Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mybpc1 | Rat | congenital myopathy | | ISS | Mybpc1 (Mus musculus) | 13592920 | | MouseDO | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mybpc1 | Rat | congenital myopathy | | ISS | Mybpc1 (Mus musculus) | 13592920 | | MouseDO | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Peripheral nervous system-specific genes identified by subtractive cDNA cloning. | Akopian AN and Wood JN, J Biol Chem 1995 Sep 8;270(36):21264-70. |
| 2. | 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. |
| 3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 4. | GOA pipeline | RGD automated data pipeline |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | Myosin-binding protein C (MyBP-C) in cardiac muscle and contractility. | Winegrad S Adv Exp Med Biol 2003;538:31-40; discussion 40-1. |
| PMID:8618961 | PMID:17900708 | PMID:18817784 | PMID:19403693 | PMID:22206666 | PMID:24270810 |
| Mybpc1 (Rattus norvegicus - Norway rat) |
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| MYBPC1 (Homo sapiens - human) |
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| Mybpc1 (Mus musculus - house mouse) |
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| Mybpc1 (Chinchilla lanigera - long-tailed chinchilla) |
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| MYBPC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MYBPC1 (Canis lupus familiaris - dog) |
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| Mybpc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MYBPC1 (Sus scrofa - pig) |
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| MYBPC1 (Chlorocebus sabaeus - green monkey) |
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| Mybpc1 (Heterocephalus glaber - naked mole-rat) |
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| Mybpc1 (Rattus rattus - black rat) |
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.
Variants in Mybpc1
553 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 |
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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 | 66 | 140 | 83 | 82 | 51 | 28 | 51 | 6 | 269 | 127 | 10 | 114 | 67 | 92 | 31 | 10 | 10 |
| RefSeq Transcripts | NM_001100758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008765246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC121402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ214958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ215501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X90475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000079235 ⟹ ENSRNOP00000074295 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000079774 ⟹ ENSRNOP00000069067 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000093952 ⟹ ENSRNOP00000088357 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000096740 ⟹ ENSRNOP00000089644 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000099906 ⟹ ENSRNOP00000081596 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000108545 ⟹ ENSRNOP00000081963 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000113153 ⟹ ENSRNOP00000083276 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000116177 ⟹ ENSRNOP00000096490 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000171294 ⟹ ENSRNOP00000102074 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001100758 ⟹ NP_001094228 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765246 ⟹ XP_008763468 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765247 ⟹ XP_008763469 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765249 ⟹ XP_008763471 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_008765250 ⟹ XP_008763472 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_008765251 ⟹ XP_008763473 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_008765253 ⟹ XP_008763475 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_008765255 ⟹ XP_008763477 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_008765256 ⟹ XP_008763478 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765257 ⟹ XP_008763479 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008765258 ⟹ XP_008763480 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063263763 ⟹ XP_063119833 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263764 ⟹ XP_063119834 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063263765 ⟹ XP_063119835 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263766 ⟹ XP_063119836 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063263767 ⟹ XP_063119837 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263768 ⟹ XP_063119838 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001094228 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008763468 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763469 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763471 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763472 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763473 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763475 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763477 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763478 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763479 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008763480 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119833 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119834 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119835 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119836 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119837 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119838 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | CAA62085 | (Get FASTA) | NCBI Sequence Viewer |
| EDM17000 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM17001 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM17002 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM17003 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000069067 | ||
| ENSRNOP00000074295 | |||
| ENSRNOP00000081596 | |||
| ENSRNOP00000081963 | |||
| ENSRNOP00000083276 | |||
| ENSRNOP00000088357 | |||
| ENSRNOP00000089644 | |||
| ENSRNOP00000096490 | |||
| GenBank Protein | Q63518 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001094228 ⟸ NM_001100758 |
| - UniProtKB: | A0A0G2K7Q0 (UniProtKB/TrEMBL), A0A8I5ZT65 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763468 ⟸ XM_008765246 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I5ZT65 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763469 ⟸ XM_008765247 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8I5ZT65 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763471 ⟸ XM_008765249 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I5ZWN5 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763473 ⟸ XM_008765251 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | A0A8I6ATF3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763477 ⟸ XM_008765255 |
| - Peptide Label: | isoform X11 |
| - UniProtKB: | A0A8I6AAS2 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763478 ⟸ XM_008765256 |
| - Peptide Label: | isoform X12 |
| - UniProtKB: | A0A8I6ATF3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763472 ⟸ XM_008765250 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I5ZT65 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763475 ⟸ XM_008765253 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | A0A8I5ZT65 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763479 ⟸ XM_008765257 |
| - Peptide Label: | isoform X13 |
| - UniProtKB: | A0A8I6ATF3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008763480 ⟸ XM_008765258 |
| - Peptide Label: | isoform X15 |
| - UniProtKB: | A0A8I6AAS2 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000074295 ⟸ ENSRNOT00000079235 |
| Ensembl Acc Id: | ENSRNOP00000069067 ⟸ ENSRNOT00000079774 |
| Ensembl Acc Id: | ENSRNOP00000081596 ⟸ ENSRNOT00000099906 |
| Ensembl Acc Id: | ENSRNOP00000089644 ⟸ ENSRNOT00000096740 |
| Ensembl Acc Id: | ENSRNOP00000081963 ⟸ ENSRNOT00000108545 |
| Ensembl Acc Id: | ENSRNOP00000096490 ⟸ ENSRNOT00000116177 |
| Ensembl Acc Id: | ENSRNOP00000083276 ⟸ ENSRNOT00000113153 |
| Ensembl Acc Id: | ENSRNOP00000088357 ⟸ ENSRNOT00000093952 |
| RefSeq Acc Id: | XP_063119838 ⟸ XM_063263768 |
| - Peptide Label: | isoform X16 |
| - UniProtKB: | A0A8I5ZTA0 (UniProtKB/TrEMBL), A0A8I6ATF3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119837 ⟸ XM_063263767 |
| - Peptide Label: | isoform X14 |
| - UniProtKB: | A0A8I6GG51 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119834 ⟸ XM_063263764 |
| - Peptide Label: | isoform X7 |
| - UniProtKB: | A0A8I6GG51 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119836 ⟸ XM_063263766 |
| - Peptide Label: | isoform X10 |
| - UniProtKB: | A0A8I5ZWN5 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119835 ⟸ XM_063263765 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | A0A8I6ATF3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119833 ⟸ XM_063263763 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6ATF3 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000102074 ⟸ ENSRNOT00000171294 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q63518-F1-model_v2 | AlphaFold | Q63518 | 1-621 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13695129 | ||||||||
| Promoter ID: | EPDNEW_R5654 | ||||||||
| Type: | single initiation site | ||||||||
| Name: | Mybpc1_1 | ||||||||
| Description: | myosin binding protein C, slow type | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:735102 | AgrOrtholog |
| BioCyc Gene | G2FUF-34505 | BioCyc |
| Ensembl Genes | ENSRNOG00000056493 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000079235 | ENTREZGENE |
| ENSRNOT00000079774 | ENTREZGENE | |
| ENSRNOT00000093952 | ENTREZGENE | |
| ENSRNOT00000096740 | ENTREZGENE | |
| ENSRNOT00000099906 | ENTREZGENE | |
| ENSRNOT00000108545 | ENTREZGENE | |
| ENSRNOT00000113153 | ENTREZGENE | |
| ENSRNOT00000116177 | ENTREZGENE | |
| Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
| InterPro | FN3_dom | UniProtKB/Swiss-Prot |
| FN3_sf | UniProtKB/Swiss-Prot | |
| Ig-like_dom | UniProtKB/Swiss-Prot | |
| Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
| Ig-like_fold | UniProtKB/Swiss-Prot | |
| Ig_I-set | UniProtKB/Swiss-Prot | |
| Ig_sub | UniProtKB/Swiss-Prot | |
| Striated_Muscle_Regulatory | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:362867 | UniProtKB/Swiss-Prot |
| NCBI Gene | 362867 | ENTREZGENE |
| PANTHER | MYOSIN-BINDING PROTEIN C, SLOW-TYPE | UniProtKB/Swiss-Prot |
| TITIN | UniProtKB/Swiss-Prot | |
| Pfam | fn3 | UniProtKB/Swiss-Prot |
| I-set | UniProtKB/Swiss-Prot | |
| PhenoGen | Mybpc1 | PhenoGen |
| PROSITE | FN3 | UniProtKB/Swiss-Prot |
| IG_LIKE | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000056493 | RatGTEx |
| SMART | FN3 | UniProtKB/Swiss-Prot |
| SM00409 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
| SSF49265 | UniProtKB/Swiss-Prot | |
| UniProt | A0A0G2JUE5_RAT | UniProtKB/TrEMBL |
| A0A0G2K7Q0 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I5ZT65 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I5ZTA0 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I5ZWN5 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6AAS2 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6ATF3 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6GG51 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0ABK0LKG6_RAT | UniProtKB/TrEMBL | |
| A6IFP5_RAT | UniProtKB/TrEMBL | |
| A6IFP8_RAT | UniProtKB/TrEMBL | |
| MYPC1_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-11-11 | Mybpc1 | myosin binding protein C1 | Mybpc1 | myosin binding protein C, slow type | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-07-08 | Mybpc1 | myosin binding protein C, slow type | Symbol and Name status set to approved | 1299863 | APPROVED |