Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypertrophic cardiomyopathy 8 | | ISO | MYL3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypertrophic cardiomyopathy 8 | | ISO | MYL3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. | Andersen PS, etal., J Med Genet. 2001 Dec;38(12):E43. |
2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
3. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
8. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Rat gene mapping using PCR-analyzed microsatellites. | Serikawa T, etal., Genetics 1992 Jul;131(3):701-21. |
PMID:1429837 | PMID:1525038 | PMID:1901785 | PMID:2211821 | PMID:2277065 | PMID:2534378 | PMID:2983233 | PMID:3194193 | PMID:3839241 | PMID:7628699 | PMID:7797078 | PMID:8136524 |
PMID:8268655 | PMID:8404542 | PMID:8406508 | PMID:8689583 | PMID:9400381 | PMID:9422794 | PMID:9489771 | PMID:9500550 | PMID:9758703 | PMID:10021345 | PMID:10220415 | PMID:10349636 |
PMID:10399364 | PMID:10679931 | PMID:11042159 | PMID:11076861 | PMID:11238910 | PMID:11668599 | PMID:12140191 | PMID:12477932 | PMID:14727813 | PMID:15472070 | PMID:15489334 | PMID:15513965 |
PMID:15687484 | PMID:16141072 | PMID:16141073 | PMID:16494860 | PMID:16649168 | PMID:17289022 | PMID:17468400 | PMID:17559643 | PMID:18554416 | PMID:19035347 | PMID:21267068 | PMID:21278135 |
PMID:21873635 | PMID:22589735 | PMID:22972626 | PMID:23063798 | PMID:23375831 | PMID:24335282 | PMID:24457600 | PMID:24835278 | PMID:25172430 | PMID:25986147 | PMID:28346476 | PMID:29509905 |
PMID:30787001 | PMID:31024170 | PMID:31923383 | PMID:32094117 | PMID:37794006 |
Myl3 (Mus musculus - house mouse) |
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MYL3 (Homo sapiens - human) |
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Myl3 (Rattus norvegicus - Norway rat) |
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Myl3 (Chinchilla lanigera - long-tailed chinchilla) |
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MYL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MYL3 (Canis lupus familiaris - dog) |
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Myl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MYL3 (Sus scrofa - pig) |
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MYL3 (Chlorocebus sabaeus - green monkey) |
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Myl3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Myl3
163 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 |
D9Mit37 |
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RH138771 |
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RefSeq Transcripts | NM_001364484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_010859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC139378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK002312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV015350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC061222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X12972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X53489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X67685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000079784 ⟹ ENSMUSP00000078715 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000124267 ⟹ ENSMUSP00000142424 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000136695 ⟹ ENSMUSP00000142791 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000153142 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000200011 ⟹ ENSMUSP00000142530 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001364484 ⟹ NP_001351413 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_010859 ⟹ NP_034989 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001351413 | (Get FASTA) | NCBI Sequence Viewer |
NP_034989 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH61222 | (Get FASTA) | NCBI Sequence Viewer |
BAB22006 | (Get FASTA) | NCBI Sequence Viewer | |
BAB27672 | (Get FASTA) | NCBI Sequence Viewer | |
BAE27552 | (Get FASTA) | NCBI Sequence Viewer | |
CAA31415 | (Get FASTA) | NCBI Sequence Viewer | |
CAA47917 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09001 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09002 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000078715 | ||
ENSMUSP00000078715.8 | |||
ENSMUSP00000142424.2 | |||
ENSMUSP00000142530 | |||
ENSMUSP00000142530.2 | |||
ENSMUSP00000142791.2 | |||
GenBank Protein | P09542 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_034989 ⟸ NM_010859 |
- UniProtKB: | Q3UIF4 (UniProtKB/Swiss-Prot), Q9CQZ2 (UniProtKB/Swiss-Prot), P09542 (UniProtKB/Swiss-Prot), A0A0G2JDW2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001351413 ⟸ NM_001364484 |
- UniProtKB: | Q3UIF4 (UniProtKB/Swiss-Prot), P09542 (UniProtKB/Swiss-Prot), Q9CQZ2 (UniProtKB/Swiss-Prot), A0A0G2JDW2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000078715 ⟸ ENSMUST00000079784 |
RefSeq Acc Id: | ENSMUSP00000142424 ⟸ ENSMUST00000124267 |
RefSeq Acc Id: | ENSMUSP00000142791 ⟸ ENSMUST00000136695 |
RefSeq Acc Id: | ENSMUSP00000142530 ⟸ ENSMUST00000200011 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P09542-F1-model_v2 | AlphaFold | P09542 | 1-204 | view protein structure |
RGD ID: | 6844840 | ||||||||
Promoter ID: | MM_KWN:58933 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | ES_Cell | ||||||||
Transcripts: | OTTMUST00000039826 | ||||||||
Position: |
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RGD ID: | 6844846 | ||||||||
Promoter ID: | MM_KWN:58935 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000039829 | ||||||||
Position: |
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RGD ID: | 8671068 | ||||||||
Promoter ID: | EPDNEW_M13541 | ||||||||
Type: | initiation region | ||||||||
Name: | Myl3_1 | ||||||||
Description: | Mus musculus myosin, light polypeptide 3 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:97268 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000059741 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000079784 | ENTREZGENE |
ENSMUST00000079784.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000124267.8 | UniProtKB/TrEMBL | |
ENSMUST00000136695.3 | UniProtKB/TrEMBL | |
ENSMUST00000200011 | ENTREZGENE | |
ENSMUST00000200011.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | EF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | EF-hand-dom_pair | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_hand_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:17897 | UniProtKB/Swiss-Prot |
MGD | MGI:97268 | ENTREZGENE |
NCBI Gene | 17897 | ENTREZGENE |
PANTHER | MYOSIN LIGHT CHAIN 1, 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MYOSIN LIGHT CHAIN 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Myl3 | PhenoGen |
PROSITE | EF_HAND_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47473 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2JDM3_MOUSE | UniProtKB/TrEMBL |
A0A0G2JDW2 | ENTREZGENE, UniProtKB/TrEMBL | |
MYL3_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q3UIF4 | ENTREZGENE | |
Q61935_MOUSE | UniProtKB/TrEMBL | |
Q9CQZ2 | ENTREZGENE | |
UniProt Secondary | Q3UIF4 | UniProtKB/Swiss-Prot |
Q9CQZ2 | UniProtKB/Swiss-Prot |