WormBase Tree Display for Variation: WBVar00089736
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WBVar00089736 | Evidence | Paper_evidence | WBPaper00032289 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | n765 | ||||||
Other_name | CE15381:p.Pro208LysfsTer16 | |||||||
ZK662.4.2:c.622_812del | ||||||||
ZK662.4.1:c.622_812del | ||||||||
HGVSg | CHROMOSOME_X:g.15727663_15727853del | |||||||
Sequence_details | SMap | S_parent | Sequence | ZK678 | ||||
Flanking_sequences | TCAAATGTCAAGTTTACGAACATTGTGTGT | AAGGTAAATTTAGCGTTTTTAACCTTTATA | ||||||
Mapping_target | ZK678 | |||||||
Type_of_mutation | Insertion | |||||||
Deletion | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain (179) | ||||||||
Laboratory | MT | |||||||
NM | ||||||||
CX | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00003004 | ||||||
WBGene00023498 | ||||||||
WBGene00023497 | ||||||||
Transcript | ZK662.4.1 | VEP_consequence | frameshift_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | ZK662.4.1:c.622_812del | |||||||
HGVSp | CE15381:p.Pro208LysfsTer16 | |||||||
cDNA_position | 628-818 | |||||||
CDS_position | 622-812 | |||||||
Protein_position | 208-271 | |||||||
Exon_number | 4/10 | |||||||
Codon_change | CCAAACGAAGAGATTTGCAAGCTGGTTGAAGAGAGTGCAGTTGTCAAACGATACAACGTTTGCTTCTACAACTACGTTACCCGTTTTGTGGCCGATTTGATGGAAATTGAAGAGTTTTCCAGTGGGCTGACACAATTGCGAACATTTGTTCGTTATATGAAACAAAATTCGGATATGTATAGCAAATTTAGa/a | |||||||
Amino_acid_change | PNEEICKLVEESAVVKRYNVCFYNYVTRFVADLMEIEEFSSGLTQLRTFVRYMKQNSDMYSKFR/X | |||||||
ZK662.4.2 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK662.4.2:c.622_812del | |||||||
HGVSp | CE15381:p.Pro208LysfsTer16 | |||||||
cDNA_position | 634-824 | |||||||
CDS_position | 622-812 | |||||||
Protein_position | 208-271 | |||||||
Exon_number | 4/11 | |||||||
Codon_change | CCAAACGAAGAGATTTGCAAGCTGGTTGAAGAGAGTGCAGTTGTCAAACGATACAACGTTTGCTTCTACAACTACGTTACCCGTTTTGTGGCCGATTTGATGGAAATTGAAGAGTTTTCCAGTGGGCTGACACAATTGCGAACATTTGTTCGTTATATGAAACAAAATTCGGATATGTATAGCAAATTTAGa/a | |||||||
Amino_acid_change | PNEEICKLVEESAVVKRYNVCFYNYVTRFVADLMEIEEFSSGLTQLRTFVRYMKQNSDMYSKFR/X | |||||||
Interactor (64) | ||||||||
Genetics | Interpolated_map_position | X | 22.945 | |||||
Mapping_data | In_2_point | 4457 | ||||||
4458 | ||||||||
7082 | ||||||||
In_multi_point (19) | ||||||||
In_pos_neg_data | 4461 | |||||||
Description | Phenotype (8) | |||||||
Phenotype_not_observed | WBPhenotype:0000698 | Paper_evidence | WBPaper00026863 | |||||
WBPaper00005344 | ||||||||
Curator_confirmed | WBPerson712 | |||||||
WBPerson2987 | ||||||||
Remark | 0% animals (n=24) are aberrant in induction of VPCs as scored by Nomarski optics. | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00026863 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00026863 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference (26) | ||||||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00023498 WBGene00003004 Genomic_neighbourhood | |||||||
Method | Deletion_and_insertion_allele |