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WormBase Tree Display for Gene: WBGene00010478

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Name Class

WBGene00010478SMapS_parentSequenceK01G5
IdentityVersion2
NameCGC_namedkc-1Person_evidenceWBPerson260
Sequence_nameK01G5.5
Molecular_nameK01G5.5
K01G5.5.1
CE16195
Other_nameCELE_K01G5.5Accession_evidenceNDBBX284603
Public_namedkc-1
DB_infoDatabase (13)
SpeciesCaenorhabditis elegans
HistoryVersion_change126 May 2004 16:54:51WBPerson1971EventImportedInitial conversion from CDS class of WS125
202 Mar 2022 23:57:00WBPerson51134Name_changeCGC_namedkc-1
StatusLive
Gene_infoBiotypeSO:0001217
Gene_classdkc
Allele (34)
StrainWBStrain00037243
RNASeq_FPKM (74)
GO_annotation (18)
Contained_in_operonCEOP3842
Ortholog (36)
Structured_descriptionConcise_descriptionThe K01G5.5 gene encodes an ortholog of human DYSKERIN (DKC1; OMIM:300126), which when mutated leads to X-linked dyskeratosis congenita (OMIM:305000); the K01G5.5 protein is predicted to be mitochondrial with 68% accuracy.Paper_evidenceWBPaper00004103
WBPaper00004424
Curator_confirmedWBPerson1823
WBPerson567
Date_last_updated17 Jun 2004 00:00:00
Automated_descriptionPredicted to enable pseudouridine synthase activity. Predicted to be involved in box H/ACA RNA 3'-end processing and pseudouridine synthesis. Predicted to be located in nucleolus. Predicted to be part of box H/ACA snoRNP complex. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita and aplastic anemia. Is an ortholog of human DKC1 (dyskerin pseudouridine synthase 1).Paper_evidenceWBPaper00065943
Curator_confirmedWBPerson324
WBPerson37462
Inferred_automaticallyThis description was generated automatically by a script based on data from the WS291 version of WormBase
Date_last_updated29 Nov 2023 00:00:00
Disease_infoPotential_modelDOID:2729Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2890)
DOID:12449Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2890)
DOID:0070025Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2890)
Molecular_infoCorresponding_CDSK01G5.5
Corresponding_transcriptK01G5.5.1
Other_sequence (91)
Associated_featureWBsf047618
WBsf645579
WBsf659539
WBsf976018
WBsf976019
WBsf981573
WBsf994137
WBsf225757
WBsf225758
WBsf225759
Experimental_infoRNAi_resultWBRNAi00016410Inferred_automaticallyRNAi_primary
WBRNAi00049635Inferred_automaticallyRNAi_primary
WBRNAi00002578Inferred_automaticallyRNAi_primary
WBRNAi00033832Inferred_automaticallyRNAi_primary
WBRNAi00001600Inferred_automaticallyRNAi_primary
WBRNAi00007830Inferred_automaticallyRNAi_primary
Expr_patternExpr1027254
Expr1034573
Expr1153363
Expr2004655
Expr2022883
Drives_constructWBCnstr00031390
Construct_productWBCnstr00031390
Microarray_results (19)
Expression_cluster (163)
Interaction (397)
Map_infoMapIIIPosition5.19412
PositivePositive_cloneK01G5Inferred_automaticallyFrom sequence, transcript, pseudogene data
Pseudo_map_position
ReferenceWBPaper00026935
WBPaper00030479
WBPaper00031949
WBPaper00038491
WBPaper00049828
WBPaper00054284
WBPaper00055090
RemarkMap 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
MethodGene