AutismKB 2.0

Evidence Details for GGN


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Basic Information Top
Gene Symbol:GGN ( FLJ35713,MGC33369 )
Gene Full Name: gametogenetin
Band: 19q13.2
Quick LinksEntrez ID:199720; OMIM: 609966; Uniprot ID:GGN_HUMAN; ENSEMBL ID: ENSG00000179168; HGNC ID: 18869
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GGN|199720|nucleotide
ATGGGGAACTTGCAGTCGGAGCCATCCGCGGGCGGGGGCTCCCGAAAAGTGCAGCCCTCGGACCGCGCCCCCGACTCCCGCCGGACGTCCCTGGTGGAGCCCGAG
ATGACCTCCCAGGCCATGCGCCTGACTCGTGGGCTGGGTGTCTGGTTCCCTGGCAGCGCCACACCCCCGGGACTCATGGTACCCCGGGAGCCCCAGGCCTCACCC
TCGACCCTGCCCCTCACCTTAGAACGGCCCTCTCCAGTGATGCCCCCTCCTGAAGAGGCGGCCGCGGTCTCTGCACCACCCCCGGCCCCCGCGGGGACTCTGCTG
CCCGGCCCGTCTAAATGGCAAAAGCCCGCGGGCACTCCAGTTCCCCGGATCCGCCGCCTGCTGGAGGCGAGCCATCGCGGCCAGGGCGACCCTCCGAGCCTCCGC
CCGCTGAAGCCGCCGCCGCCGCCCCGGCAACTATCCGTGAAGGACACTGTCCCGAGGGCCCCATCCCAATTTCCGCCGCCCCTGGAGACTTGGAAGCCGCCACCA
CCATTACCTTCTGAACGGCAGCCGGCGGACCGCAGAATCACTCCTGCTCTGGCCACACCCGCCTCACCCCCGACAGAAAGCCAGGCTGGGCCCCGCAACCAGGGC
CAGACGGCCGGCAGGGCTCGCGGAGGGGCGCCTCCCCATGCGGGCGAAGGCGAAATGGCCCAGCCTGCGGATTCCGAGTCCGGTCTGAGCCTGCTGTGTAAAATC
ACCTTCAAGTCGAGGCCCTCTTTGGCCCCTCCGGCAGCCTCGAGTTCCTTAGCAGCCAAAGCTTCGCTGGGGGGCGGCGGAGGCGGCGGCCTCTTTGCTGCCTCA
GGTGCCATCTCTTACGCCGAGGTCCTGAAGCAAGGGCCCCTGCCTCCTGGAGCCGCTCGCCCCTTGGGAGAGGTTTCTCGAGGGGCACAGGAAGCCGAGGGAGGT
GATGGAGACGGCGAAGGGTGCTCTGGTCCTCCCTCGGCGCCTGCGTCCCAAGCCCGGGCCCTACCGCCGCCACCCTACACCACCTTCCCAGGCTCGAAGCCCAAA
TTCGACTGGGTTAGCGCTCCCGACGGCCCTGAACGCCACTTCCGCTTCAACGGGGCTGGCGGAGGCATCGGGGCGCCGCGACGGCGTGCGGCCGCACTCTCTGGG
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>GGN|199720|protein
MGNLQSEPSAGGGSRKVQPSDRAPDSRRTSLVEPEMTSQAMRLTRGLGVWFPGSATPPGLMVPREPQASPSTLPLTLERPSPVMPPPEEAAAVSAPPPAPAGTLL
PGPSKWQKPAGTPVPRIRRLLEASHRGQGDPPSLRPLKPPPPPRQLSVKDTVPRAPSQFPPPLETWKPPPPLPSERQPADRRITPALATPASPPTESQAGPRNQG
QTAGRARGGAPPHAGEGEMAQPADSESGLSLLCKITFKSRPSLAPPAASSSLAAKASLGGGGGGGLFAASGAISYAEVLKQGPLPPGAARPLGEVSRGAQEAEGG
DGDGEGCSGPPSAPASQARALPPPPYTTFPGSKPKFDWVSAPDGPERHFRFNGAGGGIGAPRRRAAALSGPWGSPPPPPEQIHSAPGPRRPAPALLAPPTFIFPA
PTNGEPMRPGPPGLQELPPLPPPTPPPTLQPPALQPTPLPVAPPLTPGLGHKESALAPTAAPALPPALAADQAPAPSPAPAPTVAEPSPPVSAPAPAAAPIKTRT
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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