Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

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

    Detailed information for PRPF3






    Basic information
    Official symbolPRPF3
    Official full namepre-mRNA processing factor 3
    Location1q21.1
    Gene typeprotein-coding
    SynonymsHPRP3|HPRP3P|PRP3|Prp3p|RP18|SNRNP90
    Quick linksEntrez ID:9129; HGNC:17348; MIM:607301; Ensembl:ENSG00000117360; HPRD:07389; Vega:OTTHUMG00000012807
    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
    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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11502929271503267049129Prpf3MGI:1918017MP:0001186pigmentation phenotype
    chr11502929271503267049129Prpf3MGI:1918017MP:0005391vision/eye phenotype
    chr11502929271503267049129Prpf3MGI:1918017MP:0010768mortality/aging
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.