AutismKB 2.0

Evidence Details for GOLGA2


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Basic Information Top
Gene Symbol:GOLGA2 ( GM130,MGC20672 )
Gene Full Name: golgin A2
Band: 9q34.11
Quick LinksEntrez ID:2801; OMIM: 602580; Uniprot ID:GOGA2_HUMAN; ENSEMBL ID: ENSG00000167110; HGNC ID: 4425
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GOLGA2|2801|nucleotide
ATGTGGCCCCAACCCCGCCTCCCTCCCCGCCCCGCGATGTCGGAAGAAACCCGACAGAGCAAATTGGCCGCAGCGAAGAAAAAGTTGAGAGAATATCAGCAGAGG
AATAGCCCTGGTGTTCCTACAGGAGCGAAAAAGAAGAAGAAAATAAAAAATGGCAGTAACCCTGAGACAACCACTTCTGGTGGTTGCCACTCACCTGAGGATACA
CCCAAGGACAATGCTGCTACTCTACAACCATCTGATGACACCGTGTTACCTGGCGGTGTCCCTTCCCCTGGTGCCAGTCTCACTAGCATGGCGGCATCTCAGAAT
CATGATGCTGACAATGTCCCTAATCTCATGGATGAAACCAAGACTTTCTCATCAACCGAGAGCCTGCGACAACTCTCCCAACAGCTCAATGGTCTTGTTTGTGAG
TCTGCGACATGTGTCAATGGGGAGGGCCCTGCATCGTCTGCTAACCTGAAGGATCTGGAGAGCCGGTACCAACAGCTAGCGGTAGCCCTGGACTCCAGCTATGTA
ACAAACAAACAACTCAATATCACGATAGAGAAATTGAAACAACAGAACCAAGAAATTACGGATCAGTTGGAAGAAGAAAAGAAAGAATGCCACCAAAAGCAGGGA
GCCCTAAGGGAGCAGTTACAGGTTCACATTCAGACCATAGGGATCCTCGTATCAGAGAAAGCTGAGTTACAGACAGCCCTGGCTCACACTCAGCATGCTGCCAGG
CAGAAAGAAGGAGAGTCTGAAGATCTGGCCAGCCGCCTGCAGTATTCCCGGCGGCGTGTGGGAGAGTTGGAGCGGGCTCTCTCTGCTGTCTCCACGCAGCAGAAG
AAGGCAGACAGGTACAACAAGGAGTTAACCAAAGAGAGAGACGCCCTCAGGCTGGAGTTATACAAGAACACCCAAAGCAATGAGGACCTGAAGCAAGAGAAATCA
GAATTGGAAGAGAAGCTTCGGGTCCTAGTGACTGAGAAGGCTGGCATGCAGCTTAACTTGGAAGAATTGCAAAAGAAGTTAGAGATGACGGAACTCCTGCTTCAA
CAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTAATGGAGTCG
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>GOLGA2|2801|protein
MWPQPRLPPRPAMSEETRQSKLAAAKKKLREYQQRNSPGVPTGAKKKKKIKNGSNPETTTSGGCHSPEDTPKDNAATLQPSDDTVLPGGVPSPGASLTSMAASQN
HDADNVPNLMDETKTFSSTESLRQLSQQLNGLVCESATCVNGEGPASSANLKDLESRYQQLAVALDSSYVTNKQLNITIEKLKQQNQEITDQLEEEKKECHQKQG
ALREQLQVHIQTIGILVSEKAELQTALAHTQHAARQKEGESEDLASRLQYSRRRVGELERALSAVSTQQKKADRYNKELTKERDALRLELYKNTQSNEDLKQEKS
ELEEKLRVLVTEKAGMQLNLEELQKKLEMTELLLQQFSSRCEAPDANQQLQQAMEERAQLEAHLGQVMESVRQLQMERDKYAENLKGESAMWRQRMQQMSEQVHT
LREEKECSMSRVQELETSLAELRNQMAEPPPPEPPAGPSEVEQQLQAEAEHLRKELEGLAGQLQAQVQDNEGLSRLNREQEERLLELERAAELWGEQAEARRQIL
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top