WormBase Tree Display for Gene: WBGene00022816
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| WBGene00022816 | SMap | S_parent | Sequence | CHROMOSOME_III | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 3 | |||||||
| Name | CGC_name | fbn-1 | Person_evidence | WBPerson545 | |||||
| WBPerson3379 | |||||||||
| WBPerson1983 | |||||||||
| Sequence_name | ZK783.1 | ||||||||
| Molecular_name (27) | |||||||||
| Other_name | let-821 | ||||||||
| cpg-16 | Paper_evidence | WBPaper00053350 | |||||||
| CELE_ZK783.1 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | fbn-1 | ||||||||
| DB_info | Database | AceView | gene | 3I729 | |||||
| WormQTL | gene | WBGene00022816 | |||||||
| WormFlux | gene | WBGene00022816 | |||||||
| OMIM | disease | 154700 | |||||||
| gene | 134797 | ||||||||
| 612570 | |||||||||
| NDB | locus_tag | CELE_ZK783.1 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00022816|UniProtKB=I6Z0I7 | |||||||
| family | PTHR24039 | ||||||||
| NCBI | gene | 176076 | |||||||
| RefSeq | protein | NM_001276783.3 | |||||||
| NM_001276787.4 | |||||||||
| NM_001276782.4 | |||||||||
| NM_001276789.4 | |||||||||
| NM_001276785.3 | |||||||||
| NM_001276780.3 | |||||||||
| NM_001276786.3 | |||||||||
| NM_066269.6 | |||||||||
| NM_001276788.3 | |||||||||
| TrEMBL | UniProtAcc | I7J4C9 | |||||||
| I7LFE6 | |||||||||
| I7K4J6 | |||||||||
| I7LHV9 | |||||||||
| I7J4C8 | |||||||||
| Q23587 | |||||||||
| I6Z0I7 | |||||||||
| I7K4J2 | |||||||||
| I7LHV8 | |||||||||
| UniProt_GCRP | UniProtAcc | I6Z0I7 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:06 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 28 Jul 2005 14:07:57 | WBPerson2970 | Name_change | CGC_name | fbn-1 | ||||
| 3 | 20 May 2019 14:10:26 | WBPerson1983 | Name_change | CGC_name | fbn-1 | ||||
| Other_name | let-821 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | fbn | ||||||||
| Allele (207) | |||||||||
| Strain | WBStrain00054908 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00023935 | ||||||||
| 00126798 | |||||||||
| Ortholog (39) | |||||||||
| Paralog | WBGene00003173 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WBGene00003482 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00003497 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00007170 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00001106 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00004963 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00009114 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00010134 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00013498 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00013855 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| Structured_description (2) | |||||||||
| Disease_info | Experimental_model | DOID:65 | Homo sapiens | Paper_evidence | WBPaper00046588 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 26 Oct 2018 00:00:00 | ||||||||
| Potential_model (13) | |||||||||
| Disease_relevance | Mutations in the human extracellular matrix protein fibrillin-1 (FBN1) lead to Marfan syndrome and several other disorders of connective tissue and skin; Both Marfan and Weill-Marchesani syndromes are characterized by abnormalities in connective tissue leading to heart, eye and skeletal abnormalities; FBN1 gene mutations also cause acromicric dysplasia characterized by severely short stature, short limbs and stiff joints; FBN1 gene mutations also cause MASS syndrome, involving abnormalities of the mitral heart valve, aorta, skeleton and skin; FBN1 gene mutations may also be involved in Shprintzen-Goldberg syndrome in infants which involves premature fusion of certain bones of the skull, and skeletal and skin abnormalities; in elegans mutations in fbn-1/fibrillin1 cause defects in molting. | Homo sapiens | Paper_evidence | WBPaper00026763 | |||||
| Accession_evidence | OMIM | 154700 | |||||||
| 134797 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Dec 2013 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000253 | ||||||||
| Molecular_info | Corresponding_CDS | ZK783.1a | |||||||
| ZK783.1b | |||||||||
| ZK783.1d | |||||||||
| ZK783.1e | |||||||||
| ZK783.1f | |||||||||
| ZK783.1g | |||||||||
| ZK783.1h | |||||||||
| ZK783.1j | |||||||||
| ZK783.1k | |||||||||
| Corresponding_CDS_history | ZK783.1:wp206 | ||||||||
| ZK783.1i:wp275 | |||||||||
| Corresponding_transcript | ZK783.1a.1 | ||||||||
| ZK783.1b.1 | |||||||||
| ZK783.1d.1 | |||||||||
| ZK783.1e.1 | |||||||||
| ZK783.1f.1 | |||||||||
| ZK783.1g.1 | |||||||||
| ZK783.1h.1 | |||||||||
| ZK783.1j.1 | |||||||||
| ZK783.1k.1 | |||||||||
| Other_sequence (20) | |||||||||
| Associated_feature (22) | |||||||||
| Experimental_info | RNAi_result (22) | ||||||||
| Expr_pattern | Expr15951 | ||||||||
| Expr1025080 | |||||||||
| Expr1040095 | |||||||||
| Expr1163127 | |||||||||
| Expr2011446 | |||||||||
| Expr2029684 | |||||||||
| Drives_construct | WBCnstr00042617 | ||||||||
| Construct_product | WBCnstr00014819 | ||||||||
| WBCnstr00042617 | |||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (280) | |||||||||
| Interaction (23) | |||||||||
| Map_info | Map | III | Position | -0.655224 | Error | 0.002689 | |||
| Positive | Positive_clone | ZK783 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 5355 | |||||||
| 4789 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (19) | |||||||||
| Remark | 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 | |||||||
| Method | Gene |
