WormBase Tree Display for Variation: WBVar00092075
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| WBVar00092075 | Evidence | Paper_evidence | WBPaper00030973 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | ok795 | |||||||
| HGVSg | CHROMOSOME_X:g.14182876_14185025del | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C37E2 | |||||
| Flanking_sequences | tttgaaagttttcaatatcttttgacacta | attctatttttaatttgaaatgtgtcttaa | |||||||
| Mapping_target | C37E2 | ||||||||
| Type_of_mutation | Deletion | ||||||||
| PCR_product | ok795_external | ||||||||
| ok795_internal | |||||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00022465 | ||||||||
| WBStrain00035889 | |||||||||
| Laboratory | RB | ||||||||
| Person | WBPerson46 | ||||||||
| KO_consortium_allele | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000457 | |||||||
| Transcript | C37E2.4.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant | ||||||
| VEP_impact | HIGH | ||||||||
| Intron_number | 3-7/8 | ||||||||
| Exon_number | 4-9/9 | ||||||||
| Interactor | WBInteraction000520809 | ||||||||
| WBInteraction000525161 | |||||||||
| WBInteraction000534899 | |||||||||
| WBInteraction000534900 | |||||||||
| Isolation | Mutagen | UV/TMP | |||||||
| Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00030973 | |||||
| WBPaper00046510 | |||||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPerson3733 | |||||||||
| Recessive | Paper_evidence | WBPaper00030973 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00030973 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0000054 | Paper_evidence | WBPaper00046510 | |||||||
| Curator_confirmed | WBPerson3733 | ||||||||
| WBPhenotype:0001660 | Paper_evidence | WBPaper00044621 | |||||||
| Curator_confirmed | WBPerson6538 | ||||||||
| Remark | Fig 3B, C. Loss of ASE asymmetry | Paper_evidence | WBPaper00044621 | ||||||
| Curator_confirmed | WBPerson6538 | ||||||||
| Penetrance | High | Paper_evidence | WBPaper00044621 | ||||||
| Curator_confirmed | WBPerson6538 | ||||||||
| Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00044621 | ||||||
| Curator_confirmed | WBPerson6538 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005663 | PATO:0000460 | Paper_evidence | WBPaper00044621 | ||||
| Curator_confirmed | WBPerson6538 | ||||||||
| Reference | WBPaper00030973 | ||||||||
| WBPaper00044621 | |||||||||
| WBPaper00046510 | |||||||||
| Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||||||
| Method | KO_consortium_allele |
