AutismKB 2.0

Evidence Details for TARSL2


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Basic Information Top
Gene Symbol:TARSL2 ( FLJ25005 )
Gene Full Name: threonyl-tRNA synthetase-like 2
Band: 15q26.3
Quick LinksEntrez ID:123283; OMIM: NA; Uniprot ID:SYTC2_HUMAN; ENSEMBL ID: ENSG00000185418; HGNC ID: 24728
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TARSL2|123283|nucleotide
ATGGCGGCCGAGGCCCTGGCGGCGGAGGCCGTGGCGTCGCGCCTGGAGCGGCAGGAGGAGGACATCCGCTGGCTGTGGTCGGAGGTCGAGCGCCTGAGGGACGAG
CAGCTGAACGCGCCCTACAGCTGCCAGGCGGAGGGGCCGTGCCTCACGCGGGAGGTGGCGCAGCTCCGGGCCGAGAACTGCGACCTGCGCCACCGCCTGTGCAGC
CTGCGGCTGTGCCTCGCCGAGGAGCGGAGCCGCCAGGCCACGCTGGAGAGCGCGGAGCTAGAGGCGGCGCAGGAGGCCGGCGCACAGCCTCCTCCTAGTCAAAGC
CAAGACAAGGACATGAAAAAGAAGAAAATGAAGGAAAGCGAGGCTGACAGCGAGGTGAAGCATCAACCAATTTTCATAAAAGAAAGATTGAAGCTTTTTGAAATA
CTGAAGAAAGACCATCAGCTCTTACTTGCCATTTATGGAAAAAAGGGGGATACAAGCAACATCATCACAGTAAGAGTGGCTGATGGGCAAACAGTGCAAGGGGAA
GTCTGGAAAACAACGCCTTACCAAGTGGCTGCTGAAATTAGTCAGGAACTGGCTGAAAGCACGGTAATAGCCAAAGTCAATGGTGAACTGTGGGACCTGGACCGC
CCATTGGAAGGGGACTCTTCTCTAGAGCTGCTTACATTTGATAATGAGGAAGCTCAAGCTGTGTACTGGCACTCCAGTGCTCACATTCTTGGGGAGGCCATGGAG
CTTTACTATGGAGGCCACCTGTGCTACGGTCCGCCCATTGAAAATGGATTTTATTATGACATGTTCATTGAAGACAGAGCAGTGTCCAGCACAGAATTGTCAGCC
CTGGAGAATATATGTAAAGCCATCATAAAAGAAAAGCAACCTTTTGAAAGACTAGAAGTCAGCAAGGAAATCCTCCTGGAAATGTTTAAGTACAATAAATTTAAA
TGCCGCATTCTGAATGAGAAAGTTAACACTGCAACTACCACCGTGTACAGGTGCGGTCCATTAATTGACCTTTGCAAAGGTCCACATGTAAGACACACTGGAAAA
ATTAAAACCATCAAAATTTTTAAGAATTCCTCAACATATTGGGAGGGCAATCCGGAAATGGAAACATTGCAGAGGATCTATGGAATATCCTTTCCTGATAACAAG
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>TARSL2|123283|protein
MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERSRQATLESAELEAAQEAGAQPPPSQS
QDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSNIITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDR
PLEGDSSLELLTFDNEEAQAVYWHSSAHILGEAMELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFK
CRILNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPG
SCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELS
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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) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 2 (7)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top