AutismKB 2.0

Evidence Details for VARS


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Basic Information Top
Gene Symbol:VARS ( G7A,VARS1,VARS2 )
Gene Full Name: valyl-tRNA synthetase
Band: 6p21.33
Quick LinksEntrez ID:7407; OMIM: 192150; Uniprot ID:SYVC_HUMAN; ENSEMBL ID: ENSG00000204394; HGNC ID: 12651
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VARS|7407|nucleotide
ATGTCCACCCTCTACGTCTCCCCTCACCCAGATGCCTTCCCCAGCCTCCGAGCCCTCATAGCCGCTCGCTATGGGGAGGCTGGGGAGGGTCCCGGATGGGGAGGA
GCCCACCCCCGCATCTGTCTCCAGCCACCCCCGACTAGCAGGACTCCCTTTCCCCCACCCCGCCTGCCGGCCCTGGAGCAGGGGCCCGGTGGGCTCTGGGTGTGG
GGGGCCACGGCTGTGGCCCAGCTGCTGTGGCCAGCAGGCCTGGGGGGCCCAGGGGGCAGCCGGGCGGCTGTCCTTGTCCAACAGTGGGTCAGTTACGCCGACACG
GAGTTAATACCAGCTGCCTGTGGAGCAACGCTGCCGGCCCTGGGACTCCGAAGCTCGGCCCAGGACCCCCAGGCTGTGCTGGGGGCCCTGGGCAGGGCCCTGAGC
CCCTTGGAGGAGTGGCTTCGGCTGCACACCTACTTGGCCGGGGAGGCCCCCACTCTGGCTGACCTGGCGGCTGTCACAGCCTTGCTGCTGCCTTTCCGATACGTC
CTAGACCCACCTGCCCGCCGGATCTGGAATAATGTGACTCGCTGGTTTGTCACGTGTGTCCGGCAGCCAGAATTCCGAGCCGTGCTAGGAGAAGTGGTTCTATAC
TCAGGAGCCAGGCCTCTCTCTCATCAGCCAGGCCCCGAGGCTCCTGCCCTCCCAAAGACAGCTGCTCAGCTCAAGAAAGAGGCAAAGAAACGGGAGAAGCTAGAG
AAATTCCAACAGAAGCAGAAGATCCAACAGCAGCAGCCACCTCCAGGGGAGAAGAAACCAAAACCAGAGAAGAGGGAGAAACGGGATCCTGGGGTCATTACCTAT
GACCTCCCAACCCCACCCGGGGAAAAGAAAGATGTCAGTGGCCCCATGCCCGACTCCTACAGCCCTCGGTATGTGGAGGCTGCCTGGTACCCTTGGTGGGAGCAG
CAGGGCTTCTTCAAGCCAGAGTATGGGCGTCCTAATGTGTCAGCAGCAAATCCCCGAGGTGTCTTCATGATGTGCATCCCACCCCCCAATGTGACAGGCTCCCTG
CACCTGGGCCATGCACTCACCAACGCCATCCAGGACTCCCTGACTCGATGGCACCGCATGCGTGGGGAGACCACCCTGTGGAACCCTGGCTGTGACCATGCAGGT
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>VARS|7407|protein
MSTLYVSPHPDAFPSLRALIAARYGEAGEGPGWGGAHPRICLQPPPTSRTPFPPPRLPALEQGPGGLWVWGATAVAQLLWPAGLGGPGGSRAAVLVQQWVSYADT
ELIPAACGATLPALGLRSSAQDPQAVLGALGRALSPLEEWLRLHTYLAGEAPTLADLAAVTALLLPFRYVLDPPARRIWNNVTRWFVTCVRQPEFRAVLGEVVLY
SGARPLSHQPGPEAPALPKTAAQLKKEAKKREKLEKFQQKQKIQQQQPPPGEKKPKPEKREKRDPGVITYDLPTPPGEKKDVSGPMPDSYSPRYVEAAWYPWWEQ
QGFFKPEYGRPNVSAANPRGVFMMCIPPPNVTGSLHLGHALTNAIQDSLTRWHRMRGETTLWNPGCDHAGIATQVVVEKKLWREQGLSRHQLGREAFLQEVWKWK
EEKGDRIYHQLKKLGSSLDWDRACFTMDPKLSAAVTEAFVRLHEEGIIYRSTRLVNWSCTLNSAISDIEVDKKELTGRTLLSVPGYKEKVEFGVLVSFAYKVQGS
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 1 (1) 0 (1) 0 (1) 0 (0) 0 (0) 3 (5)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top