AutismKB 2.0

Evidence Details for FAM83G


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Basic Information Top
Gene Symbol:FAM83G ( FLJ41564 )
Gene Full Name: family with sequence similarity 83, member G
Band: 17p11.2
Quick LinksEntrez ID:644815; OMIM: NA; Uniprot ID:FA83G_HUMAN; ENSEMBL ID: ENSG00000188522; HGNC ID: 32554
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM83G|644815|nucleotide
ATGGCCTTCTCTCAGGTGCAGTGTCTGGACGACAACCATGTGAACTGGCGCTCCAGCGAGTCCAAGCCTGAGTTCTTCTACAGCGAGGAGCAGCGGCTGGCGCTG
GAGGCCCTGGTGGCCCGCGGCCGGGACGCCTTCTACGAGGTGCTCAAGCGGGAGAACATCCGAGACTTCCTCTCGGAGCTGGAGCTCAAGCGCATCCTGGAGACC
ATCGAGGTGTACGACCCGGGCTCTGAGGACCCTCGGGGCACGGGCCCCTCTCAGGGGCCCGAGGACAATGGGGTCGGCGACGGCGAGGAAGCCAGCGGGGCGGAT
GGGGTCCCCATCGAGGCCGAGCCGCTGCCCTCCCTGGAGTACTGGCCCCAGAAGTCGGACCGCTCCATCCCGCAGCTGGACCTGGGCTGGCCCGACACCATCGCC
TACCGCGGCGTGACCCGGGCTAGCGTCTACATGCAGCCCCCCATAGACGGGCAGGCCCACATCAAAGAGGTGGTGCGGAAGATGATCAGCCAGGCACAGAAGGTG
ATAGCTGTGGTCATGGACATGTTCACCGACGTGGACATCTTCAAGGACCTGCTGGACGCCGGCTTCAAGAGGAAAGTGGCCGTGTACATCATCGTGGATGAGAGT
AACGTCAAGTACTTCCTGCACATGTGTGAGCGGGCCTGCATGCACCTGGGGCACCTCAAGAATCTCAGAGTGCGGAGCAGCGGGGGAACTGAGTTCTTCACGCGG
TCGGCAACCAAGTTCAAGGGTGCCCTGGCCCAGAAGTTCATGTTTGTGGATGGAGACCGGGCTGTGTGCGGCTCCTACAGCTTCACGTGGTCGGCCGCGCGGACG
GACCGGAATGTGATCTCTGTGCTGTCTGGCCAGGTGGTGGAGATGTTTGACCGGCAGTTCCAGGAGCTGTACCTCATGTCACACAGTGTGAGCCTCAAGGGCATC
CCTATGGAGAAGGAACCGGAGCCGGAGCCTATTGTGCTGCCCTCTGTGGTCCCCCTGGTGCCCGCGGGCACTGTGGCCAAGAAGCTCGTCAACCCCAAGTACGCA
CTTGTCAAGGCCAAGAGCGTCGACGAGATTGCCAAGATCTCCTCTGAGAAGCAGGAGGCCAAGAAGCCCCTGGGGCTGAAAGGCCCAGCGCTGGCTGAGCATCCA
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>FAM83G|644815|protein
MAFSQVQCLDDNHVNWRSSESKPEFFYSEEQRLALEALVARGRDAFYEVLKRENIRDFLSELELKRILETIEVYDPGSEDPRGTGPSQGPEDNGVGDGEEASGAD
GVPIEAEPLPSLEYWPQKSDRSIPQLDLGWPDTIAYRGVTRASVYMQPPIDGQAHIKEVVRKMISQAQKVIAVVMDMFTDVDIFKDLLDAGFKRKVAVYIIVDES
NVKYFLHMCERACMHLGHLKNLRVRSSGGTEFFTRSATKFKGALAQKFMFVDGDRAVCGSYSFTWSAARTDRNVISVLSGQVVEMFDRQFQELYLMSHSVSLKGI
PMEKEPEPEPIVLPSVVPLVPAGTVAKKLVNPKYALVKAKSVDEIAKISSEKQEAKKPLGLKGPALAEHPGELPELLPPIHPGLLHLERANMFEYLPTWVEPDPE
PGSDILGYINIIDPNIWNPQPSQMNRIKIRDTSQASAQHQLWKQSQDSRPRPEPCPPPEPSAPQDGVPAENGLPQGDPEPLPPVPKPRTVPVADVLARDSSDIGW
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Potocki, 2007 - aCGHautism - - - - 1 - 1
Nakamine, 2008 Costa Rica SNP microarrayautsim - - - - 1 - 1
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018