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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 SNRNP200






    Basic information
    Official symbolSNRNP200
    Official full namesmall nuclear ribonucleoprotein 200kDa (U5)
    Location2q11.2
    Gene typeprotein-coding
    SynonymsASCC3L1|BRR2|HELIC2|RP33|U5-200KD
    Quick linksEntrez ID:23020; HGNC:30859; MIM:601664; Ensembl:ENSG00000144028; HPRD:03391; Vega:OTTHUMG00000130455
    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:0043168anion binding24024026.721.500.00480.0336
    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
    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
    chr29693907396972307610359Retinitis pigmentosa 3336016642q11.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr2969390739697230723020Snrnp200MGI:2444401MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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