AutismKB 2.0

Evidence Details for TRIO


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Basic Information Top
Gene Symbol:TRIO ( ARHGEF23,FLJ42780,tgat )
Gene Full Name: triple functional domain (PTPRF interacting)
Band: 5p15.2
Quick LinksEntrez ID:7204; OMIM: 601893; Uniprot ID:TRIO_HUMAN; ENSEMBL ID: ENSG00000038382; HGNC ID: 12303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIO|7204|nucleotide
ATGAGCGGCAGCAGCGGCGGAGCCGCCGCCCCCGCCGCGTCCTCCGGCCCCGCCGCGGCGGCCAGCGCGGCTGGCTCGGGCTGCGGGGGCGGTGCCGGCGAGGGG
GCAGAGGAGGCGGCCAAGGACCTGGCCGACATCGCGGCCTTCTTCCGATCCGGGTTTCGAAAAAACGATGAAATGAAAGCTATGGATGTTTTACCAATTTTGAAG
GAAAAAGTTGCATACCTTTCAGGTGGGAGAGATAAACGTGGAGGTCCCATTTTAACGTTTCCGGCCCGCAGCAATCATGACAGAATACGACAGGAGGATCTCAGG
AGACTCATTTCCTATCTAGCCTGTATTCCCAGCGAGGAGGTCTGCAAGCGTGGCTTCACGGTGATCGTGGACATGCGTGGGTCCAAGTGGGACTCCATCAAGCCC
CTTCTGAAGATCCTGCAGGAGTCCTTCCCCTGCTGCATCCATGTGGCCCTGATCATCAAGCCAGACAACTTCTGGCAGAAACAGAGGACTAATTTTGGCAGTTCT
AAATTTGAATTTGAGACAAATATGGTCTCTTTAGAAGGCCTTACCAAAGTAGTTGATCCTTCTCAGCTAACTCCTGAGTTTGATGGCTGCCTGGAATACAACCAC
GAAGAATGGATTGAAATCAGAGTTGCTTTTGAAGACTACATTAGCAATGCCACCCACATGCTGTCTCGGCTGGAGGAACTTCAGGACATCCTAGCTAAGAAGGAG
CTGCCTCAGGATTTAGAGGGGGCTCGGAATATGATCGAGGAACATTCTCAGCTGAAGAAGAAGGTGATTAAGGCCCCCATCGAGGACCTGGATTTGGAGGGACAG
AAGCTGCTTCAGAGGATACAGAGCAGTGAAAGCTTTCCCAAAAAGAACTCAGGCTCAGGCAATGCGGACCTGCAGAACCTCTTGCCCAAGGTGTCCACCATGCTG
GACCGGCTGCACTCGACACGGCAGCATCTGCACCAGATGTGGCATGTGAGGAAGCTGAAGCTGGACCAGTGCTTCCAGCTGAGGCTGTTTGAACAGGATGCTGAG
AAGATGTTTGACTGGATCACACACAACAAAGGCCTGTTTCTAAACAGCTACACAGAGATTGGGACCAGCCACCCTCATGCCATGGAGCTTCAGACGCAGCACAAT
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>TRIO|7204|protein
MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLR
RLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNH
EEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTML
DRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIR
QIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLT
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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) 1 (9) 0 (0) 0 (0) 1 (1) 22 (14)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Krumm N, 2015 - ---- 1266 - - - - - -
Richard AC, 2016 - -ASD - - - - 2446 4768 1681
Richard AC, 2016 - -ASD - - - - 676 1005 1681
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Turner TN, 2016 53 - 27 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
Geisheker MR, 2017 - - 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
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