AutismKB 2.0

Evidence Details for RARS2


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Basic Information Top
Gene Symbol:RARS2 ( ArgRS,DALRD2,MGC14993,MGC23778,PCH6,PRO1992,RARSL,dJ382I10.6 )
Gene Full Name: arginyl-tRNA synthetase 2, mitochondrial
Band: 6q15
Quick LinksEntrez ID:57038; OMIM: 611524; Uniprot ID:SYRM_HUMAN; ENSEMBL ID: ENSG00000146282; HGNC ID: 21406
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RARS2|57038|nucleotide
ATGGCGTGCGGCTTTCGCCGCGCTATTGCTTGCCAGCTTTCCAGAGTGTTGAATCTTCCACCAGAAAACTTGATCACATCAATATCTGCAGTTCCAATTTCCCAA
AAAGAAGAAGTAGCTGATTTTCAGCTTTCTGTGGATTCTTTATTGGAAAAAGACAATGACCATTCAAGACCAGATATTCAAGTTCAAGCCAAGAGACTAGCAGAG
AAGCTAAGATGTGATACAGTGGTGAGTGAAATCAGTACTGGTCAAAGGACTGTAAATTTCAAAATAAACAGAGAGCTCTTAACAAAGACAGTGCTACAACAAGTA
ATTGAAGATGGCTCAAAATATGGATTAAAAAGTGAACTTTTCTCTGGACTTCCCCAGAAGAAGATTGTGGTTGAATTCAGTTCACCTAATGTTGCCAAAAAATTT
CATGTTGGACATTTGCGTTCTACCATCATAGGAAATTTTATAGCAAATCTCAAAGAAGCTTTAGGACATCAAGTAATAAGAATAAATTACCTTGGCGATTGGGGC
ATGCAGTTTGGTCTTCTGGGAACTGGCTTCCAGCTGTTTGGCTATGAGGAAAAACTGCAGTCCAATCCTCTACAGCATCTCTTTGAAGTTTATGTACAAGTTAAT
AAAGAAGCAGCAGATGATAAAAGTGTAGCAAAAGCAGCACAGGAGTTCTTCCAACGATTGGAACTGGGCGATGTGCAAGCACTTTCACTGTGGCAAAAATTTCGG
GACTTGAGCATTGAAGAGTACATTCGGGTTTACAAGCGTCTGGGAGTATATTTTGATGAATATTCAGGAGAATCATTTTATCGTGAAAAATCTCAAGAGGTCTTA
AAGTTGCTGGAGAGTAAAGGACTCCTACTGAAAACAATAAAAGGAACGGCTGTAGTAGATCTCTCTGGGAATGGCGACCCCTCCTCAATTTGTACTGTAATGCGA
AGTGATGGGACTTCTCTCTATGCAACCAGAGATCTTGCAGCTGCTATAGATCGAATGGACAAGTATAATTTTGATACAATGATATATGTGACAGATAAAGGACAA
AAAAAGCATTTTCAGCAAGTATTCCAAATGCTGAAGATCATGGGATATGACTGGGCAGAAAGGTGCCAGCACGTGCCCTTTGGAGTAGTACAGGGAATGAAGACT
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>RARS2|57038|protein
MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPDIQVQAKRLAEKLRCDTVVSEISTGQRTVNFKINRELLTKTVLQQV
IEDGSKYGLKSELFSGLPQKKIVVEFSSPNVAKKFHVGHLRSTIIGNFIANLKEALGHQVIRINYLGDWGMQFGLLGTGFQLFGYEEKLQSNPLQHLFEVYVQVN
KEAADDKSVAKAAQEFFQRLELGDVQALSLWQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVLKLLESKGLLLKTIKGTAVVDLSGNGDPSSICTVMR
SDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQKKHFQQVFQMLKIMGYDWAERCQHVPFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNP
QETAERVGLAALIIQDFKGLLLSDYKFSWDRVFQSRGDTGVFLQYTHARLHSLEETFGCGYLNDFNTACLQEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYL
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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
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
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top