AutismKB 2.0

Evidence Details for UBE2O


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Basic Information Top
Gene Symbol:UBE2O ( E2-230K,FLJ12878,KIAA1734 )
Gene Full Name: ubiquitin-conjugating enzyme E2O
Band: 17q25.1
Quick LinksEntrez ID:63893; OMIM: NA; Uniprot ID:UBE2O_HUMAN; ENSEMBL ID: ENSG00000175931; HGNC ID: 29554
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBE2O|63893|nucleotide
ATGGCGGATCCCGCAGCCCCCACGCCCGCAGCTCCCGCTCCAGCCCAGGCCCCGGCTCCAGCCCCGGAGGCAGTCCCGGCCCCAGCCGCAGCCCCCGTCCCGGCG
CCGGCGCCCGCCTCGGACTCGGCCTCCGGGCCGTCCTCGGACTCCGGCCCAGAAGCCGGCTCGCAGCGCCTGCTGTTTTCTCACGACCTGGTGTCGGGCCGTTAC
CGTGGCTCCGTGCACTTCGGGCTGGTGCGCCTCATCCACGGCGAGGACTCGGACTCGGAGGGCGAGGAGGAGGGCCGCGGGAGCTCGGGGTGCTCCGAGGCCGGG
GGCGCGGGCCACGAGGAGGGCCGGGCCAGCCCCCTGCGCCGCGGCTACGTGCGCGTCCAGTGGTACCCGGAGGGCGTCAAGCAGCATGTGAAGGAGACCAAGCTG
AAACTAGAGGACCGTTCTGTGGTGCCCCGAGATGTGGTCCGGCACATGCGATCCACCGACAGTCAGTGTGGCACGGTGATCGACGTCAACATCGACTGTGCCGTC
AAGCTCATCGGCACCAACTGCATCATCTATCCCGTCAACAGCAAGGACCTGCAGCACATCTGGCCCTTCATGTATGGGGACTACATTGCCTATGACTGCTGGCTG
GGGAAGGTCTACGACTTGAAGAACCAGATCATCCTGAAGCTATCCAACGGCGCCAGGTGCTCCATGAACACGGAAGATGGCGCCAAGCTCTACGACGTCTGCCCG
CACGTCAGCGACTCGGGTCTCTTCTTCGATGATTCCTATGGCTTCTACCCAGGCCAGGTGCTCATTGGCCCTGCCAAGATCTTCTCCAGCGTCCAGTGGCTGTCA
GGTGTCAAGCCCGTGCTCAGCACCAAGAGCAAGTTCCGAGTGGTGGTGGAAGAGGTGCAGGTTGTAGAGTTGAAAGTTACATGGATTACCAAGAGTTTCTGTCCA
GGGGGCACGGACAGCGTCAGCCCCCCACCCTCTGTCATCACCCAGGAAAACCTAGGCAGGGTGAAGCGTCTCGGATGCTTTGACCATGCTCAGCGGCAGCTTGGG
GAGCGCTGTCTGTATGTCTTCCCAGCCAAGGTAGAGCCAGCCAAGATTGCCTGGGAATGTCCAGAAAAAAACTGCGCCCAGGGGGAGGGCTCTATGGCCAAGAAG
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>UBE2O|63893|protein
MADPAAPTPAAPAPAQAPAPAPEAVPAPAAAPVPAPAPASDSASGPSSDSGPEAGSQRLLFSHDLVSGRYRGSVHFGLVRLIHGEDSDSEGEEEGRGSSGCSEAG
GAGHEEGRASPLRRGYVRVQWYPEGVKQHVKETKLKLEDRSVVPRDVVRHMRSTDSQCGTVIDVNIDCAVKLIGTNCIIYPVNSKDLQHIWPFMYGDYIAYDCWL
GKVYDLKNQIILKLSNGARCSMNTEDGAKLYDVCPHVSDSGLFFDDSYGFYPGQVLIGPAKIFSSVQWLSGVKPVLSTKSKFRVVVEEVQVVELKVTWITKSFCP
GGTDSVSPPPSVITQENLGRVKRLGCFDHAQRQLGERCLYVFPAKVEPAKIAWECPEKNCAQGEGSMAKKVKRLLKKQVVRIMSCSPDTQCSRDHSMEDPDKKGE
SKTKSEAESASPEETPDGSASPVEMQDEGAEEPHEAGEQLPPFLLKEGRDDRLHSAEQDADDEAADDTDDTSSVTSSASSTTSSQSGSGTSRKKSIPLSIKNLKR
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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 (1) 1 (1) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 15 (4)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.953281 Down 32.5297
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1746579
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
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