AutismKB 2.0

Evidence Details for TOMM70A


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Basic Information Top
Gene Symbol:TOMM70A ( FLJ90470 )
Gene Full Name: translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)
Band: 3q12.2
Quick LinksEntrez ID:9868; OMIM: 606081; Uniprot ID:TOM70_HUMAN; ENSEMBL ID: ENSG00000154174; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOMM70A|9868|nucleotide
ATGGCCGCCTCTAAACCTGTGGAGGCAGCGGTGGTCGCAGCCGCTGTACCGAGCTCCGGGAGTGGGGTGGGCGGCGGCGGGACTGCGGGCCCGGGCACGGGGGGG
CTGCCGCGATGGCAGCTGGCTCTGGCGGTCGGGGCACCCCTGCTGCTGGGCGCGGGTGCCATATACCTGTGGAGTCGGCAGCAACGGCGCCGGGAGGCCAGAGGC
CGGGGCGACGCCAGCGGCCTGAAGCGCAACAGCGAACGGAAGACCCCGGAGGGCAGGGCCAGTCCGGCCCCGGGCAGCGGACACCCTGAAGGTCCCGGTGCTCAC
TTGGACATGAACTCTCTTGATAGAGCCCAAGCAGCCAAGAATAAAGGCAATAAATATTTTAAAGCAGGAAAATATGAACAAGCTATTCAGTGCTATACTGAGGCT
ATTAGCTTGTGCCCTACAGAGAAGAATGTTGACCTTTCTACATTTTATCAAAACAGAGCTGCTGCCTTTGAACAGTTGCAAAAATGGAAAGAAGTGGCACAAGAC
TGTACAAAAGCTGTTGAACTTAATCCCAAATATGTGAAAGCTCTCTTTAGACGTGCAAAAGCCCATGAGAAGCTAGACAATAAGAAGGAATGTTTAGAAGATGTC
ACTGCTGTGTGTATATTAGAAGGGTTCCAAAATCAACAAAGCATGCTGTTAGCCGATAAAGTTCTTAAACTCCTTGGAAAAGAGAAAGCCAAAGAAAAATATAAG
AATCGTGAACCTCTGATGCCATCTCCACAGTTTATCAAATCTTACTTCAGTTCTTTCACGGATGATATCATTTCCCAGCCCATGCTTAAAGGAGAGAAATCTGAT
GAAGATAAAGACAAGGAAGGGGAGGCTTTAGAAGTGAAAGAAAATTCTGGATACTTAAAGGCCAAACAGTATATGGAAGAAGAAAACTACGATAAAATCATAAGT
GAATGCTCAAAAGAAATAGATGCTGAAGGCAAATACATGGCAGAAGCATTGCTACTACGAGCTACCTTCTACCTGCTTATTGGCAATGCCAATGCAGCCAAACCA
GATTTAGATAAAGTCATCAGTTTGAAAGAAGCTAATGTGAAGCTTCGAGCAAATGCTCTCATCAAAAGAGGCAGCATGTACATGCAACAGCAGCAGCCTTTGCTG
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>TOMM70A|9868|protein
MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWSRQQRRREARGRGDASGLKRNSERKTPEGRASPAPGSGHPEGPGAH
LDMNSLDRAQAAKNKGNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRAAAFEQLQKWKEVAQDCTKAVELNPKYVKALFRRAKAHEKLDNKKECLEDV
TAVCILEGFQNQQSMLLADKVLKLLGKEKAKEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLKAKQYMEEENYDKIIS
ECSKEIDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKEANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQNADVYHHRGQLKILLDQVEEA
VADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYALYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQ
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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 (0) 0 (0) 0 (1)
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
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