WormBase Tree Display for Gene: WBGene00019819
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| WBGene00019819 | SMap | S_parent | Sequence | R02D3 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | aass-1 | |||||||
| Sequence_name | R02D3.1 | ||||||||
| Molecular_name | R02D3.1a | ||||||||
| R02D3.1a.1 | |||||||||
| CE18095 | |||||||||
| R02D3.1b | |||||||||
| CE48677 | |||||||||
| R02D3.1b.1 | |||||||||
| Other_name | CELE_R02D3.1 | Accession_evidence | NDB | BX284604 | |||||
| Public_name | aass-1 | ||||||||
| DB_info | Database | AceView | gene | 4B3 | |||||
| WormQTL | gene | WBGene00019819 | |||||||
| WormFlux | gene | WBGene00019819 | |||||||
| NDB | locus_tag | CELE_R02D3.1 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00019819|UniProtKB=U4PFH6 | |||||||
| family | PTHR11133 | ||||||||
| NCBI | gene | 176842 | |||||||
| RefSeq | protein | NM_001307729.4 | |||||||
| NM_067483.6 | |||||||||
| TrEMBL | UniProtAcc | U4PFH6 | |||||||
| O44503 | |||||||||
| UniProt_GCRP | UniProtAcc | U4PFH6 | |||||||
| OMIM | gene | 605113 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:02 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 16 Jan 2018 11:32:43 | WBPerson1983 | Name_change | CGC_name | aass-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | aass | ||||||||
| Allele (82) | |||||||||
| Strain | WBStrain00031714 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00032586 | ||||||||
| 00032587 | |||||||||
| 00032588 | |||||||||
| 00032589 | |||||||||
| 00032590 | |||||||||
| 00032591 | |||||||||
| 00032592 | |||||||||
| 00032593 | |||||||||
| 00032594 | |||||||||
| 00032595 | |||||||||
| Ortholog (36) | |||||||||
| Structured_description | Concise_description | The R02D3.1 gene encodes an ortholog of the human gene ALPHA-AMINOADIPATE SEMIALDEHYDE SYNTHASE (AASS; OMIM:605113), which when mutated leads to hyperlysinemia (OMIM:238700). | Paper_evidence | WBPaper00004637 | |||||
| Curator_confirmed | WBPerson1823 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable saccharopine dehydrogenase activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid. Predicted to be located in cytoplasm. Expressed in gonadal sheath cell and hypodermal cell. Human ortholog(s) of this gene implicated in hyperlysinemia. Is an ortholog of human AASS (aminoadipate-semialdehyde synthase). | 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:9274 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17366) | ||||
| Molecular_info | Corresponding_CDS | R02D3.1a | |||||||
| R02D3.1b | |||||||||
| Corresponding_transcript | R02D3.1a.1 | ||||||||
| R02D3.1b.1 | |||||||||
| Other_sequence (74) | |||||||||
| Associated_feature (11) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00051122 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00017312 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00017315 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00034526 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00078534 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00078635 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr14637 | ||||||||
| Expr14640 | |||||||||
| Expr1022640 | |||||||||
| Expr1038586 | |||||||||
| Expr1154831 | |||||||||
| Expr2005313 | |||||||||
| Expr2023533 | |||||||||
| Drives_construct | WBCnstr00025572 | ||||||||
| WBCnstr00041188 | |||||||||
| WBCnstr00041191 | |||||||||
| Construct_product | WBCnstr00025572 | ||||||||
| Microarray_results (22) | |||||||||
| Expression_cluster (191) | |||||||||
| Interaction (39) | |||||||||
| Map_info | Map | IV | Position | -26.7789 | |||||
| Positive | Positive_clone | R02D3 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00055090 | |||||||||
| WBPaper00055974 | |||||||||
| WBPaper00065272 | |||||||||
| 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 |
