Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Emery-Dreifuss muscular dystrophy | | ISO | SUN1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Emery-Dreifuss muscular dystrophy | | ISO | SUN1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Emery-Dreifuss muscular dystrophy | | ISO | SUN1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 and PMID:28492532 | genetic disease | | ISO | SUN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | X-linked Emery-Dreifuss muscular dystrophy 1 | | ISO | SUN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy more ... | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X. | Bray JD, etal., Genomics 2002 Jun;79(6):799-808. |
| 2. | Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies. | Chen CY, etal., Cell. 2012 Apr 27;149(3):565-77. doi: 10.1016/j.cell.2012.01.059. |
| 3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 5. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
| 6. | 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. |
| 7. | The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope. | Padmakumar VC, etal., J Cell Sci 2005 Aug 1;118(Pt 15):3419-30. |
| 8. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 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 |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10725249 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11544199 | PMID:11593002 | PMID:12466305 | PMID:12477932 | PMID:12904583 | PMID:14610273 |
| PMID:15489334 | PMID:15741177 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16380439 | PMID:16648470 | PMID:17132086 | PMID:17543860 | PMID:17967808 | PMID:18799693 | PMID:18845190 |
| PMID:19211677 | PMID:19509342 | PMID:19843581 | PMID:19874786 | PMID:19933576 | PMID:20108321 | PMID:20711465 | PMID:21177258 | PMID:21327095 | PMID:21677750 | PMID:21873635 | PMID:22826121 |
| PMID:22863315 | PMID:23071752 | PMID:23318132 | PMID:23348741 | PMID:24062341 | PMID:24413433 | PMID:24457600 | PMID:24586178 | PMID:24589552 | PMID:24797635 | PMID:24885367 | PMID:25380821 |
| PMID:25892231 | PMID:25963820 | PMID:26035387 | PMID:26158450 | PMID:26548954 | PMID:26842404 | PMID:28031483 | PMID:28378742 | PMID:28533284 | PMID:28595999 | PMID:28966089 | PMID:29141207 |
| PMID:29868845 | PMID:29878215 | PMID:30282816 | PMID:30373893 | PMID:30718482 | PMID:31350280 | PMID:31686651 | PMID:31935926 | PMID:32290105 | PMID:32554809 | PMID:32560809 | PMID:33686165 |
| PMID:33779546 | PMID:34039995 | PMID:34354059 | PMID:36417873 | PMID:36989130 | PMID:37067297 | PMID:37828059 |
Genomics
Comparative Map Data
| Sun1 (Mus musculus - house mouse) |
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| SUN1 (Homo sapiens - human) |
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| Sun1 (Rattus norvegicus - Norway rat) |
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| Sun1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SUN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SUN1 (Canis lupus familiaris - dog) |
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| Sun1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SUN1 (Sus scrofa - pig) |
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| SUN1 (Chlorocebus sabaeus - green monkey) |
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| Sun1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Sun1
1389 total Variants 
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