WormBase Tree Display for Variation: WBVar00143365
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WBVar00143365 | Evidence | Paper_evidence | WBPaper00005629 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e644 | ||||||
Other_name (20) | ||||||||
HGVSg | CHROMOSOME_V:g.4505497G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | T28F12 | ||||
Flanking_sequences | caaaggaggcgattaccaaattccgcgcgt | gttatttcacaatttgacggtaagggtgca | ||||||
Mapping_target | T28F12 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005629 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00004189 | |||||||
WBStrain00004365 | ||||||||
WBStrain00034029 | ||||||||
WBStrain00034031 | ||||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006796 | ||||||
Transcript | T28F12.2d.7 | VEP_consequence | intron_variant | |||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.7:c.-111-332G>A | |||||||
Intron_number | 3/7 | |||||||
T28F12.2a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T28F12.2a.1:c.1229G>A | |||||||
HGVSp | CE21219:p.Trp410Ter | |||||||
cDNA_position | 1233 | |||||||
CDS_position | 1229 | |||||||
Protein_position | 410 | |||||||
Exon_number | 8/12 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
T28F12.2b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T28F12.2b.1:c.1118G>A | |||||||
HGVSp | CE21220:p.Trp373Ter | |||||||
cDNA_position | 1584 | |||||||
CDS_position | 1118 | |||||||
Protein_position | 373 | |||||||
Exon_number | 8/12 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
T28F12.2d.2 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.2:c.-131G>A | |||||||
cDNA_position | 1241 | |||||||
Exon_number | 7/12 | |||||||
T28F12.2d.3 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.3:c.-131G>A | |||||||
cDNA_position | 1593 | |||||||
Exon_number | 7/12 | |||||||
T28F12.2d.8 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.8:c.-111-332G>A | |||||||
Intron_number | 2/6 | |||||||
T28F12.2c.2 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2c.2:c.-317G>A | |||||||
cDNA_position | 1426 | |||||||
Exon_number | 7/11 | |||||||
T28F12.2d.9 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.9:c.-131G>A | |||||||
cDNA_position | 738 | |||||||
Exon_number | 1/6 | |||||||
T28F12.2h.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2h.1:c.1015-332G>A | |||||||
Intron_number | 6/8 | |||||||
T28F12.2d.4 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.4:c.-111-332G>A | |||||||
Intron_number | 7/11 | |||||||
T28F12.2e.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2e.1:c.1126-332G>A | |||||||
Intron_number | 7/9 | |||||||
T28F12.2d.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.1:c.-111-332G>A | |||||||
Intron_number | 7/11 | |||||||
T28F12.2c.1 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2c.1:c.-317G>A | |||||||
cDNA_position | 1611 | |||||||
Exon_number | 7/11 | |||||||
T28F12.2d.5 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.5:c.-131G>A | |||||||
cDNA_position | 1113 | |||||||
Exon_number | 6/11 | |||||||
T28F12.2d.6 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2d.6:c.-131G>A | |||||||
cDNA_position | 777 | |||||||
Exon_number | 4/9 | |||||||
T28F12.2g.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T28F12.2g.1:c.1007G>A | |||||||
HGVSp | CE37795:p.Trp336Ter | |||||||
cDNA_position | 1007 | |||||||
CDS_position | 1007 | |||||||
Protein_position | 336 | |||||||
Exon_number | 6/9 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
T28F12.2f.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T28F12.2f.1:c.1237-332G>A | |||||||
Intron_number | 8/10 | |||||||
Interactor | WBInteraction000007722 | |||||||
WBInteraction000051964 | ||||||||
WBInteraction000052185 | ||||||||
WBInteraction000052340 | ||||||||
WBInteraction000052341 | ||||||||
WBInteraction000501054 | ||||||||
WBInteraction000501055 | ||||||||
WBInteraction000501056 | ||||||||
Genetics | Interpolated_map_position | V | -5.18024 | |||||
Mapping_data | In_2_point | 125 | ||||||
In_multi_point | 143 | |||||||
1524 | ||||||||
3277 | ||||||||
In_pos_neg_data | 846 | |||||||
2870 | ||||||||
2871 | ||||||||
2872 | ||||||||
Description | Phenotype (10) | |||||||
Phenotype_not_observed | WBPhenotype:0000062 | Paper_evidence | WBPaper00001474 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | viable Unc allele | Paper_evidence | WBPaper00001474 | |||||
Curator_confirmed | WBPerson712 | |||||||
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 | |||||||
Reference | WBPaper00001474 | |||||||
WBPaper00000031 | ||||||||
WBPaper00006052 | ||||||||
WBPaper00005629 | ||||||||
WBPaper00016871 | ||||||||
WBPaper00018977 | ||||||||
WBPaper00025190 | ||||||||
WBPaper00016473 | ||||||||
WBPaper00015106 | ||||||||
WBPaper00010953 | ||||||||
WBPaper00015436 | ||||||||
WBPaper00022123 | ||||||||
Method | Substitution_allele |