AutismKB 2.0

Evidence Details for HARS2


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Basic Information Top
Gene Symbol:HARS2 ( HARSL,HARSR,HO3 )
Gene Full Name: histidyl-tRNA synthetase 2, mitochondrial (putative)
Band: 5q31.3
Quick LinksEntrez ID:23438; OMIM: 600783; Uniprot ID:SYHM_HUMAN; ENSEMBL ID: ENSG00000112855; HGNC ID: 4817
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HARS2|23438|nucleotide
ATGCCCCTGCTCGGACTTCTTCCCAGGAGGGCCTGGGCTTCGCTGCTCAGCCAGCTCCTGCGACCGCCCTGCGCTTCGTGCACCGGGGCGGTCCGTTGCCAAAGC
CAGGTTGCAGAGGCAGTGTTAACATCCCAACTGAAAGCACATCAAGAGAAACCAAATTTTATTATCAAGACCCCAAAGGGTACCAGGGATCTTAGTCCTCAGCAT
ATGGTTGTGAGGGAGAAAATTCTTGATTTGGTTATCAGCTGCTTTAAACGTCATGGAGCAAAGGGGATGGACACCCCAGCATTTGAGCTGAAGGAAACCCTGACT
GAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGATCAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACTGTTCCCTTTGCTCGTTATCTG
GCCATGAATAAGGTGAAGAAGATGAAACGTTATCATGTTGGAAAGGTGTGGCGGCGAGAGAGCCCAACCATAGTCCAAGGCCGTTATAGGGAGTTCTGCCAGTGT
GATTTTGACATTGCTGGTCAGTTTGACCCTATGATCCCCGATGCAGAGTGTTTGAAGATCATGTGTGAAATCCTAAGTGGATTGCAGTTGGGAGACTTTCTCATT
AAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGATG
GCTTGGAAAGATGTGAGACATGAGATGGTGGTGAAGAAAGGCCTGGCTCCTGAGGTGGCTGATCGAATTGGGGACTATGTCCAGTGTCATGGTGGGGTATCCCTA
GTAGAGCAAATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCTGGAGGGCCTGGGAGACCTAAAGCTGCTATTTGAATACCTGACTTTATTTGGAATT
GCTGATAAGATCTCCTTTGACCTCAGCCTGGCTCGGGGCCTAGACTACTATACAGGAGTGATCTATGAAGCAGTGCTGCTGCAGACCCCAACTCAGGCTGGGGAG
GAGCCCCTGAATGTGGGCAGTGTGGCTGCTGGTGGGCGCTATGATGGGCTGGTGGGCATGTTTGACCCCAAGGGCCACAAGGTGCCATGTGTGGGACTCAGCATT
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>HARS2|23438|protein
MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLT
EKYGEDSGLMYDLKDQGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLI
KVNDRRIVDGMFAVCGVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGI
ADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKN
FLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top