WormBase Tree Display for Gene: WBGene00010478
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WBGene00010478 | SMap | S_parent | Sequence | K01G5 | ||
---|---|---|---|---|---|---|
Identity (6) | ||||||
Gene_info | Biotype | SO:0001217 | ||||
Gene_class | dkc | |||||
Allele (34) | ||||||
Strain | WBStrain00037243 | |||||
RNASeq_FPKM (74) | ||||||
GO_annotation (18) | ||||||
Contained_in_operon | CEOP3842 | |||||
Ortholog (36) | ||||||
Structured_description | Concise_description | The 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_evidence | WBPaper00004103 | ||
WBPaper00004424 | ||||||
Curator_confirmed | WBPerson1823 | |||||
WBPerson567 | ||||||
Date_last_updated | 17 Jun 2004 00:00:00 | |||||
Automated_description | Predicted 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_evidence | WBPaper00065943 | |||
Curator_confirmed | WBPerson324 | |||||
WBPerson37462 | ||||||
Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | |||||
Date_last_updated | 29 Nov 2023 00:00:00 | |||||
Disease_info | Potential_model | DOID:2729 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | |
DOID:12449 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | |||
DOID:0070025 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | |||
Molecular_info | Corresponding_CDS | K01G5.5 | ||||
Corresponding_transcript | K01G5.5.1 | |||||
Other_sequence (91) | ||||||
Associated_feature | WBsf047618 | |||||
WBsf645579 | ||||||
WBsf659539 | ||||||
WBsf976018 | ||||||
WBsf976019 | ||||||
WBsf981573 | ||||||
WBsf994137 | ||||||
WBsf225757 | ||||||
WBsf225758 | ||||||
WBsf225759 | ||||||
Experimental_info | RNAi_result | WBRNAi00016410 | Inferred_automatically | RNAi_primary | ||
WBRNAi00049635 | Inferred_automatically | RNAi_primary | ||||
WBRNAi00002578 | Inferred_automatically | RNAi_primary | ||||
WBRNAi00033832 | Inferred_automatically | RNAi_primary | ||||
WBRNAi00001600 | Inferred_automatically | RNAi_primary | ||||
WBRNAi00007830 | Inferred_automatically | RNAi_primary | ||||
Expr_pattern | Expr1027254 | |||||
Expr1034573 | ||||||
Expr1153363 | ||||||
Expr2004655 | ||||||
Expr2022883 | ||||||
Drives_construct | WBCnstr00031390 | |||||
Construct_product | WBCnstr00031390 | |||||
Microarray_results (19) | ||||||
Expression_cluster (163) | ||||||
Interaction (397) | ||||||
Map_info | Map | III | Position | 5.19412 | ||
Positive | Positive_clone | K01G5 | Inferred_automatically | From sequence, transcript, pseudogene data | ||
Pseudo_map_position | ||||||
Reference | WBPaper00026935 | |||||
WBPaper00030479 | ||||||
WBPaper00031949 | ||||||
WBPaper00038491 | ||||||
WBPaper00049828 | ||||||
WBPaper00054284 | ||||||
WBPaper00055090 | ||||||
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 |