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