WormBase Tree Display for Gene: WBGene00000962
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WBGene00000962 | Evidence | CGC_data_submission | |||||
---|---|---|---|---|---|---|---|
SMap | S_parent | Sequence | T21E12 | ||||
Identity (6) | |||||||
Gene_info (13) | |||||||
Disease_info | Experimental_model | DOID:1826 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 24 Aug 2021 00:00:00 | ||||||
DOID:0050453 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||||
Accession_evidence | OMIM | 607432 | |||||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 17 Apr 2013 00:00:00 | ||||||
Potential_model | DOID:0070043 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | |||
DOID:10652 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||
DOID:0070351 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||
DOID:0110175 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||
Disease_relevance | In humans, mutations in the LIS1 gene (Platelet activating factor acetylhydrolase, isoform 1B, alpha subunit; PAFAH1B1) and the LIS1 pathway, are implicated in Lissencephaly, a developmental abnormality associated with a failure of neuronal migration in the cerebral cortex, leading to mental retardation and epilepsy; human NDE1 and NDEL1, are effectors of LIS1; the elegans genetic model for epileptic siezures consists of lis-1 mutants that are responsive to the common seizure inducer pentylenetetrazole (PTZ) and diplay a distinct convulsive phenotype; studies in the worm show that dhc-1/dynein heavy chain (orthologous to human DYNC1H1), is a LIS1 pathway component and worms depleted for LIS1 pathway components via RNA interference, NUD-1, NUD-2, DHC-1, CDK-5, and CDKA-1, also exhibited significant convulsions following PTZ treatment; further nud-1 (orthologous to human NUDC), nud-2/NDE1 and cdk-5 show significant enhancement in convulsions in a lis-1 heterozygous background when compared with the wild-type background; these animals are also less likely to recover when PTZ treatment is removed, when compared to wild-type; these studies show that while knocking down target genes (lis-1, cdk-5, and cdka-1 that function in neuronal migration), and their interacting proteins like nud-1, nud-2 and dhc-1, does not yield spontaneous convulsions in C. elegans, further alterations in the neural environment through the application of PTZ serve to pass a critical threshold within these animals. | Homo sapiens | Curator_confirmed | WBPerson324 | |||
Models_disease_in_annotation | WBDOannot00000150 | ||||||
WBDOannot00001012 | |||||||
Molecular_info | Corresponding_CDS | T21E12.4a | |||||
T21E12.4b | |||||||
Corresponding_transcript | T21E12.4a.1 | ||||||
T21E12.4b.1 | |||||||
Other_sequence (122) | |||||||
Associated_feature | WBsf643215 | ||||||
WBsf656205 | |||||||
WBsf656206 | |||||||
WBsf656207 | |||||||
WBsf656208 | |||||||
WBsf983394 | |||||||
WBsf217528 | |||||||
WBsf217529 | |||||||
Experimental_info | RNAi_result (43) | ||||||
Expr_pattern (19) | |||||||
Drives_construct | WBCnstr00003093 | ||||||
WBCnstr00007434 | |||||||
WBCnstr00008880 | |||||||
WBCnstr00013402 | |||||||
WBCnstr00037176 | |||||||
WBCnstr00042469 | |||||||
Construct_product | WBCnstr00007434 | ||||||
WBCnstr00008880 | |||||||
WBCnstr00013402 | |||||||
WBCnstr00037176 | |||||||
WBCnstr00039347 | |||||||
WBCnstr00042469 | |||||||
Antibody | WBAntibody00000242 | ||||||
WBAntibody00000917 | |||||||
WBAntibody00002792 | |||||||
WBAntibody00002860 | |||||||
Microarray_results (20) | |||||||
Expression_cluster (137) | |||||||
Interaction (292) | |||||||
WBProcess | WBbiopr:00000017 | ||||||
Map_info | Map | I | Position | -1.31043 | Error | 0.007943 | |
Well_ordered | |||||||
Positive | Positive_clone | T21E12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||
Mapping_data | 2_point | 2523 | |||||
Multi_point | 1007 | ||||||
1758 | |||||||
1759 | |||||||
1760 | |||||||
1761 | |||||||
1762 | |||||||
1763 | |||||||
3862 | |||||||
Pos_neg_data (15) | |||||||
Reference (130) | |||||||
Remark | Sequence connection from [Schmidt D, Strome S] | ||||||
Previous connection of genomic_sequence to dhc-14 was a typo [030225 ck1] | |||||||
Method | Gene |