Evidence Details for SNORD116-4
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Basic Information
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Gene Symbol: | SNORD116-4 ( HBII-85-4 ) |
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Gene Full Name: | small nucleolar RNA, C/D box 116-4 |
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Band: | 15q11.2 |
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Quick Links | Entrez ID:100033416; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 33070 |
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Relate to Another Database: |
SFARIGene;
denovo-db |
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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. ![](img/show.gif)
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. |
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CNV Studies
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Reference |
Source |
Method |
ADI-R |
ADOS |
Diagnosis |
Family |
Individual |
Total |
Simplex |
Multiplex |
Control |
Affected |
Control |
Total |
Wolpert, 2000 |
- |
STS mapping | ![](img/accept.png) | ![](img/delete.png) | autism |
3 |
- |
3 |
- |
3 |
- |
3 |
Wassink, 2001 |
USA |
Chromosomal analysis of G-band | ![](img/delete.png) | ![](img/delete.png) | autism |
- |
- |
- |
- |
278 |
- |
278 |
Silva, 2002 |
- |
FISH | ![](img/delete.png) | ![](img/delete.png) | autism |
- |
- |
- |
- |
1 |
- |
1 |
Keller, 2003 |
USA |
FISH | ![](img/delete.png) | ![](img/accept.png) | ASD |
- |
- |
- |
- |
2 |
- |
2 |
Mann, 2004 |
- |
STS mapping | ![](img/accept.png) | ![](img/accept.png) | PDD-NOS |
- |
- |
- |
- |
2 |
- |
2 |
Sahoo, 2005 |
USA |
aCGH | ![](img/accept.png) | ![](img/delete.png) | autism |
- |
- |
- |
- |
9 |
- |
9 |
Jacquemont, 2006 |
France |
aCGH | ![](img/delete.png) | ![](img/delete.png) | ASD |
- |
- |
- |
- |
29 |
- |
29 |
Sebat, 2007 |
USA |
aCGH | ![](img/accept.png) | ![](img/delete.png) | autism |
165 |
118 |
47 |
99 |
195 |
196 |
391 |
Wassink, 2007 |
USA |
FISH | ![](img/delete.png) | ![](img/delete.png) | PDD |
- |
- |
- |
- |
104 |
- |
104 |
Szatmari, 2007 |
Europe, North America |
SNP microarray | ![](img/accept.png) | ![](img/accept.png) | ASD |
1491 |
- |
- |
- |
- |
- |
0 |
Kwasnicka-Crawford, 2007 |
- |
STS mapping | ![](img/accept.png) | ![](img/accept.png) | autism |
- |
- |
- |
- |
1 |
- |
1 |
Weiss, 2008 |
USA, Ireland |
aCGH, SNP microarray | ![](img/accept.png) | ![](img/delete.png) | ASD |
751 |
- |
- |
- |
2252 |
23502 |
25754 |
Marshall, 2008 |
- |
SNP microarray | ![](img/accept.png) | ![](img/accept.png) | ASD |
427 |
238 |
189 |
- |
427 |
500 |
927 |
Christian, 2008 |
USA |
aCGH | ![](img/accept.png) | ![](img/accept.png) | ASD |
397 |
35 |
362 |
- |
397 |
372 |
769 |
Gregory, 2009 |
USA |
aCGH | ![](img/accept.png) | ![](img/delete.png) | ASD |
- |
- |
- |
- |
119 |
54 |
173 |
Bremer, 2009 |
- |
aCGH | ![](img/accept.png) | ![](img/accept.png) | ASD |
- |
- |
- |
- |
148 |
- |
148 |
Pinto, 2010 |
- |
SNP microarray, qPCR | ![](img/accept.png) | ![](img/accept.png) | ASD |
- |
- |
- |
- |
996 |
1287 |
2283 |
Levy, 2011 |
Simons Simplex Collection |
aCGH | - | - | ASD |
915 |
915 |
- |
- |
- |
- |
- |
Sanders, 2011 |
Simons Simplex Collection |
SNP microarray | - | - | ASD |
1127 |
1127 |
- |
- |
- |
- |
- |
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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 ! |
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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. |
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Large Scale Expression Studies
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Microarray Studies: 0
Reference |
Source |
Tissue |
#Subjects (% Women) |
ADI-R |
ADOS |
Endo- pheno |
Diagnosis |
Normal Controls (% Women) |
Fold Change |
Up/ Down |
P/Q value |
No Evidence. |
Proteomics Studies:0
Reference |
Source |
Tissue |
Platform |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Normal Controls(% Women) |
No Evidence. |
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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! |
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NGS Mosaic SNV Studies
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Reference |
Case Number |
Family Number |
Mosaic Number |
Title |
No matched NGS Mosaic SNVs! |
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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! |
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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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