AutismKB 2.0

Evidence Details for GARS


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Basic Information Top
Gene Symbol:GARS ( CMT2D,DSMAV,GlyRS,HMN5,SMAD1 )
Gene Full Name: glycyl-tRNA synthetase
Band: 7p14.3
Quick LinksEntrez ID:2617; OMIM: 600287; Uniprot ID:SYG_HUMAN; ENSEMBL ID: ENSG00000106105; HGNC ID: 4162
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GARS|2617|nucleotide
ATGCCCTCTCCGCGTCCAGTGCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTGCCGCCCCGGCTCTTAGCCCGACCCTCGCTCCTGCTCCGCCGGTCC
CTCAGCGCGGCCTCCTGCCCCCCGATCTCCTTGCCCGCCGCCGCCTCCCGGAGCAGCATGGACGGCGCGGGGGCTGAGGAGGTGCTGGCACCTCTGAGGCTAGCA
GTGCGCCAGCAGGGAGATCTTGTGCGAAAACTCAAAGAAGATAAAGCACCCCAAGTAGACGTAGACAAAGCAGTGGCTGAGCTCAAAGCCCGCAAGAGGGTTCTG
GAAGCAAAGGAGCTGGCGTTACAGCCCAAAGATGATATTGTAGACCGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGATCAAGCTTTTGCTATT
TATGGAGGTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAATATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATC
CTGGAGATCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGACCTCTGGCCATGTAGACAAATTTGCTGACTTCATGGTGAAAGACGTAAAAAATGGAGAA
TGTTTTCGTGCTGACCATCTATTAAAAGCTCATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAATCAGAAATGGAAAGTGTTTTGGCCCAG
CTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAACTATAATGTAAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAACTTA
ATGTTCAAGACTTTCATTGGGCCTGGAGGAAACATGCCTGGGTACTTGAGACCAGAAACTGCACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAAC
CAAGGAAAGTTGCCTTTTGCTGCTGCCCAGATTGGAAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTGATCAGAGTCAGAGAATTCACAATGGCAGAA
ATTGAGCACTTTGTAGATCCCAGTGAGAAAGACCACCCCAAGTTCCAGAATGTGGCAGACCTTCACCTTTATTTGTATTCAGCAAAAGCCCAGGTCAGCGGACAG
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>GARS|2617|protein
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVL
EAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGE
CFRADHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFN
QGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDEC
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top