WormBase Tree Display for Gene: WBGene00001414
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WBGene00001414 | SMap | S_parent | Sequence | F43G9 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 |