AutismKB 2.0

Evidence Details for AARS


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Basic Information Top
Gene Symbol:AARS ( CMT2N )
Gene Full Name: alanyl-tRNA synthetase
Band: 16q22.1
Quick LinksEntrez ID:16; OMIM: 601065; Uniprot ID:SYAC_HUMAN; ENSEMBL ID: ENSG00000090861; HGNC ID: 20
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AARS|16|nucleotide
ATGGACTCTACTCTAACAGCAAGTGAAATCCGGCAGCGATTTATAGATTTCTTCAAGAGGAACGAGCATACGTATGTTCACTCGTCTGCCACCATCCCATTGGAT
GACCCCACTTTGCTCTTTGCCAATGCAGGCATGAACCAGTTTAAACCCATTTTCCTGAACACAATTGACCCATCTCACCCCATGGCAAAGCTGAGCAGAGCTGCC
AATACCCAGAAGTGCATCCGGGCTGGGGGCAAACATAATGACCTGGACGATGTGGGCAAGGATGTCTATCATCACACCTTCTTCGAGATGCTGGGCTCTTGGTCT
TTTGGAGATTACTTTAAGGAATTGGCATGTAAGATGGCTCTGGAACTCCTCACCCAAGAGTTTGGCATTCCCATTGAAAGACTTTATGTTACTTACTTTGGCGGG
GATGAAGCAGCTGGCTTAGAAGCAGATCTGGAATGCAAACAGATCTGGCAAAATTTGGGGCTGGATGACACCAAAATCCTCCCAGGCAACATGAAGGATAACTTC
TGGGAGATGGGTGACACGGGCCCCTGTGGTCCTTGCAGTGAGATCCACTACGACCGGATTGGTGGTCGGGACGCCGCACATCTTGTCAACCAGGACGACCCTAAT
GTGCTGGAGATCTGGAACCTTGTGTTCATCCAGTATAACAGGGAAGCTGATGGCATTCTGAAACCTCTTCCCAAGAAAAGCATTGACACAGGGATGGGCCTGGAA
CGACTGGTATCTGTGCTGCAGAATAAGATGTCCAACTATGACACTGACCTTTTTGTCCCTTACTTTGAAGCCATTCAGAAGGGCACAGGTGCCCGACCATACACT
GGGAAAGTTGGTGCTGAGGATGCCGATGGGATTGACATGGCCTACCGGGTGCTGGCTGACCACGCTCGGACCATCACTGTGGCACTGGCTGATGGTGGCCGGCCT
GACAACACAGGGCGTGGATATGTGTTGAGACGGATTCTCCGCCGAGCTGTCCGATACGCCCATGAAAAGCTCAATGCCAGCAGGGGCTTCTTTGCTACGTTAGTG
GATGTTGTCGTCCAGTCCCTGGGAGATGCATTTCCTGAGCTGAAGAAGGACCCAGACATGGTGAAGGACATCATTAATGAAGAAGAGGTGCAGTTTCTCAAGACT
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>AARS|16|protein
MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPSHPMAKLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWS
FGDYFKELACKMALELLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLGLDDTKILPGNMKDNFWEMGDTGPCGPCSEIHYDRIGGRDAAHLVNQDDPN
VLEIWNLVFIQYNREADGILKPLPKKSIDTGMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLADHARTITVALADGGRP
DNTGRGYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDAFPELKKDPDMVKDIINEEEVQFLKTLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGF
PVDLTGLIAEEKGLVVDMDGFEEERKLAQLKSQGKGAGGEDLIMLDIYAIEELRARGLEVTDDSPKYNYHLDSSGSYVFENTVATVMALRREKMFVEEVSTGQEC
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top