AutismKB 2.0

Evidence Details for GOLGA3


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Basic Information Top
Gene Symbol:GOLGA3 ( GCP170,MEA-2 )
Gene Full Name: golgin A3
Band: 12q24.33
Quick LinksEntrez ID:2802; OMIM: 602581; Uniprot ID:GOGA3_HUMAN; ENSEMBL ID: ENSG00000090615; HGNC ID: 4426
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GOLGA3|2802|nucleotide
ATGGACGGCGCGTCGGCCGAGCAAGATGGCCTCCAGGAGGACAGATCCCACAGTGGCCCCTCGTCTCTCCCCGAGGCCCCACTGAAGCCCCCGGGCCCACTGGTG
CCACCTGACCAGCAGGACAAAGTCCAGTGTGCCGAGGTAAACAGAGCATCCACGGAAGGGGAAAGCCCGGATGGACCTGGCCAGGGAGGCCTCTGTCAGAACGGG
CCAACGCCACCCTTCCCAGACCCTCCGTCGTCTCTCGATCCCACCACAAGCCCAGTGGGCCCTGATGCCTCTCCAGGTGTGGCTGGTTTCCATGACAACCTAAGG
AAGTCTCAGGGAACTAGTGCTGAGGGCAGTGTTAGAAAAGAAGCTTTGCAGTCTCTCAGACTCAGTCTTCCTATGCAAGAAACGCAACTGTGCTCTACAGATTCT
CCCCTGCCCCTGGAGAAGGAGGAGCAGGTCCGACTTCAGGCTCGGAAGTGGCTGGAAGAGCAGCTCAAACAGTACAGGGTGAAGCGCCAGCAGGAGAGGTCCAGT
CAACCTGCAACCAAAACGAGACTTTTTAGCACGCTTGATCCTGAGCTCATGTTAAACCCAGAAAACTTACCAAGGGCCAGTACCCTGGCTATGACAAAAGAATAT
TCCTTCCTGCGCACCAGTGTCCCTCGGGGGCCTAAGGTGGGCAGCCTGGGGCTTCCGGCACATCCTAGGGAGAAAAAAACTTCCAAATCAAGCAAAATCCGGTCT
CTGGCCGATTACAGAACTGAAGATTCAAATGCGGGGAATTCTGGGGGAAATGTCCCGGCTCCCGATTCTACCAAGGGTTCCCTGAAGCAGAACAGAAGCAGTGCG
GCGTCCGTTGTGTCTGAGATCAGCCTGTCCCCCGACACTGACGACCGTCTGGAGAACACCTCCCTGGCTGGAGACAGCGTGTCTGAGGTGGATGGAAATGACAGC
GACAGCTCATCGTACAGCAGCGCCTCCACCCGAGGGACCTATGGCATTCTGTCGAAGACAGTGGGCACGCAGGACACCCCCTATATGGTCAACGGCCAGGAGATT
CCTGCGGATACCCTGGGCCAGTTCCCCTCCATTAAGGACGTCCTCCAGGCCGCAGCCGCTGAGCACCAAGACCAGGGGCAGGAGGTCAACGGGGAGGTGCGGAGT
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>GOLGA3|2802|protein
MDGASAEQDGLQEDRSHSGPSSLPEAPLKPPGPLVPPDQQDKVQCAEVNRASTEGESPDGPGQGGLCQNGPTPPFPDPPSSLDPTTSPVGPDASPGVAGFHDNLR
KSQGTSAEGSVRKEALQSLRLSLPMQETQLCSTDSPLPLEKEEQVRLQARKWLEEQLKQYRVKRQQERSSQPATKTRLFSTLDPELMLNPENLPRASTLAMTKEY
SFLRTSVPRGPKVGSLGLPAHPREKKTSKSSKIRSLADYRTEDSNAGNSGGNVPAPDSTKGSLKQNRSSAASVVSEISLSPDTDDRLENTSLAGDSVSEVDGNDS
DSSSYSSASTRGTYGILSKTVGTQDTPYMVNGQEIPADTLGQFPSIKDVLQAAAAEHQDQGQEVNGEVRSRRDSICSSVSLESSAAETQEEMLQVLKEKMRLEGQ
LEALSLEASQALKEKAELQAQLAALSTKLQAQVECSHSSQQRQDSLSSEVDTLKQSCWDLERAMTDLQNMLEAKNASLASSNNDLQVAEEQYQRLMAKVEDMQRS
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top