WormBase Tree Display for Variation: WBVar00249019

WBVar00249019 Evidence: Paper_evidence: WBPaper00005610
  Name: Public_name: sy607
    HGVSg: CHROMOSOME_II:g.14902263_14903510del
  Sequence_details: SMap: S_parent: Sequence: R03C1
    Flanking_sequences: ttaagttttggaaaattacaacaaaaaaaa caaactattggaaatattacaagctatttt
    Mapping_target: R03C1
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030887
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00201367
      WBGene00000584
    Transcript: R03C1.3b.1 VEP_consequence: splice_donor_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/4
        Exon_number: 1/5
      R03C1.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-3/5
        Exon_number: 1-3/6
      R03C1.6 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
    Interactor (12)
  Genetics: Interpolated_map_position: II 23.6939
  Description: Phenotype: WBPhenotype:0000154 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000239 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Remark: vulC precursors fail to divide Paper_evidence: WBPaper00005610
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006765 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000399 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Remark: spermathecal-uterine junction core is missing Paper_evidence: WBPaper00005610
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006756 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001376 Paper_evidence: WBPaper00025135
        Curator_confirmed: WBPerson2987
        Remark: "In contrast, cog-1(sy607) caused loss of cdh-3 expression in vulC, vulD, and vulE cells and loss of ceh-2 expression in vulB." Paper_evidence: WBPaper00025135
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006765 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006766 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006767 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006763 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006764 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: syIs50 [cdh-3::gfp] Paper_evidence: WBPaper00025135
              Curator_confirmed: WBPerson2987
            syIs54 [ceh-2::gfp] Paper_evidence: WBPaper00025135
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
          WBPaper00044621
        Curator_confirmed: WBPerson2021
          WBPerson6538
        Remark: ASE asymmetry is disrupted (as seen with lim-6 reporters). 2 ASEL Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
          Fig 3A. Loss of ASE asymmetry Paper_evidence: WBPaper00044621
            Curator_confirmed: WBPerson6538
        Penetrance: High: Paper_evidence: WBPaper00044621
              Curator_confirmed: WBPerson6538
          Complete: Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00044621
            Curator_confirmed: WBPerson6538
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00006052
                  WBPaper00044621
                Curator_confirmed: WBPerson2021
                  WBPerson6538
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs6, otIs114 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00006052
    WBPaper00025135
    WBPaper00017759
    WBPaper00005610
    WBPaper00044621
  Method: Deletion_allele