Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cep83 | Rat | nephronophthisis 18 | | ISO | CEP83 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cep83 | Rat | nephronophthisis 18 | | ISO | CEP83 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 5. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| PMID:8889548 | PMID:12947022 | PMID:15489334 | PMID:23348840 | PMID:23530209 | PMID:24469809 |
| Cep83 (Rattus norvegicus - Norway rat) |
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| CEP83 (Homo sapiens - human) |
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| Cep83 (Mus musculus - house mouse) |
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| Cep83 (Chinchilla lanigera - long-tailed chinchilla) |
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| CEP83 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CEP83 (Canis lupus familiaris - dog) |
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| Cep83 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CEP83 (Sus scrofa - pig) |
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| CEP83 (Chlorocebus sabaeus - green monkey) |
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| Cep83 (Heterocephalus glaber - naked mole-rat) |
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| Cep83 (Rattus rattus - black rat) |
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Variants in Cep83
916 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH127423 |
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| AW533436 |
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| RH139960 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001014266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008765317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017595016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039079678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264040 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063264043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA818223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AI454855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW143552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC081969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CF109495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CK476474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CO389123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FM090143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000034639 ⟹ ENSRNOP00000031786 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001014266 ⟹ NP_001014288 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765317 ⟹ XP_008763539 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017595016 ⟹ XP_017450505 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039079678 ⟹ XP_038935606 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264026 ⟹ XP_063120096 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264027 ⟹ XP_063120097 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264028 ⟹ XP_063120098 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264030 ⟹ XP_063120100 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264031 ⟹ XP_063120101 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264032 ⟹ XP_063120102 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264033 ⟹ XP_063120103 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264034 ⟹ XP_063120104 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264035 ⟹ XP_063120105 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264036 ⟹ XP_063120106 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264037 ⟹ XP_063120107 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264038 ⟹ XP_063120108 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264039 ⟹ XP_063120109 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264040 ⟹ XP_063120110 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264041 ⟹ XP_063120111 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264042 ⟹ XP_063120112 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063264043 ⟹ XP_063120113 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001014288 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008763539 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017450505 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038935606 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120096 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120097 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120098 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120100 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120101 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120102 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120103 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120104 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120105 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120106 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120107 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120108 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120109 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120110 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120111 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120112 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063120113 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH81969 | (Get FASTA) | NCBI Sequence Viewer |
| EDM16874 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM16875 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000031786 | ||
| ENSRNOP00000031786.4 | |||
| GenBank Protein | Q66H89 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001014288 ⟸ NM_001014266 |
| - UniProtKB: | Q66H89 (UniProtKB/Swiss-Prot), A6IG23 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763539 ⟸ XM_008765317 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
| RefSeq Acc Id: | XP_017450505 ⟸ XM_017595016 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q66H89 (UniProtKB/Swiss-Prot), A6IG23 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000031786 ⟸ ENSRNOT00000034639 |
| RefSeq Acc Id: | XP_038935606 ⟸ XM_039079678 |
| - Peptide Label: | isoform X7 |
| RefSeq Acc Id: | XP_063120101 ⟸ XM_063264031 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q66H89 (UniProtKB/Swiss-Prot), A6IG23 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063120097 ⟸ XM_063264027 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063120100 ⟸ XM_063264030 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063120102 ⟸ XM_063264032 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_063120106 ⟸ XM_063264036 |
| - Peptide Label: | isoform X8 |
| RefSeq Acc Id: | XP_063120105 ⟸ XM_063264035 |
| - Peptide Label: | isoform X6 |
| RefSeq Acc Id: | XP_063120107 ⟸ XM_063264037 |
| - Peptide Label: | isoform X9 |
| RefSeq Acc Id: | XP_063120104 ⟸ XM_063264034 |
| - Peptide Label: | isoform X5 |
| RefSeq Acc Id: | XP_063120112 ⟸ XM_063264042 |
| - Peptide Label: | isoform X14 |
| RefSeq Acc Id: | XP_063120111 ⟸ XM_063264041 |
| - Peptide Label: | isoform X13 |
| RefSeq Acc Id: | XP_063120108 ⟸ XM_063264038 |
| - Peptide Label: | isoform X10 |
| RefSeq Acc Id: | XP_063120109 ⟸ XM_063264039 |
| - Peptide Label: | isoform X11 |
| RefSeq Acc Id: | XP_063120113 ⟸ XM_063264043 |
| - Peptide Label: | isoform X14 |
| RefSeq Acc Id: | XP_063120103 ⟸ XM_063264033 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063120096 ⟸ XM_063264026 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063120098 ⟸ XM_063264028 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063120110 ⟸ XM_063264040 |
| - Peptide Label: | isoform X12 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q66H89-F1-model_v2 | AlphaFold | Q66H89 | 1-692 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1359593 | AgrOrtholog |
| BioCyc Gene | G2FUF-34357 | BioCyc |
| Ensembl Genes | ENSRNOG00000007859 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000034639 | ENTREZGENE |
| ENSRNOT00000034639.5 | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7125504 | IMAGE-MGC_LOAD |
| InterPro | Centro_Cilium_Assembly | UniProtKB/Swiss-Prot |
| KEGG Report | rno:366872 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:94102 | IMAGE-MGC_LOAD |
| NCBI Gene | 366872 | ENTREZGENE |
| PANTHER | NY-REN-58 ANTIGEN | UniProtKB/Swiss-Prot |
| PTHR23170:SF2 | UniProtKB/Swiss-Prot | |
| PhenoGen | Cep83 | PhenoGen |
| RatGTEx | ENSRNOG00000007859 | RatGTEx |
| UniProt | A6IG23 | ENTREZGENE, UniProtKB/TrEMBL |
| CEP83_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2014-03-12 | Cep83 | centrosomal protein 83 | Ccdc41 | coiled-coil domain containing 41 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-03-07 | Ccdc41 | coiled-coil domain containing 41 | RGD1359593 | similar to RIKEN cDNA 4921537D05 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-11-17 | RGD1359593 | similar to RIKEN cDNA 4921537D05 | Symbol updated | 1299863 | APPROVED | ||
| 2005-07-29 | LOC366872 | similar to RIKEN cDNA 4921537D05 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|