WormBase Tree Display for Variation: WBVar00249017

WBVar00249017 Evidence: Paper_evidence: WBPaper00005268
  Name: Public_name: sy605
    HGVSg: CHROMOSOME_X:g.6031232_6032182del
  Sequence_details: SMap: S_parent: Sequence: C09B8
    Flanking_sequences: ttactgagcattattcaataaaaagtttct gatccttgtggtcgaacgtttctcaattca
    Mapping_target: C09B8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030903
      WBStrain00030917
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00002146
    Transcript: C09B8.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-304
        CDS_position: ?-301
        Protein_position: ?-101
        Intron_number: 2-3/9
        Exon_number: 1-4/10
      C09B8.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-304
        CDS_position: ?-301
        Protein_position: ?-101
        Intron_number: 2-3/9
        Exon_number: 1-4/10
    Interactor: WBInteraction000051429
      WBInteraction000051430
      WBInteraction000538565
      WBInteraction000538568
      WBInteraction000576762
  Genetics: Interpolated_map_position: X -3.85639
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00040893
        Curator_confirmed: WBPerson237
        Remark: "The ipp-5(lf) mutation alone frequently produced dead embryos with phenotypes distinctly different from the phenotype of acs-1(RNAi)C17ISO embryos (Fig.6B,C)." Paper_evidence: WBPaper00040893
            Curator_confirmed: WBPerson237
      WBPhenotype:0000666 Paper_evidence: WBPaper00005268
        Curator_confirmed: WBPerson625
        Remark: excessive ovulation Paper_evidence: WBPaper00005268
            Curator_confirmed: WBPerson625
        EQ_annotations: GO_term: GO:0030728 PATO:0002051 Paper_evidence: WBPaper00005268
                Curator_confirmed: WBPerson625
      WBPhenotype:0000743 Paper_evidence: WBPaper00046355
        Curator_confirmed: WBPerson51
        Remark: Figure 1I Paper_evidence: WBPaper00046355
            Curator_confirmed: WBPerson51
        EQ_annotations: GO_term: GO:0016246 PATO:0000460 Paper_evidence: WBPaper00046355
                Curator_confirmed: WBPerson51
      WBPhenotype:0001208 Paper_evidence: WBPaper00046355
        Curator_confirmed: WBPerson51
        Remark: Figure 1I Paper_evidence: WBPaper00046355
            Curator_confirmed: WBPerson51
        EQ_annotations: GO_term: GO:0016246 PATO:0000460 Paper_evidence: WBPaper00046355
                Curator_confirmed: WBPerson51
    Phenotype_not_observed: WBPhenotype:0000207 Paper_evidence: WBPaper00028479
        Curator_confirmed: WBPerson2987
        Remark: Figure 6A Paper_evidence: WBPaper00028479
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNG-1 is normal, based on expression analysis using an SNG-1::GFP transgene. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
  Reference: WBPaper00040893
    WBPaper00028886
    WBPaper00028479
    WBPaper00005268
    WBPaper00018092
    WBPaper00046355
  Method: Deletion_allele