AutismKB 2.0

Evidence Details for COG1


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Basic Information Top
Gene Symbol:COG1 ( CDG2G,DKFZp762L1710,KIAA1381,LDLB )
Gene Full Name: component of oligomeric golgi complex 1
Band: 17q25.1
Quick LinksEntrez ID:9382; OMIM: 606973; Uniprot ID:COG1_HUMAN; ENSEMBL ID: ENSG00000166685; HGNC ID: 6545
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COG1|9382|nucleotide
ATGGCCACCGCGGCAACCTCACCCGCGCTGAAGCGGCTGGATCTGCGCGACCCTGCGGCTCTTTTCGAGACGCATGGAGCGGAGGAGATCCGCGGGCTGGAGCGC
CAGGTTCGGGCCGAGATCGAGCACAAGAAGGAGGAGCTGCGGCAGATGGTGGGCGAACGGTACCGCGACCTGATCGAGGCGGCCGACACCATCGGCCAGATGCGC
CGCTGCGCCGTGGGGCTAGTGGACGCCGTGAAGGCCACCGACCAGTACTGCGCCCGCCTCCGCCAGGCCGGCTCGGCCGCGCCCCGGCCACCGCGGGCCCAGCAG
CCACAGCAGCCATCCCAGGAGAAGTTCTACAGCATGGCTGCCCAGATCAAGCTACTCTTAGAAATTCCGGAGAAGATCTGGAGCTCGATGGAAGCCTCTCAGTGT
CTCCACGCCACACAGCTCTACCTGCTCTGCTGCCACCTCCACAGCCTGCTCCAGCTGGATTCTTCTAGTTCCCGATACAGTCCCGTCCTCTCCCGGTTTCCTATA
CTCATCCGGCAGGTGGCAGCCGCCAGCCACTTCCGGTCAACTATTCTGCATGAAAGCAAGATGTTGCTCAAATGCCAAGGTGTGTCTGACCAAGCTGTGGCCGAG
GCCCTGTGCTCTATAATGCTCTTAGAAGAGAGTTCTCCTCGCCAAGCCCTCACAGACTTCCTGCTGGCCAGAAAGGCAACTATTCAGAAACTTCTCAACCAGCCA
CACCATGGTGCTGGTATCAAGGCTCAGATTTGCTCATTAGTGGAGTTGCTGGCCACCACTCTGAAGCAAGCTCATGCCCTTTTCTACACTTTGCCAGAAGGACTG
CTGCCAGATCCAGCCCTGCCATGTGGCTTGCTCTTCTCTACTCTGGAGACCATCACAGGCCAGCATCCTGCCGGAAAGGGCACTGGTGTCCTGCAGGAAGAGATG
AAACTCTGCAGCTGGTTTAAACACCTGCCAGCATCCATCGTCGAGTTCCAGCCAACACTCCGAACCCTTGCACATCCCATCAGTCAGGAATACCTGAAAGACACG
CTGCAGAAATGGATCCACATGTGTAATGAAGACATTAAAAATGGGATCACCAACCTGCTCATGTACGTGAAGAGCATGAAGGGTCTCGCGGGAATCCGGGACGCC
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>COG1|9382|protein
MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLIEAADTIGQMRRCAVGLVDAVKATDQYCARLRQAGSAAPRPPRAQQ
PQQPSQEKFYSMAAQIKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLDSSSSRYSPVLSRFPILIRQVAAASHFRSTILHESKMLLKCQGVSDQAVAE
ALCSIMLLEESSPRQALTDFLLARKATIQKLLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITGQHPAGKGTGVLQEEM
KLCSWFKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNEDIKNGITNLLMYVKSMKGLAGIRDAMWELLTNESTNHSWDVLCRRLLEKPLLFWEDMMQQ
LFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESPNDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKL
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top