AutismKB 2.0

Evidence Details for COG7


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Basic Information Top
Gene Symbol:COG7 ( CDG2E )
Gene Full Name: component of oligomeric golgi complex 7
Band: 16p12.2
Quick LinksEntrez ID:91949; OMIM: 606978; Uniprot ID:COG7_HUMAN; ENSEMBL ID: ENSG00000168434; HGNC ID: 18622
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COG7|91949|nucleotide
ATGGACTTCTCCAAGTTCCTGGCAGACGACTTCGACGTGAAGGAGTGGATCAATGCGGCCTTCAGGGCCGGCTCCAAGGAGGCGGCGTCCGGGAAGGCGGATGGC
CACGCAGCCACCCTGGTGATGAAGCTGCAGCTGTTCATCCAAGAGGTGAACCACGCCGTGGAGGAAACAAGTCACCAAGCTCTCCAGAACATGCCCAAAGTGCTC
CGTGATGTTGAAGCCCTAAAACAGGAGGCATCTTTCCTGAAAGAACAGATGATTCTTGTCAAGGAGGACATTAAAAAATTTGAACAGGACACATCTCAATCCATG
CAGGTGTTGGTAGAAATTGACCAAGTGAAGTCCAGAATGCAACTTGCTGCCGAATCTCTTCAGGAAGCAGATAAGTGGAGCACGTTGAGCGCCGATATTGAGGAG
ACATTTAAGACTCAGGACATAGCTGTGATTTCTGCCAAGCTAACAGGTATGCAGAACAGCTTAATGATGCTTGTTGATACACCAGACTACTCAGAAAAGTGTGTG
CACTTGGAGGCACTGAAGAACAGGCTGGAGGCCCTAGCCAGTCCACAGATTGTAGCGGCATTCACCTCTCAGGCTGTAGATCAGTCCAAAGTGTTTGTGAAGGTG
TTTACTGAAATTGACCGGATGCCCCAGCTCCTGGCCTACTACTACAAGTGTCACAAGGTGCAGCTTTTAGCAGCCTGGCAAGAGCTGTGTCAAAGTGACCTATCC
CTGGACCGGCAGCTTACCGGACTCTATGATGCCTTGCTTGGTGCTTGGCACACACAAATCCAGTGGGCTACACAGGTTTTCCAGAAGCCCCACGAGGTGGTAATG
GTGCTGCTGATTCAGACCCTGGGGGCCCTCATGCCCTCGCTGCCCTCCTGCCTCAGCAACGGCGTGGAGAGGGCAGGGCCCGAGCAGGAGCTCACCAGGCTGCTG
GAGTTCTACGACGCCACCGCCCACTTCGCCAAGGGCTTGGAGATGGCACTGCTCCCCCACCTACATGAACACAATCTGGTAAAAGTCACGGAGCTGGTGGATGCT
GTGTATGATCCATACAAACCCTACCAGCTGAAGTATGGCGACATGGAAGAGAGCAACCTCCTCATCCAGATGAGTGCTGTGCCTCTGGAGCATGGGGAAGTGATT
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>COG7|91949|protein
MDFSKFLADDFDVKEWINAAFRAGSKEAASGKADGHAATLVMKLQLFIQEVNHAVEETSHQALQNMPKVLRDVEALKQEASFLKEQMILVKEDIKKFEQDTSQSM
QVLVEIDQVKSRMQLAAESLQEADKWSTLSADIEETFKTQDIAVISAKLTGMQNSLMMLVDTPDYSEKCVHLEALKNRLEALASPQIVAAFTSQAVDQSKVFVKV
FTEIDRMPQLLAYYYKCHKVQLLAAWQELCQSDLSLDRQLTGLYDALLGAWHTQIQWATQVFQKPHEVVMVLLIQTLGALMPSLPSCLSNGVERAGPEQELTRLL
EFYDATAHFAKGLEMALLPHLHEHNLVKVTELVDAVYDPYKPYQLKYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGTCG
LLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPRSLAGFQESILTDKKNSA
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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 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Okamoto N, 2014 Japanese ---autism - - - - 2 - 2
Linkage Studies Top