WormBase Tree Display for Gene: WBGene00001131
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WBGene00001131 | SMap | S_parent | Sequence | CHROMOSOME_I | |||||
---|---|---|---|---|---|---|---|---|---|
Identity | Version | 1 | |||||||
Name (5) | |||||||||
DB_info | Database (12) | ||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 07 Apr 2004 11:29:23 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
Status | Live | ||||||||
Gene_info (9) | |||||||||
Disease_info | Experimental_model | DOID:11723 | Homo sapiens | Paper_evidence | WBPaper00003867 | ||||
WBPaper00003395 | |||||||||
WBPaper00044415 | |||||||||
WBPaper00035094 | |||||||||
Accession_evidence | OMIM | 300376 | |||||||
310200 | |||||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 22 May 2017 00:00:00 | ||||||||
Potential_model | DOID:11723 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | |||||
DOID:0081164 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
DOID:1561 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
DOID:2394 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12635) | ||||||
DOID:0110461 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
DOID:12930 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
DOID:1059 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
DOID:9883 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
Disease_relevance | Mutations in human dystrophin are associated with the Duchenne and Becker types of muscular dystrophy, that affect skeletal muscles used for movement, and heart (cardiac) muscle; in C. elegans, loss-of-function mutants in dys-1 (cx18,cx26,cx35,cx40), the ortholog of human dystrophin/utrophin, display locomotion defects like hyperactivity and hypercontraction, and are hypersensitive to acetylcholine and to the acetylcholinesterase inhibitor, aldicarb, suggesting that dys-1 plays a role in the muscle response to acetylcholine; a chimeric transgene in which the C-terminal end of the elegans DYS-1 protein is replaced by the human dystrophin sequence is able to partly suppress the phenotype of the dys-1 mutants; however, the genetic model for progressive myopathy in C. elegans consists of the dys-1 mutation combined with a mutation in hlh-1, the MyoD ortholog (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; use of this model has identified several genes, that play a role in muscle degeneration, eg., dyc-1/nitric oxide synthase (nNOS)-binding protein CAPON. | Homo sapiens | Paper_evidence | WBPaper00003867 | |||||
Accession_evidence | OMIM | 300377 | |||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 17 May 2017 00:00:00 | ||||||||
Models_disease_asserted (21) | |||||||||
Molecular_info | Corresponding_CDS | F15D3.1a | |||||||
F15D3.1b | |||||||||
F15D3.1c | |||||||||
F15D3.1d | |||||||||
F15D3.1e | |||||||||
F15D3.1f | |||||||||
F15D3.1g | |||||||||
F15D3.1h | |||||||||
F15D3.1i | |||||||||
F15D3.1j | |||||||||
Corresponding_CDS_history | F15D3.1a:wp47 | ||||||||
Corresponding_transcript | F15D3.1a.1 | ||||||||
F15D3.1b.1 | |||||||||
F15D3.1c.1 | |||||||||
F15D3.1d.1 | |||||||||
F15D3.1e.1 | |||||||||
F15D3.1f.1 | |||||||||
F15D3.1g.1 | |||||||||
F15D3.1h.1 | |||||||||
F15D3.1i.1 | |||||||||
F15D3.1j.1 | |||||||||
Other_sequence (44) | |||||||||
Associated_feature (19) | |||||||||
Experimental_info | RNAi_result (13) | ||||||||
Expr_pattern (12) | |||||||||
Drives_construct | WBCnstr00003169 | ||||||||
WBCnstr00010181 | |||||||||
Construct_product | WBCnstr00007078 | ||||||||
WBCnstr00008412 | |||||||||
WBCnstr00010181 | |||||||||
WBCnstr00011497 | |||||||||
Regulate_expr_cluster | WBPaper00028474:dys-1_downregulated | ||||||||
WBPaper00028474:dys-1_upregulated | |||||||||
Antibody | WBAntibody00003001 | ||||||||
Microarray_results (34) | |||||||||
Expression_cluster (142) | |||||||||
Interaction (61) | |||||||||
Map_info | Map | I | Position | 9.11232 | |||||
Positive | Positive_clone | F15D3 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Mapping_data | Multi_point | 4272 | |||||||
5386 | |||||||||
Pseudo_map_position | |||||||||
Reference (86) | |||||||||
Remark | Sequence connection from [Segalat L] | ||||||||
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | ||||||||
[210510 skd] Modified Map position as it was a reverse physical that could not be fixed by automated methods. (9.05343) | |||||||||
Method | Gene |