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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for HARS






    Basic information
    Official symbolHARS
    Official full namehistidyl-tRNA synthetase
    Location5q31.3
    Gene typeprotein-coding
    SynonymsHRS|USH3B
    Quick linksEntrez ID:3035; HGNC:4816; MIM:142810; Ensembl:ENSG00000170445; HPRD:00827; Vega:OTTHUMG00000129502
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr5140052489140072312614504Usher syndrome type 3B31428105q31.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr51400524891400723123035HarsMGI:108087--
    Mutation spectrum

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    Gene-disease network

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