AutismKB 2.0

Evidence Details for EIF3G


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Basic Information Top
Gene Symbol:EIF3G ( EIF3-P42,EIF3S4,eIF3-delta,eIF3-p44 )
Gene Full Name: eukaryotic translation initiation factor 3, subunit G
Band: 19p13.2
Quick LinksEntrez ID:8666; OMIM: 603913; Uniprot ID:EIF3G_HUMAN; ENSEMBL ID: ENSG00000130811; HGNC ID: 3274
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF3G|8666|nucleotide
ATGCCTACTGGAGACTTTGATTCGAAGCCCAGTTGGGCCGACCAGGTGGAGGAGGAGGGGGAGGACGACAAATGTGTCACCAGCGAGCTCCTCAAGGGGATCCCT
CTGGCCACAGGTGACACCAGCCCAGAGCCAGAGCTACTGCCGGGAGCTCCACTGCCGCCTCCCAAGGAGGTCATCAACGGAAACATAAAGACAGTGACAGAGTAC
AAGATAGATGAGGATGGCAAGAAGTTCAAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGAACTGGAAGAAGTTC
GGGAACTCAGAGTTTGACCCCCCCGGACCCAATGTGGCCACCACCACTGTCAGTGACGATGTCTCTATGACGTTCATCACCAGCAAAGAGGACCTGAACTGCCAG
GAGGAGGAGGACCCTATGAACAAACTCAAGGGCCAGAAGATCGTGTCCTGCCGCATCTGCAAGGGCGACCACTGGACCACCCGCTGCCCCTACAAGGATACGCTG
GGGCCCATGCAGAAGGAGCTGGCCGAGCAGCTGGGCCTGTCTACTGGCGAGAAGGAGAAGCTGCCGGGAGAGCTAGAGCCGGTGCAGGCCACGCAGAACAAGACA
GGGAAGTATGTGCCGCCGAGCCTGCGCGACGGGGCCAGCCGCCGCGGGGAGTCCATGCAGCCCAACCGCAGAGCCGACGACAACGCCACCATCCGTGTCACCAAC
TTGTCAGAGGACACGCGTGAGACCGACCTGCAGGAGCTCTTCCGGCCTTTCGGCTCCATCTCCCGCATCTACCTGGCTAAGGACAAGACCACTGGCCAATCCAAG
GGCTTTGCCTTCATCAGCTTCCACCGCCGCGAGGATGCTGCGCGTGCCATTGCCGGGGTGTCCGGCTTTGGCTACGACCACCTCATCCTCAACGTCGAGTGGGCC
AAGCCGTCCACCAACTAA

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>EIF3G|8666|protein
MPTGDFDSKPSWADQVEEEGEDDKCVTSELLKGIPLATGDTSPEPELLPGAPLPPPKEVINGNIKTVTEYKIDEDGKKFKIVRTFRIETRKASKAVARRKNWKKF
GNSEFDPPGPNVATTTVSDDVSMTFITSKEDLNCQEEEDPMNKLKGQKIVSCRICKGDHWTTRCPYKDTLGPMQKELAEQLGLSTGEKEKLPGELEPVQATQNKT
GKYVPPSLRDGASRRGESMQPNRRADDNATIRVTNLSEDTRETDLQELFRPFGSISRIYLAKDKTTGQSKGFAFISFHRREDAARAIAGVSGFGYDHLILNVEWA
KPSTN

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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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

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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