AutismKB 2.0

Evidence Details for TRIT1


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Basic Information Top
Gene Symbol:TRIT1 ( FLJ20061,IPT,MGC149242,MGC149243,MOD5 )
Gene Full Name: tRNA isopentenyltransferase 1
Band: 1p34.2
Quick LinksEntrez ID:54802; OMIM: NA; Uniprot ID:MOD5_HUMAN; ENSEMBL ID: ENSG00000043514; HGNC ID: 20286
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIT1|54802|nucleotide
ATGGCGTCCGTGGCGGCTGCACGAGCAGTTCCCGTGGGCAGTGGGCTCAGGGGCCTGCAACGGACCCTACCTCTTGTAGTGATTCTCGGGGCCACGGGCACCGGC
AAATCCACGCTGGCGTTGCAGCTAGGCCAGCGGCTCGGCGGTGAGATCGTCAGCGCTGACTCCATGCAGGTCTATGAAGGCCTAGACATCATCACCAACAAGGTT
TCTGCCCAAGAGCAGAGAATCTGCCGGCACCACATGATCAGCTTTGTGGATCCTCTTGTGACCAATTACACAGTGGTGGACTTCAGAAATAGAGCAACTGCTCTG
ATTGAAGATATATTTGCCCGAGACAAAATTCCTATTGTTGTGGGAGGAACCAATTATTACATTGAATCTCTGCTCTGGAAAGTTCTTGTCAATACCAAGCCCCAG
GAGATGGGCACTGAGAAAGTGATTGACCGAAAAGTGGAGCTTGAAAAGGAGGATGGTCTTGTACTTCACAAACGCCTAAGCCAGGTGGACCCAGAAATGGCTGCC
AAGCTGCATCCACATGACAAACGCAAAGTGGCCAGGAGCTTGCAAGTTTTTGAAGAAACAGGAATCTCTCATAGTGAATTTCTCCATCGTCAACATACGGAAGAA
GGTGGTGGTCCCCTTGGAGGTCCTCTGAAGTTCTCTAACCCTTGCATCCTTTGGCTTCATGCTGACCAGGCAGTTCTAGATGAGCGCTTGGATAAGAGGGTGGAT
GACATGCTTGCTGCTGGGCTCTTGGAGGAACTAAGAGATTTTCACAGACGCTATAATCAGAAGAATGTTTCGGAAAATAGCCAGGACTATCAACATGGTATCTTC
CAATCAATTGGCTTCAAGGAATTTCACGAGTACCTGATCACTGAGGGAAAATGCACACTGGAGACTAGTAACCAGCTTCTAAAGAAAGGTATTGAGGCTCTGAAA
CAAGTAACTAAGAGATATGCCCGGAAACAAAACCGATGGGTTAAAAACCGTTTTTTGAGCAGACCTGGTCCCATTGTCCCCCCTGTCTATGGCTTAGAGGTATCT
GATGTCTCGAAGTGGGAAGAGTCTGTTCTTGAACCTGCTCTTGAAATCGTGCAAAGTTTCATCCAGGGCCACAAGCCTACAGCCACTCCAATAAAGATGCCATAC
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>TRIT1|54802|protein
MASVAAARAVPVGSGLRGLQRTLPLVVILGATGTGKSTLALQLGQRLGGEIVSADSMQVYEGLDIITNKVSAQEQRICRHHMISFVDPLVTNYTVVDFRNRATAL
IEDIFARDKIPIVVGGTNYYIESLLWKVLVNTKPQEMGTEKVIDRKVELEKEDGLVLHKRLSQVDPEMAAKLHPHDKRKVARSLQVFEETGISHSEFLHRQHTEE
GGGPLGGPLKFSNPCILWLHADQAVLDERLDKRVDDMLAAGLLEELRDFHRRYNQKNVSENSQDYQHGIFQSIGFKEFHEYLITEGKCTLETSNQLLKKGIEALK
QVTKRYARKQNRWVKNRFLSRPGPIVPPVYGLEVSDVSKWEESVLEPALEIVQSFIQGHKPTATPIKMPYNEAENKRSYHLCDLCDRIIIGDREWAAHIKSKSHL
NQLKKRRRLDSDAVNTIESQSVSPDHNKEPKEKGSPGQNDQELKCSV
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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 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
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
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
1.15 Up 0.00000036
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_017646
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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