WormBase Tree Display for Gene: WBGene00000950
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| WBGene00000950 | SMap | S_parent | Sequence | CHROMOSOME_X | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | deg-1 | Person_evidence | WBPerson95 | |||||
| Sequence_name | C47C12.6 | ||||||||
| Molecular_name (22) | |||||||||
| Other_name | CELE_C47C12.6 | Accession_evidence | NDB | BX284606 | |||||
| Public_name | deg-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:22 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 20 May 2019 15:21:47 | WBPerson4025 | Event | Acquires_merge | WBGene00016736 | ||||
| Acquires_merge | WBGene00016736 | ||||||||
| Status | Live | ||||||||
| Gene_info (12) | |||||||||
| Disease_info | Experimental_model | DOID:1289 | Homo sapiens | Paper_evidence | WBPaper00001299 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
| DOID:14452 | Homo sapiens | Paper_evidence | WBPaper00002711 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
| Potential_model | DOID:0080526 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600) | |||||
| DOID:0050477 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600,HGNC:10602) | ||||||
| DOID:4479 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10600,HGNC:10602) | ||||||
| DOID:0080528 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10602) | ||||||
| Disease_relevance | C. elegans mec-4 and deg-1 genes encode proteins, called degenerins, that are similar to the subunits of the human amiloride-sensitive epithelial sodium-channels; death-inducing substitutions in the gain-of-function mutant deg-1, e1611 and u231, may hyperactivate the channels, resulting in increased or altered ion flow and/osmotic imbalance and consequent neuron death; similarities between the degenerin-induced deaths and the early pathology of of neurons in human dominant myotonias, excitotoxicity, and epilepsy suggest similar mechanisms; studies with the elegans mutations show that the abnormalities infolding of the plasma membrane whorls, cytoplasmic vacuoles, cell swelling, chromatin aggregates and nuclear invaginations; mitochondria and golgi are not dramatically affected until the final stages of cell death when organelles, and sometimes the cells lyse; pathology of degeneration is dependent on abnormal degenerin gene dosage. | Homo sapiens | Paper_evidence | WBPaper00002711 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 13 Nov 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000326 | ||||||||
| WBDOannot00000327 | |||||||||
| WBDOannot00000606 | |||||||||
| WBDOannot00000607 | |||||||||
| WBDOannot00000608 | |||||||||
| Molecular_info | Corresponding_CDS | C47C12.6a | |||||||
| C47C12.6b | |||||||||
| C47C12.6c | |||||||||
| C47C12.6d | |||||||||
| C47C12.6e | |||||||||
| C47C12.6f | |||||||||
| C47C12.6g | |||||||||
| Corresponding_transcript | C47C12.6a.1 | ||||||||
| C47C12.6a.2 | |||||||||
| C47C12.6b.1 | |||||||||
| C47C12.6c.1 | |||||||||
| C47C12.6d.1 | |||||||||
| C47C12.6e.1 | |||||||||
| C47C12.6f.1 | |||||||||
| C47C12.6g.1 | |||||||||
| Other_sequence (23) | |||||||||
| Associated_feature | WBsf1005947 | ||||||||
| WBsf1023306 | |||||||||
| WBsf235973 | |||||||||
| WBsf235974 | |||||||||
| WBsf235975 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00012066 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00042661 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00042658 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00012062 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00012061 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr223 | ||||||||
| Expr1018755 | |||||||||
| Expr1024786 | |||||||||
| Expr1030590 | |||||||||
| Expr1146645 | |||||||||
| Expr1146648 | |||||||||
| Expr2001706 | |||||||||
| Expr2010843 | |||||||||
| Expr2019933 | |||||||||
| Expr2029081 | |||||||||
| Drives_construct | WBCnstr00004791 | ||||||||
| WBCnstr00027842 | |||||||||
| WBCnstr00037184 | |||||||||
| Construct_product | WBCnstr00027842 | ||||||||
| WBCnstr00037184 | |||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (127) | |||||||||
| Interaction (43) | |||||||||
| Map_info | Map | X | Position | -1.27954 | Error | 0.007914 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | C47C12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Negative | Outside_rearr | raDf2 | |||||||
| raDf6 | |||||||||
| raDf7 | |||||||||
| raDf9 | |||||||||
| Mapping_data | 2_point | 1828 | |||||||
| Multi_point | 789 | ||||||||
| 1202 | |||||||||
| 1203 | |||||||||
| 1337 | |||||||||
| 4631 | |||||||||
| Pos_neg_data | 9429 | ||||||||
| 9431 | |||||||||
| 9434 | |||||||||
| 9436 | |||||||||
| Reference (130) | |||||||||
| Remark | C47C12.1 was merged into .6. [sdm 11/2000] | ||||||||
| Method | Gene |
