AutismKB 2.0

Evidence Details for MTO1


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Basic Information Top
Gene Symbol:MTO1 ( - )
Gene Full Name: mitochondrial translation optimization 1 homolog (S. cerevisiae)
Band: 6q13
Quick LinksEntrez ID:25821; OMIM: NA; Uniprot ID:MTO1_HUMAN; ENSEMBL ID: ENSG00000135297; HGNC ID: 19261
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTO1|25821|nucleotide
ATGTTCTACTTCCGAGGCTGTGGCCGTTGGGTCGCGGTTTCCTTCACCAAGCAGCAATTTCCGTTGGCACGGTTGAGCAGTGACAGCGCGGCGCCCCGGACTCCG
CACTTCGACGTGATAGTCATTGGTGGAGGACATGCCGGGACTGAGGCAGCCACCGCCGCCGCTCGGTGCGGCTCTCGGACTCTGCTCCTCACTCACCGCGTGGAC
ACGATCGGTCAGATGTCATGTAATCCTTCCTTTGGTGGCATCGGAAAGGGACATTTAATGAGGGAAGTAGATGCCTTGGATGGCCTGTGTTCTCGCATCTGTGAC
CAGTCTGGTGTACATTATAAAGTATTAAACCGGCGTAAGGGACCAGCTGTGTGGGGTCTGAGAGCTCAGATTGATAGGAAACTCTATAAACAGAACATGCAGAAA
GAAATCTTGAATACACCACTGCTTACTGTTCAGGAGGGAGCTGTAGAAGATCTTATTCTTACAGAACCAGAGCCTGAACACACTGGGAAATGCCGTGTCAGTGGG
GTTGTTTTGGTGGATGGAAGCACAGTATATGCAGAGAGTGTGATTCTGACTACTGGGACATTTCTGAGAGGCATGATTGTAATTGGATTGGAGACGCATCCAGCA
GGACGTTTAGGGGATCAGCCTTCTATAGGATTGGCTCAGACACTGGAGAAGTTAGGGTTTGTGGTGGGAAGGTTGAAGACTGGGACTCCACCCCGAATTGCCAAA
GAGTCCATTAATTTCAGTATTCTAAACAAGCATATACCGGACAATCCATCCATACCATTCAGCTTTACCAATGAGACAGTATGGATTAAGCCAGAAGATCAGCTG
CCATGTTACTTGACTCACACCAACCCTAGAGTGGATGAGATTGTCCTTAAGAACCTTCACCTTAATAGTCATGTTAAAGAAACGACAAGAGGACCTCGATACTGT
CCCTCCATTGAATCAAAAGTTTTGCGTTTTCCAAACCGTCTACATCAGGTTTGGTTGGAACCTGAAGGAATGGATTCTGACCTTATCTACCCACAGGGGTTATCT
ATGACGCTACCAGCTGAGTTACAAGAGAAAATGATCACATGCATCAGAGGCTTGGAGAAAGCTAAAGTGATTCAGCCAGGCTACGGTGTTCAGTATGATTACTTA
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>MTO1|25821|protein
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPSFGGIGKGHLMREVDALDGLCSRICD
QSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLILTEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPA
GRLGDQPSIGLAQTLEKLGFVVGRLKTGTPPRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYC
PSIESKVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQRLFFAGQINGTTGYEEAAAQ
TECCSVARLECSDMISQLQAILLPQPSLVAGTAGMHHNTQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRL
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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 (1) 0 (0) 0 (1) 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
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
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.

Simple Query:


  (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