Evidence Details for ATP5EP2
Basic Information
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| Gene Symbol: | ATP5EP2 ( - ) |
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| Gene Full Name: | ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 |
|---|
| Band: | 13q12.2 |
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| Quick Links | Entrez ID:432369; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 34026 |
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| Relate to Another Database: |
SFARIGene;
denovo-db |
Evidence summary
TopClick 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
TopGenome-Wide Association Studies(By Ethnic Group)
Top 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 |
| Allen-Brady, 2010 |
USA |
SNP-based genomic screen |  | | ASD |
40 |
- |
40 |
- |
192 |
461 |
653 |
Low Scale Association Studies (by Ethnic Group)
Top 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
Top 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. |
NGS
de novo Mutation Studies
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| Reference |
Case Number |
Family Number |
de novo Number |
Title |
| De Rubeis S, 2014 |
2270 |
- |
1702 |
Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies
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| Reference |
Case Number |
Family Number |
Mosaic Number |
Title |
| No matched NGS Mosaic SNVs! |
NGS Other Studies
Top
| Reference |
Source |
Platform |
ADI-R |
ADOS |
Diagnosis |
Family |
Affected |
Validation Method |
| Total |
Simplex |
Multiplex |
| No matched NGS Other Studies! |
Low Scale Gene Studies
TopAbbreviations: AD, autistic disorder; ASD: autism spectrum disorder.
| Reference |
Organism |
Tissue |
ADI-R |
ADOS |
Diagnosis |
Evidence Level |
Result |
| No Evidence. |
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