Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ccdc78 | Rat | centronuclear myopathy 4 | | ISO | CCDC78 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ccdc78 | Rat | centronuclear myopathy 4 | | ISO | CCDC78 (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 |
Ccdc78 (Rattus norvegicus - Norway rat) |
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CCDC78 (Homo sapiens - human) |
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Ccdc78 (Mus musculus - house mouse) |
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Ccdc78 (Chinchilla lanigera - long-tailed chinchilla) |
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CCDC78 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CCDC78 (Canis lupus familiaris - dog) |
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Ccdc78 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CCDC78 (Sus scrofa - pig) |
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CCDC78 (Chlorocebus sabaeus - green monkey) |
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Ccdc78 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ccdc78
16 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
AA998064 |
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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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nervous system
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renal system
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reproductive system
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respiratory system
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6 | 11 | 47 | 108 | 46 | 50 | 20 | 21 | 20 | 6 | 163 | 86 | 93 | 43 | 58 | 30 |
Ensembl Acc Id: | ENSRNOT00000020363 ⟹ ENSRNOP00000020363 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039087110 ⟹ XP_038943038 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063270093 ⟹ XP_063126163 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001417115 | (Get FASTA) | NCBI Sequence Viewer |
NP_001417116 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038943038 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063126163 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI68182 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000020363.7 |
Ensembl Acc Id: | ENSRNOP00000020363 ⟸ ENSRNOT00000020363 |
RefSeq Acc Id: | XP_038943038 ⟸ XM_039087110 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_063126163 ⟸ XM_063270093 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F7ELZ7-F1-model_v2 | AlphaFold | F7ELZ7 | 1-425 | 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:1560244 | AgrOrtholog |
BioCyc Gene | G2FUF-25760 | BioCyc |
Ensembl Genes | ENSRNOG00000022331 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000020363.7 | UniProtKB/TrEMBL |
InterPro | CCDC78 | UniProtKB/TrEMBL |
DUF4472 | UniProtKB/TrEMBL | |
NCBI Gene | 302996 | ENTREZGENE |
PANTHER | COILED-COIL DOMAIN-CONTAINING PROTEIN 78 | UniProtKB/TrEMBL |
PTHR22106 | UniProtKB/TrEMBL | |
Pfam | DUF4472 | UniProtKB/TrEMBL |
PhenoGen | Ccdc78 | PhenoGen |
RatGTEx | ENSRNOG00000022331 | RatGTEx |
Superfamily-SCOP | Formin homology 2 domain (FH2 domain) | UniProtKB/TrEMBL |
UniProt | F7ELZ7 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2012-10-11 | Ccdc78 | coiled-coil domain containing 78 | RGD1560244 | similar to hypothetical protein FLJ34512 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | RGD1560244 | similar to hypothetical protein FLJ34512 | RGD1560244_predicted | similar to hypothetical protein FLJ34512 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-07 | RGD1560244_predicted | similar to hypothetical protein FLJ34512 (predicted) | LOC302996 | similar to hypothetical protein FLJ34512 | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC302996 | similar to hypothetical protein FLJ34512 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |