AutismKB 2.0

Evidence Details for EPRS


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Basic Information Top
Gene Symbol:EPRS ( DKFZp313B047,EARS,GLUPRORS,PARS,QARS,QPRS )
Gene Full Name: glutamyl-prolyl-tRNA synthetase
Band: 1q41
Quick LinksEntrez ID:2058; OMIM: 138295; Uniprot ID:SYEP_HUMAN; ENSEMBL ID: ENSG00000136628; HGNC ID: 3418
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPRS|2058|nucleotide
ATGGCGACGCTCTCTCTGACCGTGAATTCAGGAGACCCTCCGCTAGGAGCTTTGCTGGCAGTAGAACACGTGAAAGACGATGTCAGCATTTCCGTTGAAGAAGGG
AAAGAGAATATTCTTCATGTTTCTGAAAATGTGATATTCACAGATGTGAATTCTATACTTCGCTACTTGGCTAGAGTTGCAACTACAGCTGGGTTATATGGCTCT
AATCTGATGGAACATACTGAGATTGATCACTGGTTGGAGTTCAGTGCTACAAAATTATCTTCATGTGATTCCTTTACTTCTACAATTAATGAACTCAATCATTGC
CTGTCTCTGAGAACATACTTAGTTGGAAACTCCTTGAGTTTAGCAGATTTATGTGTTTGGGCCACCCTAAAAGGAAATGCTGCCTGGCAAGAACAGTTGAAACAG
AAGAAAGCTCCAGTTCATGTAAAACGTTGGTTTGGCTTTCTTGAAGCCCAGCAGGCCTTCCAGTCAGTAGGTACCAAGTGGGATGTTTCAACAACCAAAGCTCGA
GTGGCACCTGAGAAAAAGCAAGATGTTGGGAAATTTGTTGAGCTTCCAGGTGCGGAGATGGGAAAGGTTACCGTCAGATTTCCTCCAGAGGCCAGTGGTTACTTA
CACATTGGGCATGCAAAAGCTGCTCTTCTGAACCAGCACTACCAGGTTAACTTTAAAGGGAAACTGATCATGAGATTTGATGACACAAATCCTGAAAAAGAAAAG
GAAGATTTTGAGAAGGTTATCTTGGAAGATGTTGCAATGTTGCATATCAAACCAGATCAATTTACTTATACTTCGGATCATTTTGAAACTATAATGAAGTATGCA
GAGAAGCTAATTCAAGAAGGGAAGGCTTATGTGGATGATACTCCTGCTGAACAGATGAAAGCAGAACGTGAGCAGAGGATAGACTCTAAACATAGAAAAAACCCT
ATTGAGAAGAATCTACAAATGTGGGAAGAAATGAAAAAAGGGAGCCAGTTTGGTCAGTCCTGTTGTTTGCGAGCAAAAATTGACATGAGTAGTAACAATGGATGC
ATGAGAGATCCAACCCTTTATCGCTGCAAAATTCAACCACATCCAAGAACTGGAAATAAATACAATGTTTATCCAACATATGATTTTGCCTGCCCCATAGTTGAC
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>EPRS|2058|protein
MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHC
LSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEKKQDVGKFVELPGAEMGKVTVRFPPEASGYL
HIGHAKAALLNQHYQVNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMKAEREQRIDSKHRKNP
IEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYI
WEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQE
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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 (1) 0 (0) 0 (1) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top