WormBase Tree Display for Variation: WBVar00091572
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WBVar00091572 | Evidence | Person_evidence | WBPerson1705 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ok273 | |||||||
Other_name | Y34B4A.8c.1:c.80-700_139+303delinsAAAG | ||||||||
Y34B4A.8e.1:c.80-700_139+303delinsAAAG | |||||||||
Y34B4A.8a.1:c.-65-700_-6+303delinsAAAG | |||||||||
Y34B4A.3.1:c.484+23_833+32delinsCTTT | |||||||||
Y34B4A.8b.2:c.-1293-700_-931delinsAAAG | |||||||||
HGVSg | CHROMOSOME_X:g.5276213_5277275delinsCTTT | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y34B4A | |||||
Flanking_sequences | gttagtttgcaaaactttattt | gcggtttaagacttttaatga | |||||||
Mapping_target | Y34B4A | ||||||||
Type_of_mutation | Insertion | cttt | |||||||
Deletion | |||||||||
PCR_product | ok272_external | ||||||||
ok272_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00029319 | ||||||||
Laboratory | RB | ||||||||
Person | WBPerson46 | ||||||||
KO_consortium_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002031 | |||||||
WBGene00021324 | |||||||||
Transcript | Y34B4A.8g.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | ||||||||
Intron_number | 1/13 | ||||||||
Exon_number | 1/14 | ||||||||
Y34B4A.8c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y34B4A.8c.1:c.80-700_139+303delinsAAAG | ||||||||
Intron_number | 2-3/16 | ||||||||
Exon_number | 3/17 | ||||||||
Y34B4A.8e.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y34B4A.8e.1:c.80-700_139+303delinsAAAG | ||||||||
Intron_number | 2-3/15 | ||||||||
Exon_number | 3/16 | ||||||||
Y34B4A.3.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y34B4A.3.1:c.484+23_833+32delinsCTTT | ||||||||
Intron_number | 4-6/8 | ||||||||
Exon_number | 5-6/9 | ||||||||
Y34B4A.8b.2 | VEP_consequence | splice_acceptor_variant,5_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y34B4A.8b.2:c.-1293-700_-931delinsAAAG | ||||||||
cDNA_position | ?-718 | ||||||||
Intron_number | 1/15 | ||||||||
Exon_number | 2/16 | ||||||||
Y34B4A.8a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,5_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y34B4A.8a.1:c.-65-700_-6+303delinsAAAG | ||||||||
Intron_number | 1-2/16 | ||||||||
Exon_number | 2/17 | ||||||||
Y34B4A.8f.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
Intron_number | 1/13 | ||||||||
Exon_number | 1/14 | ||||||||
Y34B4A.8b.3 | VEP_consequence | splice_donor_variant,5_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
Intron_number | 1/15 | ||||||||
Exon_number | 1/16 | ||||||||
Interactor | WBInteraction000052313 | ||||||||
WBInteraction000524034 | |||||||||
WBInteraction000524035 | |||||||||
Genetics | Mapping_data | In_multi_point | 4422 | ||||||
Description | Phenotype | WBPhenotype:0000180 | Person_evidence | WBPerson1705 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Abnormalities at midline. | Person_evidence | WBPerson1705 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Incomplete | Person_evidence | WBPerson1705 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Recessive | Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Variation_effect | Null | Person_evidence | WBPerson1705 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000229 | Paper_evidence | WBPaper00029002 | |||||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000384 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Defects in HSN axon morphology such that one HSN axon inappropriately projects contralaterally | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | mgIs71 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001761 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Midline crossover defects of PVQL and PVQR as well as PVPL and PVPR axons, with either contralateral analog inappropriately crossing the midline | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006976 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0006832 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oyIs14, hdIs26 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001767 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | The midline choice (where the axons turn at the midline either to the left or right) is affected. | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed (14) | |||||||||
Reference | WBPaper00040941 | ||||||||
WBPaper00032413 | |||||||||
WBPaper00029002 | |||||||||
WBPaper00035166 | |||||||||
WBPaper00006471 | |||||||||
Remark | Presumptive molecular null allele. 1064 nt are deleted following position 39378 in Y34B4A (ACC# AC024755) | Person_evidence | WBPerson1705 | ||||||
Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | |||||||
Method | KO_consortium_allele |