AutismKB 2.0

Evidence Details for OSGIN1


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Basic Information Top
Gene Symbol:OSGIN1 ( BDGI,OKL38 )
Gene Full Name: oxidative stress induced growth inhibitor 1
Band: 16q23.3
Quick LinksEntrez ID:29948; OMIM: 607975; Uniprot ID:OSGI1_HUMAN; ENSEMBL ID: ENSG00000140961; HGNC ID: 30093
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OSGIN1|29948|nucleotide
ATGGGGAAGTGGAGACCGAGAGGCTGCTGCCGGGGAAATATGCAGTGCAGACAAGAGGTTCCTGCTACTCTCACCTCATCAGAGTTGTTTTCTACCAGGAACCAG
CCCCAGCCCCAGCCCCAGCCCCTGCTGGCAGATGCTCCGGTACCCTGGGCTGTGGCTTCCAGGATGTGCCTGACTCCAGGGCAGGGCTGTGGCCACCAGGGCCAG
GACGAGGGTCCGCTGCCAGCCCCAAGCCCCCCACCAGCCATGAGCTCCTCCAGAAAGGACCACCTCGGCGCCAGCAGCTCAGAGCCCCTCCCGGTCATCATTGTG
GGTAACGGCCCCTCTGGTATCTGCCTGTCCTACCTGCTCTCCGGCTACACACCCTACACGAAGCCAGATGCCATCCACCCACACCCCCTGCTGCAGAGGAAGCTC
ACCGAGGCCCCGGGGGTCTCCATCCTGGACCAGGACCTGGACTACCTGTCCGAAGGCCTCGAAGGCCGATCCCAAAGCCCCGTGGCCCTGCTCTTTGATGCCCTT
CTACGCCCAGACACAGACTTTGGGGGAAACATGAAGTCGGTCCTCACCTGGAAGCACCGGAAGGAGCACGCCATCCCCCACGTGGTTCTGGGCCGGAACCTCCCC
GGGGGAGCCTGGCACTCCATCGAAGGCTCCATGGTGATCCTGAGCCAAGGCCAGTGGATGGGGCTCCCGGACCTGGAGGTCAAGGACTGGATGCAGAAGAAGCGA
AGAGGTCTTCGCAACAGCCGGGCCACTGCCGGGGACATCGCCCACTACTACAGGGACTACGTGGTCAAGAAGGGTCTGGGGCATAACTTTGTGTCCGGTGCTGTA
GTCACAGCCGTGGAGTGGGGGACCCCCGATCCCAGCAGCTGTGGGGCCCAGGACTCCAGCCCCCTCTTCCAGGTGAGCGGCTTCCTGACCAGGAACCAGGCCCAG
CAGCCCTTCTCGCTGTGGGCCCGCAACGTGGTCCTCGCCACAGGCACGTTCGACAGCCCGGCCCGGCTGGGCATCCCCGGGGAGGCCCTGCCCTTCATCCACCAT
GAGCTGTCTGCCCTGGAGGCCGCCACAAGGGTGGGTGCGGTGACCCCGGCCTCAGACCCTGTCCTCATCATTGGCGCGGGGCTGTCAGCGGCCGACGCGGTCCTC
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>OSGIN1|29948|protein
MGKWRPRGCCRGNMQCRQEVPATLTSSELFSTRNQPQPQPQPLLADAPVPWAVASRMCLTPGQGCGHQGQDEGPLPAPSPPPAMSSSRKDHLGASSSEPLPVIIV
GNGPSGICLSYLLSGYTPYTKPDAIHPHPLLQRKLTEAPGVSILDQDLDYLSEGLEGRSQSPVALLFDALLRPDTDFGGNMKSVLTWKHRKEHAIPHVVLGRNLP
GGAWHSIEGSMVILSQGQWMGLPDLEVKDWMQKKRRGLRNSRATAGDIAHYYRDYVVKKGLGHNFVSGAVVTAVEWGTPDPSSCGAQDSSPLFQVSGFLTRNQAQ
QPFSLWARNVVLATGTFDSPARLGIPGEALPFIHHELSALEAATRVGAVTPASDPVLIIGAGLSAADAVLYARHYNIPVIHAFRRAVDDPGLVFNQLPKMLYPEY
HKVHQMMREQSILSPSPYEGYRSLPRHQLLCFKEDCQAVFQDLEGVEKVFGVSLVLVLIGSHPDLSFLPGAGADFAVDPDQPLSAKRNPIDVDPFTYQSTRQEGL
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 8 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
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