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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for PRPF31






    Basic information
    Official symbolPRPF31
    Official full namepre-mRNA processing factor 31
    Location19q13.42
    Gene typeprotein-coding
    SynonymsNY-BR-99|PRP31|RP11|SNRNP61
    Quick linksEntrez ID:26121; HGNC:15446; MIM:606419; Ensembl:ENSG00000105618; HPRD:05917; Vega:OTTHUMG00000066040
    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:0005515protein binding733710281.611.250.00110.0149
    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
    Hsapiens_Module_9188760.896.720.00030.0022
    Hsapiens_Module_69112161.244.830.00160.0092
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr195461778954636150600138Retinitis pigmentosa 11360641919q13.42
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr19546177895463615026121Prpf31MGI:1916238MP:0001186pigmentation phenotype
    chr19546177895463615026121Prpf31MGI:1916238MP:0005391vision/eye phenotype
    chr19546177895463615026121Prpf31MGI:1916238MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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