WormBase Tree Display for Variation: WBVar00143617
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| WBVar00143617 | Name | Public_name | e937 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Other_name | K04F10.4d.2:c.1971+275_1971+3600del | ||||||||
| K04F10.4h.1:c.1971+275_*310del | |||||||||
| K04F10.4i.1:c.1971+275_1972-438del | |||||||||
| K04F10.4d.1:c.1971+275_1971+3600del | |||||||||
| K04F10.4b.1:c.1971+275_1971+3600del | |||||||||
| K04F10.4j.1:c.1971+275_1972-752del | |||||||||
| K04F10.4c.1:c.1971+275_1971+3600del | |||||||||
| HGVSg | CHROMOSOME_I:g.6345831_6349156del | ||||||||
| Sequence_details | SMap | S_parent | Sequence | K04F10 | |||||
| Flanking_sequences | aaattgaaaaattgaaaaaatcaacaaaat | taatttccctgaatggaatttcaaccaaat | |||||||
| Mapping_target | K04F10 | ||||||||
| Type_of_mutation | Deletion | ||||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain (502) | |||||||||
| Laboratory | CB | ||||||||
| CA | |||||||||
| UP | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00200715 | |||||||
| WBGene00000254 | |||||||||
| Transcript (12) | |||||||||
| Interactor | WBInteraction000537297 | ||||||||
| Genetics | Interpolated_map_position | I | 1.02091 | ||||||
| Mapping_data | In_2_point | 260 | |||||||
| 261 | |||||||||
| 262 | |||||||||
| 5220 | |||||||||
| 6170 | |||||||||
| 6188 | |||||||||
| 6193 | |||||||||
| 6200 | |||||||||
| In_multi_point (15) | |||||||||
| In_pos_neg_data | 509 | ||||||||
| 4020 | |||||||||
| 4026 | |||||||||
| 4035 | |||||||||
| 4040 | |||||||||
| 4047 | |||||||||
| 4054 | |||||||||
| 4061 | |||||||||
| 4065 | |||||||||
| 5317 | |||||||||
| 5360 | |||||||||
| 6196 | |||||||||
| 6313 | |||||||||
| 6357 | |||||||||
| 6373 | |||||||||
| 6403 | |||||||||
| 6432 | |||||||||
| 6450 | |||||||||
| 6465 | |||||||||
| 6471 | |||||||||
| 6478 | |||||||||
| 6485 | |||||||||
| 6490 | |||||||||
| 6497 | |||||||||
| 6505 | |||||||||
| 6521 | |||||||||
| 6527 | |||||||||
| 6536 | |||||||||
| 6550 | |||||||||
| 6562 | |||||||||
| 6594 | |||||||||
| 6601 | |||||||||
| 6606 | |||||||||
| 6612 | |||||||||
| 6624 | |||||||||
| 6642 | |||||||||
| 6658 | |||||||||
| Marked_rearrangement | hT2[bli-4(e937) let-?(h661)] | ||||||||
| hT2[bli-4(e937) let-?(q782) qIs48] | |||||||||
| hT2[bli-4(e937) qIs48] | |||||||||
| hT2[bli-4(e937) unc-29(h1011)] | |||||||||
| hT2[bli-4(e937)] | |||||||||
| Description | Phenotype | WBPhenotype:0000025 | Paper_evidence | WBPaper00001439 | |||||
| WBPaper00005747 | |||||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson2987 | |||||||||
| Remark | adult blistered, especially head; penetrance 90%; unique Class I allele. Easy to score (ES3) in older adults. | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| fully complemented by h754 and s90 | Paper_evidence | WBPaper00001439 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Table 1 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Penetrance | High | 90% | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000351 | Paper_evidence | WBPaper00002829 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | animals arrest during hatching | Paper_evidence | WBPaper00002829 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00002829 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | dpy-5 unc-13; sDp2 | Paper_evidence | WBPaper00002829 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000505 | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Males are not Ram. | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 20C | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | him-5(e1490) | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000961 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Table 1 | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001412 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Table 1 | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001517 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Table 1 | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Reference (30) | |||||||||
| Remark | e937 is a 3325bp deletion | Paper_evidence | WBPaper00028453 | ||||||
| Allele sequenced by Andrew Chisholm | |||||||||
| Variation stub/paper connection generated from the May 2021 NN VFP dataset. | |||||||||
| Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||||||
| Method | Deletion_allele |
