AutismKB 2.0

Evidence Details for COG3


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Basic Information Top
Gene Symbol:COG3 ( SEC34 )
Gene Full Name: component of oligomeric golgi complex 3
Band: 13q14.13
Quick LinksEntrez ID:83548; OMIM: 606975; Uniprot ID:COG3_HUMAN; ENSEMBL ID: ENSG00000136152; HGNC ID: 18619
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COG3|83548|nucleotide
ATGGCGGAGGCGGCGCTGTTGCTGCTGCCTGAGGCGGCGGCGGAGCGGGACGCTAGGGAAAAGCTGGCTCTCTGGGATCGGAGACCGGACACGACGGCGCCGCTG
ACCGACAGGCAGACGGACTCGGTATTGGAGCTGAAGGCGGCGGCAGAGAACTTGCCGGTGCCAGCTGAGCTTCCAATTGAAGACTTGTGCAGTTTAACATCCCAG
TCACTGCCCATTGAACTGACTTCAGTAGTGCCTGAATCTACAGAAGACATTCTCTTGAAGGGCTTCACTTCCTTAGGAATGGAAGAAGAAAGAATTGAAACCGCA
CAGCAGTTTTTCTCATGGTTTGCAAAGCTGCAAACTCAGATGGATCAAGATGAAGGAACTAAATATAGACAGATGAGGGATTACTTGTCTGGGTTTCAGGAGCAG
TGTGATGCTATATTGAATGATGTAAACAGTGCTCTTCAGCATCTGGAGTCTTTGCAGAAACAGTATCTTTTTGTGTCCAATAAGACAGGAACCCTACATGAAGCC
TGTGAACAGCTCCTAAAAGAACAGTCGGAACTTGTTGATCTGGCTGAAAACATTCAACAAAAGCTTTCCTATTTTAACGAATTGGAAACTATTAACACAAAATTG
AATTCCCCTACATTGTCGGTGAATAGTGACGGATTTATACCTATGCTGGCCAAGTTAGATGATTGTATAACATATATCTCATCTCATCCTAATTTTAAAGATTAT
CCCATATATTTGCTGAAGTTTAAACAGTGTCTTTCTAAAGCTTTGCACCTCATGAAGACATATACTGTGAACACACTACAGACCCTCACAAGTCAGTTACTGAAA
AGGGATCCTTCATCTGTACCTAATGCAGACAATGCCTTCACATTATTTTATGTGAAATTTCGAGCTGCTGCCCCCAAAGTCAGAACTCTTATTGAACAAATAGAA
CTGCGGTCTGAAAAAATACCTGAATACCAACAACTGCTAAATGATATCCACCAGTGTTACCTTGATCAGCGGGAGCTCCTTTTGGGCCCTAGTATTGCTTGCACT
GTTGCAGAGTTAACCAGCCAAAATAATAGAGATCACTGTGCCTTGGTTCGTAGTGGCTGTGCCTTCATGGTTCATGTCTGCCAGGATGAACACCAACTTTACAAT
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>COG3|83548|protein
MAEAALLLLPEAAAERDAREKLALWDRRPDTTAPLTDRQTDSVLELKAAAENLPVPAELPIEDLCSLTSQSLPIELTSVVPESTEDILLKGFTSLGMEEERIETA
QQFFSWFAKLQTQMDQDEGTKYRQMRDYLSGFQEQCDAILNDVNSALQHLESLQKQYLFVSNKTGTLHEACEQLLKEQSELVDLAENIQQKLSYFNELETINTKL
NSPTLSVNSDGFIPMLAKLDDCITYISSHPNFKDYPIYLLKFKQCLSKALHLMKTYTVNTLQTLTSQLLKRDPSSVPNADNAFTLFYVKFRAAAPKVRTLIEQIE
LRSEKIPEYQQLLNDIHQCYLDQRELLLGPSIACTVAELTSQNNRDHCALVRSGCAFMVHVCQDEHQLYNEFFTKPTSKLDELLEKLCVSLYDVFRPLIIHVIHL
ETLSELCGILKNEVLEDHVQNNAEQLGAFAAGVKQMLEDVQERLVYRTHIYIQTDITGYKPAPGDLAYPDKLVMMEQIAQSLKDEQKKVPSEASFSDVHLEEGES
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Evidence summary Top

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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top