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 (9) | |||||||||
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 (7) | |||||||||
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 |