WormBase Tree Display for Gene: WBGene00000950
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WBGene00000950 | SMap | S_parent | Sequence | CHROMOSOME_X | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 |