WormBase Tree Display for Variation: WBVar00143944

WBVar00143944 Name: Public_name: e1364
    Other_name: C05D2.1e.1:c.583_613+181del
      C05D2.1c.3:c.127_157+181del
      C05D2.1a.1:c.583_613+181del
      C05D2.1d.1:c.583_613+181del
      C05D2.1c.1:c.127_157+181del
      C05D2.1c.2:c.127_157+181del
    HGVSg: CHROMOSOME_III:g.5626842_5627053del
  Sequence_details: SMap: S_parent: Sequence: C05D2
    Flanking_sequences: tcgaccaacaattgcaacatgccggatctc gcgttggggctagaggctagggagaaattg
    Mapping_target: C05D2
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004308
      WBStrain00004376
      WBStrain00004381
      WBStrain00030681
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00022910
      WBGene00000900
    Transcript: C05D2.1e.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1e.1:c.583_613+181del
        cDNA_position: 590-?
        CDS_position: 583-?
        Protein_position: 195-?
        Intron_number: 6/11
        Exon_number: 6/12
      C05D2.1d.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1d.1:c.583_613+181del
        cDNA_position: 583-?
        CDS_position: 583-?
        Protein_position: 195-?
        Intron_number: 5/9
        Exon_number: 5/10
      C05D2.1c.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1c.1:c.127_157+181del
        cDNA_position: 532-?
        CDS_position: 127-?
        Protein_position: 43-?
        Intron_number: 6/12
        Exon_number: 6/13
      C05D2.1c.2 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1c.2:c.127_157+181del
        cDNA_position: 444-?
        CDS_position: 127-?
        Protein_position: 43-?
        Intron_number: 5/11
        Exon_number: 5/12
      C05D2.11 VEP_consequence: non_coding_transcript_exon_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-110
        Exon_number: 1/1
      C05D2.1c.3 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1c.3:c.127_157+181del
        cDNA_position: 308-?
        CDS_position: 127-?
        Protein_position: 43-?
        Intron_number: 3/8
        Exon_number: 3/9
      C05D2.1a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C05D2.1a.1:c.583_613+181del
        cDNA_position: 583-?
        CDS_position: 583-?
        Protein_position: 195-?
        Intron_number: 5/11
        Exon_number: 5/12
    Interactor: WBInteraction000052154
      WBInteraction000052361
      WBInteraction000052368
      WBInteraction000052447
      WBInteraction000052448
      WBInteraction000500851
      WBInteraction000500861
      WBInteraction000501799
  Genetics: Interpolated_map_position: III -1.46806
    Mapping_data: In_2_point: 276
        277
      In_multi_point: 326
        388
        869
        875
        1112
        1722
      In_pos_neg_data: 805
        809
  Description: Phenotype: WBPhenotype:0000012 Paper_evidence: WBPaper00000316
          WBPaper00000502
          WBPaper00028386
        Curator_confirmed: WBPerson712
        Remark: Recovered by selection for resistance to 1% SDS. Paper_evidence: WBPaper00000502
            Curator_confirmed: WBPerson712
          Animals formed less than 10% dauer at 16C. Paper_evidence: WBPaper00028386
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00000316
            WBPaper00000502
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00000316
                WBPaper00000502
                WBPaper00028386
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 16 Paper_evidence: WBPaper00028386
              Curator_confirmed: WBPerson712
          Genotype: unc-4(e120) Paper_evidence: WBPaper00028386
              Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Paper_evidence: WBPaper00002374
        Curator_confirmed: WBPerson551
      WBPhenotype:0000297 Paper_evidence: WBPaper00002374
        Curator_confirmed: WBPerson551
        Remark: Table 1 Paper_evidence: WBPaper00002374
            Curator_confirmed: WBPerson551
      WBPhenotype:0001068 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: variable Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 5 mg/ml serotonin Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001183 Paper_evidence: WBPaper00053184
        Curator_confirmed: WBPerson12433
      WBPhenotype:0001340 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: variable Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Acute CO2 avoidance is reduced Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000706 Paper_evidence: WBPaper00025094
        Curator_confirmed: WBPerson2021
        Remark: Mutations did not result in Glo phenotypes Paper_evidence: WBPaper00025094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with LysoTracker Red and acridine orange Paper_evidence: WBPaper00025094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC uptake is normal. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
  Reference (15)
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00000900 Coding_exon Paper_evidence: WBPaper00023888
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00022910 Noncoding_exon Inferred_automatically map_allele.pl
  Method: Deletion_allele