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 | WBPhenotype:0000050 | Paper_evidence | WBPaper00025190 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00025190 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000070 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | male tail abnormal | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000342 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | bursa small | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000583 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | slightly dumpy | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00000031 | |||||||
WBPaper00001474 | |||||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson712 | |||||||||
Remark | irregular, sometimes rippling movement, especially in reverse | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Unc | Paper_evidence | WBPaper00001474 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | slightly slow | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES2_Difficult_to_score (2) | ||||||||
WBPhenotype:0001226 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | variable abnormalities in VD and DD commissures | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBbt:0005270 | PATO:0000460 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001364 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | fan reduced | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001492 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 19% of embryos Nob | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | 19% | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001509 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | rays variably absent | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_not_observed (2) | |||||||||
Reference (12) | |||||||||
Method | Substitution_allele |