WormBase Tree Display for Variation: WBVar00088333

WBVar00088333 Evidence: Paper_evidence: WBPaper00003386
  Name: Public_name: ku194
    Other_name (17)
    HGVSg: CHROMOSOME_X:g.5672291C>T
  Sequence_details: SMap: S_parent: Sequence: W01C8
    Flanking_sequences: ctcctgaggcagcacgaactgatgcagcat agcagcaacaaatgataattgctaacatgt
    Mapping_target: W01C8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003386
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin (4)
  Affects: Gene: WBGene00001182
    Transcript: T22B7.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1e.1:c.439C>T
        HGVSp: CE51749:p.Gln147Ter
        cDNA_position: 439
        CDS_position: 439
        Protein_position: 147
        Exon_number: 5/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1d.1:c.82C>T
        HGVSp: CE05030:p.Gln28Ter
        cDNA_position: 863
        CDS_position: 82
        Protein_position: 28
        Exon_number: 5/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1d.2:c.82C>T
        HGVSp: CE05030:p.Gln28Ter
        cDNA_position: 803
        CDS_position: 82
        Protein_position: 28
        Exon_number: 4/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1a.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1a.3:c.535C>T
        HGVSp: CE28487:p.Gln179Ter
        cDNA_position: 661
        CDS_position: 535
        Protein_position: 179
        Exon_number: 8/13
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1b.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1b.2:c.73C>T
        HGVSp: CE33702:p.Gln25Ter
        cDNA_position: 434
        CDS_position: 73
        Protein_position: 25
        Exon_number: 6/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1f.1:c.64C>T
        HGVSp: CE51712:p.Gln22Ter
        cDNA_position: 64
        CDS_position: 64
        Protein_position: 22
        Exon_number: 1/5
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1b.1:c.73C>T
        HGVSp: CE33702:p.Gln25Ter
        cDNA_position: 391
        CDS_position: 73
        Protein_position: 25
        Exon_number: 6/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1a.1:c.535C>T
        HGVSp: CE28487:p.Gln179Ter
        cDNA_position: 610
        CDS_position: 535
        Protein_position: 179
        Exon_number: 8/13
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1b.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1b.3:c.73C>T
        HGVSp: CE33702:p.Gln25Ter
        cDNA_position: 315
        CDS_position: 73
        Protein_position: 25
        Exon_number: 5/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1a.2:c.535C>T
        HGVSp: CE28487:p.Gln179Ter
        cDNA_position: 536
        CDS_position: 535
        Protein_position: 179
        Exon_number: 7/12
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      T22B7.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T22B7.1c.1:c.391C>T
        HGVSp: CE38552:p.Gln131Ter
        cDNA_position: 391
        CDS_position: 391
        Protein_position: 131
        Exon_number: 5/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000501481
      WBInteraction000501482
      WBInteraction000501869
      WBInteraction000520308
      WBInteraction000555306
  Genetics: Interpolated_map_position: X -4.407
  Description: Phenotype (13)
    Phenotype_not_observed: WBPhenotype:0000197 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        Remark: pi cell precursors adopt a pi fate, as assayed by their division patterns (56/63 cells lineaged) and the expression of pi-cell specific markers lin-11::gfp and cog-2::gfp in ku194 animals. Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003386
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007813 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
      WBPhenotype:0001414 Paper_evidence: WBPaper00003386
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00003386
                Curator_confirmed: WBPerson712
  Reference: WBPaper00042395
    WBPaper00003386
    WBPaper00006298
  Method: Substitution_allele