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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
Reference (7)
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