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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 PRPF8






    Basic information
    Official symbolPRPF8
    Official full namepre-mRNA processing factor 8
    Location17p13.3
    Gene typeprotein-coding
    SynonymsHPRP8|PRP8|PRPC8|RP13|SNRNP220
    Quick linksEntrez ID:10594; HGNC:17340; MIM:607300; Ensembl:ENSG00000174231; HPRD:06295; Vega:OTTHUMG00000090553
    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:0005682U5 snRNP630.0745.842.49e-050.0001
    GO:0030532small nuclear ribonucleoprotein complex3350.3613.892.71e-050.0002
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    mRNA Splicing - Minor PathwayPathway commons4230.1915.880.00090.0055
    mRNA SplicingPathway commons10740.488.310.00140.0076
    mRNA Splicing - Major PathwayPathway commons10740.488.310.00140.0076
    Processing of Capped Intron-Containing Pre-mRNAPathway commons13840.626.440.00360.0185
    mRNA ProcessingPathway commons15740.715.660.00570.0267
    Formation and Maturation of mRNA TranscriptPathway commons18540.834.810.01000.0429
    SpliceosomeKEGG12760.5710.502.52e-050.0002
    mRNA processingWIKI13240.596.740.00310.0114
    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
    Hsapiens_Module_981820.0824.340.00280.0132
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr1715529221589176600059Retinitis pigmentosa 13360730017p13.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr171552922158917610594Prpf8MGI:2179381MP:0001186pigmentation phenotype
    chr171552922158917610594Prpf8MGI:2179381MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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