WormBase Tree Display for Variation: WBVar00091283
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WBVar00091283 | Evidence | Paper_evidence | WBPaper00035166 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | nj48 | |||||||
Other_name | C18F3.2b.1:c.598-368_742+55del | ||||||||
C18F3.2c.1:c.598-368_742+55del | |||||||||
HGVSg | CHROMOSOME_IV:g.8066849_8067416del | ||||||||
Sequence_details | SMap | S_parent | Sequence | C18F3 | |||||
Flanking_sequences | acatagaaatacacacaaatacgagtgctg | ttttaattattccaaaaaaaaatccagaca | |||||||
Mapping_target | C18F3 | ||||||||
Type_of_mutation | Deletion | ||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00021998 | ||||||||
Laboratory | IK | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00004732 | |||||||
Transcript | C18F3.2a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | ||||||||
Intron_number | 2-3/15 | ||||||||
Exon_number | 1-3/16 | ||||||||
C18F3.2c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C18F3.2c.1:c.598-368_742+55del | ||||||||
Intron_number | 5-6/18 | ||||||||
Exon_number | 6/19 | ||||||||
C18F3.2b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C18F3.2b.1:c.598-368_742+55del | ||||||||
Intron_number | 5-6/18 | ||||||||
Exon_number | 6/19 | ||||||||
C18F3.2d.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
Intron_number | 1-2/13 | ||||||||
Exon_number | 1-2/14 | ||||||||
Interactor | WBInteraction000524604 | ||||||||
Genetics | Interpolated_map_position | IV | 3.59085 | ||||||
Description | Phenotype | WBPhenotype:0000632 | Paper_evidence | WBPaper00053043 | |||||
WBPaper00056066 | |||||||||
Curator_confirmed | WBPerson35337 | ||||||||
WBPerson18979 | |||||||||
EQ_annotations | GO_term | GO:0030424 | PATO:0000460 | Paper_evidence | WBPaper00056066 | ||||
Curator_confirmed | WBPerson18979 | ||||||||
WBPhenotype:0000882 | Paper_evidence | WBPaper00056066 | |||||||
WBPaper00044291 | |||||||||
WBPaper00055911 | |||||||||
Curator_confirmed | WBPerson18979 | ||||||||
WBPerson14810 | |||||||||
Remark | Posterior PVD 1° dendrite branch underdeveloped | Paper_evidence | WBPaper00056066 | ||||||
Curator_confirmed | WBPerson18979 | ||||||||
EQ_annotations | GO_term | GO:0044307 | PATO:0001501 | Paper_evidence | WBPaper00056066 | ||||
Curator_confirmed | WBPerson18979 | ||||||||
GO:0016358 | PATO:0000460 | Paper_evidence | WBPaper00044291 | ||||||
Curator_confirmed | WBPerson18979 | ||||||||
WBPhenotype:0000905 | Paper_evidence | WBPaper00031092 | |||||||
Curator_confirmed | WBPerson1725 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0003679 | PATO:0000460 | Paper_evidence | WBPaper00031092 | ||||
Curator_confirmed | WBPerson1725 | ||||||||
WBPhenotype:0001333 | Paper_evidence | WBPaper00031092 | |||||||
Curator_confirmed | WBPerson1725 | ||||||||
EQ_annotations | GO_term | GO:0043025 | PATO:0000460 | Paper_evidence | WBPaper00031092 | ||||
Curator_confirmed | WBPerson1725 | ||||||||
WBPhenotype:0001503 | Paper_evidence | WBPaper00035166 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Neuroanatomical analysis of ventral nerve cord architecture in these mutants demonstrate a post-developemental axon flip-over phenotype involving PVQL axons. | Paper_evidence | WBPaper00035166 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0004076 | PATO:0000460 | Paper_evidence | WBPaper00035166 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00035166 | ||||||||
WBPaper00031092 | |||||||||
WBPaper00025149 | |||||||||
WBPaper00044291 | |||||||||
WBPaper00049508 | |||||||||
WBPaper00053043 | |||||||||
WBPaper00055911 | |||||||||
WBPaper00056066 | |||||||||
Method | Deletion_allele |