Evidence Details for COPG2
Basic Information Top
Gene Symbol: | COPG2 ( 2-COP,DKFZp761N09121,FLJ11781 ) |
---|---|
Gene Full Name: | coatomer protein complex, subunit gamma 2 |
Band: | 7q32.2 |
Quick Links | Entrez ID:26958; OMIM: 604355; Uniprot ID:COPG2_HUMAN; ENSEMBL ID: ; HGNC ID: 2237 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>COPG2|26958|nucleotide
ATGATTAAAAAATTCGACAAGAAGGACGAGGAGTCTGGTAGTGGCTCCAATCCTTTCCAGCATCTGGAGAAGAGTGCTGTTTTACAGGAGGCTCGTATATTCAAT
GAAACTCCAATCAATCCAAGAAGATGTTTGCATATTCTTACAAAGATTCTTTACTTACTGAACCAGGGTGAACACTTTGGAACAACGGAAGCTACAGAAGCCTTC
TTTGCAATGACGCGATTGTTTCAATCTAATGATCAAACATTGAGGAGAATGTGCTACCTTACCATCAAAGAAATGGCTACCATCTCTGAGGATGTGATAATTGTC
ACAAGCAGTCTGACTAAAGACATGACTGGAAAAGAAGATGTATACCGAGGCCCGGCCATCAGAGCTCTCTGCAGGATCACCGATGGAACAATGTTGCAAGCCATT
GAAAGATACATGAAGCAGGCCATTGTGGATAAAGTTTCCAGTGTATCCAGTTCAGCACTGGTATCTTCCCTGCACATGATGAAGATAAGCTATGATGTGGTTAAG
CGCTGGATCAATGAAGCCCAAGAAGCTGCATCAAGTGATAATATTATGGTCCAGTACCATGCATTGGGAGTCCTGTATCACCTTAGAAAGAATGATCGACTTGCT
GTTTCCAAGATGTTGAATAAGTTTACTAAATCTGGTCTCAAGTCACAGTTTGCTTACTGCATGCTGATCCGAATTGCCAGTCGCTTACTAAAAGAAACTGAGGAT
GGCCATGAAAGTCCACTGTTTGATTTCATTGAGAGCTGCTTGCGAAATAAACATGAAATGGTTATTTATGAAGCTGCTTCAGCTATCATCCATCTTCCTAACTGC
ACTGCAAGAGAGTTGGCACCTGCTGTTTCAGTTCTTCAACTTTTCTGTAGTTCTCCTAAGCCAGCCTTGAGATATGCAGCTGTGAGGACCTTGAACAAGGTGGCA
ATGAAGCACCCCTCTGCTGTTACTGCCTGCAATCTGGACTTAGAAAACTTAATCACAGACTCAAACAGAAGCATTGCTACCTTAGCCATTACTACACTCCTCAAA
ACAGGAAGTGAGAGCAGTGTGGACCGGCTCATGAAGCAGATATCTTCTTTTGTGTCTGAAATCTCAGATGAGTTCAAGGTGGTGGTTGTACAGGCAATTAGTGCT
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ATGATTAAAAAATTCGACAAGAAGGACGAGGAGTCTGGTAGTGGCTCCAATCCTTTCCAGCATCTGGAGAAGAGTGCTGTTTTACAGGAGGCTCGTATATTCAAT
GAAACTCCAATCAATCCAAGAAGATGTTTGCATATTCTTACAAAGATTCTTTACTTACTGAACCAGGGTGAACACTTTGGAACAACGGAAGCTACAGAAGCCTTC
TTTGCAATGACGCGATTGTTTCAATCTAATGATCAAACATTGAGGAGAATGTGCTACCTTACCATCAAAGAAATGGCTACCATCTCTGAGGATGTGATAATTGTC
ACAAGCAGTCTGACTAAAGACATGACTGGAAAAGAAGATGTATACCGAGGCCCGGCCATCAGAGCTCTCTGCAGGATCACCGATGGAACAATGTTGCAAGCCATT
GAAAGATACATGAAGCAGGCCATTGTGGATAAAGTTTCCAGTGTATCCAGTTCAGCACTGGTATCTTCCCTGCACATGATGAAGATAAGCTATGATGTGGTTAAG
CGCTGGATCAATGAAGCCCAAGAAGCTGCATCAAGTGATAATATTATGGTCCAGTACCATGCATTGGGAGTCCTGTATCACCTTAGAAAGAATGATCGACTTGCT
GTTTCCAAGATGTTGAATAAGTTTACTAAATCTGGTCTCAAGTCACAGTTTGCTTACTGCATGCTGATCCGAATTGCCAGTCGCTTACTAAAAGAAACTGAGGAT
GGCCATGAAAGTCCACTGTTTGATTTCATTGAGAGCTGCTTGCGAAATAAACATGAAATGGTTATTTATGAAGCTGCTTCAGCTATCATCCATCTTCCTAACTGC
ACTGCAAGAGAGTTGGCACCTGCTGTTTCAGTTCTTCAACTTTTCTGTAGTTCTCCTAAGCCAGCCTTGAGATATGCAGCTGTGAGGACCTTGAACAAGGTGGCA
ATGAAGCACCCCTCTGCTGTTACTGCCTGCAATCTGGACTTAGAAAACTTAATCACAGACTCAAACAGAAGCATTGCTACCTTAGCCATTACTACACTCCTCAAA
ACAGGAAGTGAGAGCAGTGTGGACCGGCTCATGAAGCAGATATCTTCTTTTGTGTCTGAAATCTCAGATGAGTTCAAGGTGGTGGTTGTACAGGCAATTAGTGCT
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>COPG2|26958|protein
MIKKFDKKDEESGSGSNPFQHLEKSAVLQEARIFNETPINPRRCLHILTKILYLLNQGEHFGTTEATEAFFAMTRLFQSNDQTLRRMCYLTIKEMATISEDVIIV
TSSLTKDMTGKEDVYRGPAIRALCRITDGTMLQAIERYMKQAIVDKVSSVSSSALVSSLHMMKISYDVVKRWINEAQEAASSDNIMVQYHALGVLYHLRKNDRLA
VSKMLNKFTKSGLKSQFAYCMLIRIASRLLKETEDGHESPLFDFIESCLRNKHEMVIYEAASAIIHLPNCTARELAPAVSVLQLFCSSPKPALRYAAVRTLNKVA
MKHPSAVTACNLDLENLITDSNRSIATLAITTLLKTGSESSVDRLMKQISSFVSEISDEFKVVVVQAISALCQKYPRKHSVMMTFLSNMLRDDGGFEYKRAIVDC
IISIVEENPESKEAGLAHLCEFIEDCEHTVLATKILHLLGKEGPRTPVPSKYIRFIFNRVVLENEAVRAAAVSALAKFGAQNESLLPSILVLLQRCMMDTDDEVR
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MIKKFDKKDEESGSGSNPFQHLEKSAVLQEARIFNETPINPRRCLHILTKILYLLNQGEHFGTTEATEAFFAMTRLFQSNDQTLRRMCYLTIKEMATISEDVIIV
TSSLTKDMTGKEDVYRGPAIRALCRITDGTMLQAIERYMKQAIVDKVSSVSSSALVSSLHMMKISYDVVKRWINEAQEAASSDNIMVQYHALGVLYHLRKNDRLA
VSKMLNKFTKSGLKSQFAYCMLIRIASRLLKETEDGHESPLFDFIESCLRNKHEMVIYEAASAIIHLPNCTARELAPAVSVLQLFCSSPKPALRYAAVRTLNKVA
MKHPSAVTACNLDLENLITDSNRSIATLAITTLLKTGSESSVDRLMKQISSFVSEISDEFKVVVVQAISALCQKYPRKHSVMMTFLSNMLRDDGGFEYKRAIVDC
IISIVEENPESKEAGLAHLCEFIEDCEHTVLATKILHLLGKEGPRTPVPSKYIRFIFNRVVLENEAVRAAAVSALAKFGAQNESLLPSILVLLQRCMMDTDDEVR
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 1 (3) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Schellenberg, 2006 | USA | microsatellite-based genomic screen | autism | 222 | - | 222 | - | - | - | - | ||
Lamb, 2005 | - | microsatellite-based genomic screen | autism | 207 | - | 207 | - | 420 | - | - | ||
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: 2
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Bonora, 2002_1 | IMGSAC | PCR-RFLP | 169 | 341 (-) | AD | - - |
- - | |||
Korvatska, 2011_1 | USA | RT-PCR, TaqMan SNP assays | 71 | - (-) | ASD | - - |
- - |
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
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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