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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for PRPF6






    Basic information
    Official symbolPRPF6
    Official full namepre-mRNA processing factor 6
    Location20q13.33
    Gene typeprotein-coding
    SynonymsANT-1|ANT1|C20orf14|Prp6|SNRNP102|TOM|U5-102K|hPrp6
    Quick linksEntrez ID:24148; HGNC:15860; MIM:613979; Ensembl:ENSG00000101161; HPRD:10729; Vega:OTTHUMG00000033018
    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
    GO:0030532small nuclear ribonucleoprotein complex3350.3613.892.71e-050.0002
    GO:0046540U4/U6 x U5 tri-snRNP complex420.0445.840.00070.0034
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    SpliceosomeKEGG12760.5710.502.52e-050.0002
    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
    chr206261143062665453613983Retinitis pigmentosa 60361397920q13.33
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr20626114306266545324148Prpf6MGI:1922946--
    Mutation spectrum

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    Gene-disease network

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