WormBase Tree Display for Variation: WBVar00143019
expand all nodes | collapse all nodes | view schema
WBVar00143019 | Evidence | Paper_evidence | WBPaper00005152 | ||||||
---|---|---|---|---|---|---|---|---|---|
WBPaper00005325 | |||||||||
Name | Public_name | e185 | |||||||
Other_name | CE54061:p.Cys185Tyr | ||||||||
F48E8.1a.1:c.554G>A | |||||||||
F48E8.1c.1:c.554G>A | |||||||||
CE01953:p.Cys185Tyr | |||||||||
F48E8.1b.1:c.554G>A | |||||||||
CE29046:p.Cys185Tyr | |||||||||
HGVSg | CHROMOSOME_III:g.5476405G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F48E8 | |||||
Flanking_sequences | ttgtctgggcaaagacgaatctcgtcggat | cggcttctcccgttgccgtgacgttcaggg | |||||||
Mapping_target | F48E8 | ||||||||
Type_of_mutation | Substitution | g | a | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin (4) | |||||||||
Affects | Gene | WBGene00003055 | |||||||
Transcript | F48E8.1b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 1 | probably_damaging | |||||||
HGVSc | F48E8.1b.1:c.554G>A | ||||||||
HGVSp | CE29046:p.Cys185Tyr | ||||||||
cDNA_position | 599 | ||||||||
CDS_position | 554 | ||||||||
Protein_position | 185 | ||||||||
Exon_number | 6/8 | ||||||||
Codon_change | tGc/tAc | ||||||||
Amino_acid_change | C/Y | ||||||||
F48E8.1c.1 (12) | |||||||||
F48E8.1a.1 (12) | |||||||||
Interactor | WBInteraction000009116 | ||||||||
WBInteraction000503035 | |||||||||
WBInteraction000537301 | |||||||||
Genetics | Interpolated_map_position | III | -1.62777 | ||||||
Mapping_data | In_2_point | 276 | |||||||
579 | |||||||||
2725 | |||||||||
3796 | |||||||||
3797 | |||||||||
5516 | |||||||||
6014 | |||||||||
7160 | |||||||||
In_multi_point (62) | |||||||||
In_pos_neg_data | 803 | ||||||||
1590 | |||||||||
Description | Phenotype (7) | ||||||||
Phenotype_not_observed | WBPhenotype:0000505 | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Males are not Ram. | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 20C | Paper_evidence | WBPaper00001328 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Genotype | him-5(e1490) | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001184 | Paper_evidence | WBPaper00032966 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Abnormally sized mutants did not display enhanced fat accumulation | Paper_evidence | WBPaper00032966 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | Nile Red staining | Paper_evidence | WBPaper00032966 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference (12) | |||||||||
Remark | Variation stub/paper connection generated from the May 2021 NN VFP dataset. | ||||||||
Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||||||
Method | Substitution_allele |