AutismKB 2.0

Evidence Details for GYG2


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Basic Information Top
Gene Symbol:GYG2 ( GN-2,GN2 )
Gene Full Name: glycogenin 2
Band: Xp22.33
Quick LinksEntrez ID:8908; OMIM: 300198; Uniprot ID:GLYG2_HUMAN; ENSEMBL ID: ENSG00000056998; HGNC ID: 4700
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GYG2|8908|nucleotide
ATGTCGGTGACTGATCAGGCTTTTGTCACACTAGCCACCAATGACATCTACTGCCAGGGCGCCCTGGTCCTGGGGCAGTCACTGAGGAGACACAGGCTGACGAGG
AAGCTGGTGGTGTTGATCACTCCTCAGGTGTCCAGCCTGCTCAGGGTCATCCTCTCGAAGGTGTTCGATGAAGTCATTGAAGTGAATCTAATCGATAGTGCCGAC
TACATCCACCTGGCCTTTCTGAAGAGACCTGAGCTCGGGCTCACCCTCACCAAGCTTCACTGTTGGACTCTCACTCACTACAGCAAGTGTGTCTTCCTGGATGCA
GACACTCTGGTGCTGTCCAATGTCGATGAGCTGTTTGACAGGGGAGAGTTTTCTGCGGCCCCGGACCCCGGATGGCCGGATTGCTTCAATAGCGGGGTGTTTGTC
TTCCAGCCTTCTCTCCACACGCATAAACTCCTGCTACAGCACGCCATGGAACACGGCAGCTTTGACGGGGCAGACCAAGGCTTACTGAATAGTTTCTTCAGGAAC
TGGTCGACCACAGACATCCACAAGCACCTGCCGTTCATCTATAACTTGAGTAGTAACACGATGTACACTTACAGCCCTGCCTTCAAGCAATTCGGTTCCAGTGCA
AAGGTCGTCCACTTTTTGGGGTCCATGAAACCTTGGAACTACAAGTACAATCCACAGAGTGGCTCGGTGTTGGAGCAAGGCTCAGCGTCCAGCAGCCAGCACCAG
GCGGCATTCCTTCATCTCTGGTGGACGGTCTACCAGAACAACGTGCTGCCCCTTTATAAAAGCGTCCAAGCGGGGGAAGCACGCGCGTCTCCTGGTCACACACTT
TGCCACAGTGATGTGGGGGGGCCGTGTGCGGATTCAGCCTCTGGTGTTGGAGAGCCGTGTGAAAATTCAACACCCAGTGCGGGCGTGCCGTGTGCAAATTCACCA
CTGGGTTCTAACCAGCCTGCTCAGGGCCTTCCGGAGCCGACCCAGATAGTGGATGAGACCCTGTCCCTACCTGAAGGACGCCGTTCAGAAGATATGATAGCTTGT
CCTGAAACTGAGACTCCTGCCGTGATAACGTGTGACCCACTGTCCCAGCCTTCCCCTCAGCCTGCAGACTTCACAGAGACTGAAACCATCTTGCAGCCAGCAAAT
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>GYG2|8908|protein
MSVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVFLDA
DTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSA
KVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSP
LGSNQPAQGLPEPTQIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILQPANKVESVSSEETFEPSQELPAEALRDPSLQDALEVDL
AVSVSQISIEEKVKELSPEEERRKWEEGRIDYMGKDAFARIQEKLDRFLQ
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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 (6) 0 (0) 0 (0) 0 (0) 0 (0) 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
Thomas, 1999 - FISHautism - - - - 3 - 3
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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