WormBase Tree Display for Variation: WBVar00143932
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WBVar00143932 | Evidence | Paper_evidence | WBPaper00005591 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e1342 | ||||||
Other_name | W02D3.3.3:c.908_909delinsAA | |||||||
CE31080:p.Trp303Ter | ||||||||
W02D3.3.1:c.908_909delinsAA | ||||||||
W02D3.3.2:c.908_909delinsAA | ||||||||
HGVSg | CHROMOSOME_I:g.6727021_6727022delinsAA | |||||||
Sequence_details | SMap | S_parent | Sequence | W02D3 | ||||
Flanking_sequences | ctgctcatccagttattcatgaatctgcat | cattatactcatccagaaaatcaaaatata | ||||||
Mapping_target | W02D3 | |||||||
Type_of_mutation | Substitution | gg | rr | Paper_evidence | WBPaper00005591 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00004340 | |||||||
WBStrain00004383 | ||||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00003170 | ||||||
Transcript | W02D3.3.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | W02D3.3.1:c.908_909delinsAA | |||||||
HGVSp | CE31080:p.Trp303Ter | |||||||
cDNA_position | 911-912 | |||||||
CDS_position | 908-909 | |||||||
Protein_position | 303 | |||||||
Exon_number | 7/9 | |||||||
Codon_change | tGG/tAA | |||||||
Amino_acid_change | W/* | |||||||
W02D3.3.3 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | W02D3.3.3:c.908_909delinsAA | |||||||
HGVSp | CE31080:p.Trp303Ter | |||||||
cDNA_position | 984-985 | |||||||
CDS_position | 908-909 | |||||||
Protein_position | 303 | |||||||
Exon_number | 8/10 | |||||||
Codon_change | tGG/tAA | |||||||
Amino_acid_change | W/* | |||||||
W02D3.3.2 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | W02D3.3.2:c.908_909delinsAA | |||||||
HGVSp | CE31080:p.Trp303Ter | |||||||
cDNA_position | 991-992 | |||||||
CDS_position | 908-909 | |||||||
Protein_position | 303 | |||||||
Exon_number | 8/10 | |||||||
Codon_change | tGG/tAA | |||||||
Amino_acid_change | W/* | |||||||
Interactor (8) | ||||||||
Genetics | Interpolated_map_position | I | 1.29964 | |||||
Mapping_data | In_2_point | 29 | ||||||
In_multi_point | 33 | |||||||
420 | ||||||||
964 | ||||||||
Description | Phenotype | WBPhenotype:0000456 | Paper_evidence | WBPaper00000502 | ||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | touch insensitive | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Recessive | Paper_evidence | WBPaper00000502 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | lethargic | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000679 | Paper_evidence | WBPaper00030928 | ||||||
Curator_confirmed | WBPerson48753 | |||||||
Remark | DAF-16::GFP nuclear accumulation does not occur as a result of 100G gravitational force as in control worms (Figure 7a) | Paper_evidence | WBPaper00030928 | |||||
Curator_confirmed | WBPerson48753 | |||||||
WBPhenotype:0002592 | Paper_evidence | WBPaper00030928 | ||||||
Curator_confirmed | WBPerson48753 | |||||||
Remark | DAF-16::GFP nuclear accumulation does not occur as a result of 100G gravitational force as in control worms (Figure 7a) | Paper_evidence | WBPaper00030928 | |||||
Curator_confirmed | WBPerson48753 | |||||||
WBPhenotype:0002606 | Paper_evidence | WBPaper00041673 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Remark (2) | ||||||||
Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00041673 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Phenotype_assay | Genotype | [PhspHBx; Psur-5::SUR-5::GFP] | Paper_evidence | WBPaper00041673 | ||||
Curator_confirmed | WBPerson2987 | |||||||
smIs98 [Pmec-3::GFP; Pmec-7::HBx] | Paper_evidence | WBPaper00041673 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Reference | WBPaper00022049 | |||||||
WBPaper00000502 | ||||||||
WBPaper00015299 | ||||||||
WBPaper00011707 | ||||||||
WBPaper00030928 | ||||||||
WBPaper00041673 | ||||||||
Remark (2) | ||||||||
Method | Substitution_allele |