family Number |
de novo Number |
Title |
No matched NGS de novo Mutation Studies! |

NGS Mosaic SNV Studies
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Reference |
Case Number |
Family Number |
Mosaic Number |
Title |
No matched NGS Mosaic SNVs! |

NGS Other Studies
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Reference |
Source |
Platform |
ADI-R |
ADOS |
Diagnosis |
Family |
Affected |
Validation Method |
Total |
Simplex |
Multiplex |
No matched NGS Other Studies! |

Low Scale Gene Studies
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Abbreviations: AD, autistic disorder; ASD: autism spectrum disorder.
Reference |
Organism |
Tissue |
ADI-R |
ADOS |
Diagnosis |
Evidence Level |
Result |
No Evidence. |
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