WormBase Tree Display for Gene: WBGene00001414
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| WBGene00001414 | SMap | S_parent | Sequence | F43G9 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | fer-1 | Person_evidence | WBPerson680 | |||||
| Sequence_name | F43G9.6 | ||||||||
| Molecular_name | F43G9.6a | ||||||||
| F43G9.6a.1 | |||||||||
| CE10364 | |||||||||
| F43G9.6b | |||||||||
| CE42470 | |||||||||
| F43G9.6b.1 | |||||||||
| Other_name | CELE_F43G9.6 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | fer-1 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:24 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info (11) | |||||||||
| Disease_info | Experimental_model | DOID:11724 | Homo sapiens | Paper_evidence | WBPaper00035197 | ||||
| WBPaper00044487 | |||||||||
| Accession_evidence | OMIM | 253601 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 01 Sep 2021 00:00:00 | ||||||||
| Potential_model | DOID:0110276 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:3097) | |||||
| DOID:0110535 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8515) | ||||||
| DOID:14735 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:3656) | ||||||
| DOID:0070199 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:3097) | ||||||
| DOID:0111187 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:3097) | ||||||
| DOID:9884 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:3097) | ||||||
| Disease_relevance | C. elegans FER-1 is orthologous to the membrane-anchored cytosolic human protein dysferlin (DYSF) which when mutated leads to muscular dystrophies like Miyoshi muscular dystrophy and limb girdle muscular dystrophy; FER-1 is also homologous to myoferlin (MYOF) and otoferlin (OTOF), which when mutated, leads to autosomal recessive deafness 9; in C. elegans, microarray studies show that in loss-of -fucntion fer-1 mutants, the expression of several hundred genes involved in muscle structure and function are altered; further, in elegans as well as mice, either loss-of-function mutations of fer-1 or over-expression of fer-1 in the muscle, affected muscle cholinergic signaling; treating dysferlin-deficient mice with the acetylcholinesterase inhibitor, Pyridostigmine bromide, improves the affected in vivo muscle function. | Homo sapiens | Paper_evidence | WBPaper00040090 | |||||
| WBPaper00035197 | |||||||||
| WBPaper00044487 | |||||||||
| Accession_evidence | OMIM | 254130 | |||||||
| 606768 | |||||||||
| 603681 | |||||||||
| 601071 | |||||||||
| 603009 | |||||||||
| 604603 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 Sep 2015 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000059 | ||||||||
| WBDOannot00001030 | |||||||||
| WBDOannot00001031 | |||||||||
| WBDOannot00001032 | |||||||||
| Molecular_info | Corresponding_CDS | F43G9.6a | |||||||
| F43G9.6b | |||||||||
| Corresponding_transcript | F43G9.6a.1 | ||||||||
| F43G9.6b.1 | |||||||||
| Other_sequence | Tcol_isotig19387 | ||||||||
| Associated_feature | WBsf984469 | ||||||||
| WBsf984470 | |||||||||
| WBsf984471 | |||||||||
| WBsf984472 | |||||||||
| WBsf1010255 | |||||||||
| WBsf219953 | |||||||||
| Experimental_info | RNAi_result (12) | ||||||||
| Expr_pattern | Expr1623 | ||||||||
| Expr7857 | |||||||||
| Expr15876 | |||||||||
| Expr1018640 | |||||||||
| Expr1030848 | |||||||||
| Expr1151085 | |||||||||
| Expr2011752 | |||||||||
| Expr2029990 | |||||||||
| Drives_construct | WBCnstr00018655 | ||||||||
| WBCnstr00036962 | |||||||||
| Construct_product | WBCnstr00018538 | ||||||||
| WBCnstr00018539 | |||||||||
| WBCnstr00018540 | |||||||||
| WBCnstr00036962 | |||||||||
| Regulate_expr_cluster | WBPaper00035197:fer-1_downregulated | ||||||||
| WBPaper00035197:fer-1_upregulated | |||||||||
| Antibody | WBAntibody00001097 | ||||||||
| WBAntibody00001098 | |||||||||
| Microarray_results (22) | |||||||||
| Expression_cluster (179) | |||||||||
| Interaction (24) | |||||||||
| WBProcess | WBbiopr:00000069 | ||||||||
| Map_info | Map | I | Position | 3.00412 | Error | 0.003144 | |||
| Well_ordered | |||||||||
| Positive | Inside_rearr | nDf23 | |||||||
| nDf24 | |||||||||
| nDf25 | |||||||||
| nDf26 | |||||||||
| dxDf1 | |||||||||
| Positive_clone | C02D7 | ||||||||
| F43G9 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Negative | Outside_rearr | nDf29 | |||||||
| Mapping_data | 2_point | 25 | |||||||
| 264 | |||||||||
| 2507 | |||||||||
| 2580 | |||||||||
| 3214 | |||||||||
| Multi_point (24) | |||||||||
| Pos_neg_data | 743 | ||||||||
| 752 | |||||||||
| 761 | |||||||||
| Reference (86) | |||||||||
| Method | Gene |
