AutismKB 2.0

Evidence Details for TRMT1


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Basic Information Top
Gene Symbol:TRMT1 ( FLJ20244,TRM1 )
Gene Full Name: TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae)
Band: 19p13.13
Quick LinksEntrez ID:55621; OMIM: 611669; Uniprot ID:TRM1_HUMAN; ENSEMBL ID: ENSG00000104907; HGNC ID: 25980
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRMT1|55621|nucleotide
ATGCAAGGATCGTCTCTGTGGCTAAGCCTCACTTTCCGCTCCGCCCGGGTGCTCTCTAGAGCCCGGTTTTTCGAGTGGCAGTCTCCAGGGCTGCCGAATACAGCA
GCGATGGAGAACGGCACCGGGCCCTACGGAGAAGAACGTCCACGTGAAGTCCAGGAGACGACAGTCACCGAGGGGGCTGCCAAAATCGCCTTTCCCAGTGCCAAC
GAGGTCTTTTATAACCCGGTGCAGGAATTCAATCGGGACCTGACATGTGCTGTGATCACCGAGTTTGCTCGCATTCAGCTTGGGGCCAAAGGAATCCAGATCAAG
GTTCCAGGAGAGAAGGACACGCAAAAAGTGGTCGTGGACTTGTCAGAGCAAGAGGAGGAAAAGGTTGAACTGAAAGAGAGTGAAAACCTGGCCTCAGGAGACCAA
CCTCGCACAGCGGCCGTGGGGGAGATCTGTGAGGAAGGCCTGCATGTGCTGGAAGGCCTGGCAGCTTCAGGCCTACGTTCCATTCGATTTGCCCTAGAGGTGCCT
GGGCTCAGATCTGTGGTTGCAAACGATGCCTCCACCCGGGCTGTGGATCTCATACGCCGGAATGTCCAGCTCAATGACGTGGCCCACCTGGTACAGCCGAGCCAA
GCAGATGCCCGGATGCTGATGTACCAGCACCAGAGGGTGTCGGAGAGGTTTGACGTCATCGATCTGGACCCCTATGGCAGCCCAGCCACCTTCCTGGATGCAGCT
GTGCAGGCTGTGAGTGAAGGAGGGTTGCTGTGTGTGACCTGCACAGACATGGCGGTGTTGGCGGGGAACAGCGGGGAGACGTGCTACAGCAAGTACGGGGCCATG
GCCCTCAAGAGCCGGGCCTGCCACGAGATGGCCCTGAGAATCGTCCTGCACAGCCTGGACCTCCGCGCCAACTGCTACCAGCGCTTCGTGGTGCCGCTGCTCAGC
ATCAGCGCTGACTTCTACGTGCGTGTTTTTGTCCGTGTCTTCACCGGCCAGGCCAAGGTCAAGGCCTCAGCCAGCAAGCAGGCGCTGGTGTTCCAGTGTGTGGGC
TGCGGGGCCTTCCACCTTCAGCGTCTCGGCAAAGCGTCAGGAGTCCCCAGCGGCCGGGCCAAGTTCTCTGCAGCCTGTGGTCCCCCTGTGACCCCCGAGTGTGAA
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>TRMT1|55621|protein
MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIAFPSANEVFYNPVQEFNRDLTCAVITEFARIQLGAKGIQIK
VPGEKDTQKVVVDLSEQEEEKVELKESENLASGDQPRTAAVGEICEEGLHVLEGLAASGLRSIRFALEVPGLRSVVANDASTRAVDLIRRNVQLNDVAHLVQPSQ
ADARMLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLS
ISADFYVRVFVRVFTGQAKVKASASKQALVFQCVGCGAFHLQRLGKASGVPSGRAKFSAACGPPVTPECEHCGQRHQLGGPMWAEPIHDLDFVGRVLEAVSANPG
RFHTSERIRGVLSVITEELPDVPLYYTLDQLSSTIHCNTPSLLQLRSALLHADFRVSLSHACKNAVKTDAPASALWDIMRCWEKECPVKRERLSETSPAFRILSV
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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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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