Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Syne4 | Rat | autosomal recessive nonsyndromic deafness 76 | | ISO | SYNE4 (Homo sapiens) | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Syne4 | Rat | autosomal recessive nonsyndromic deafness 76 | | ISO | SYNE4 (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. | GOA pipeline | RGD automated data pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| Syne4 (Rattus norvegicus - Norway rat) |
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| SYNE4 (Homo sapiens - human) |
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| Syne4 (Mus musculus - house mouse) |
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| Syne4 (Chinchilla lanigera - long-tailed chinchilla) |
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| SYNE4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SYNE4 (Canis lupus familiaris - dog) |
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| Syne4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SYNE4 (Sus scrofa - pig) |
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| SYNE4 (Chlorocebus sabaeus - green monkey) |
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| Syne4 (Rattus rattus - black rat) |
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Variants in Syne4
67 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 |
| RH127933 |
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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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| 19 | 1 | 30 | 108 | 68 | 60 | 36 | 74 | 36 | 12 | 249 | 138 | 11 | 80 | 56 | 70 | 24 | 17 | 17 |
| Ensembl Acc Id: | ENSRNOT00000028265 ⟹ ENSRNOP00000028265 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000051422 ⟹ ENSRNOP00000044396 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000090545 ⟹ ENSRNOP00000069974 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001009283 ⟹ NP_001009283 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_001415792 ⟹ NP_001402721 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_008759243 ⟹ XP_008757465 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001009283 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001402721 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008757465 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH88237 | (Get FASTA) | NCBI Sequence Viewer |
| EDM07771 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000044396.2 | ||
| GenBank Protein | Q5M844 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001009283 ⟸ NM_001009283 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q5M844 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| RefSeq Acc Id: | XP_008757465 ⟸ XM_008759243 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2JWQ6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000028265 ⟸ ENSRNOT00000028265 |
| Ensembl Acc Id: | ENSRNOP00000069974 ⟸ ENSRNOT00000090545 |
| Ensembl Acc Id: | ENSRNOP00000044396 ⟸ ENSRNOT00000051422 |
| RefSeq Acc Id: | NP_001402721 ⟸ NM_001415792 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | A0A8L2QGC8 (UniProtKB/TrEMBL), A6J9W3 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q5M844-F1-model_v2 | AlphaFold | Q5M844 | 1-340 | 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:1304580 | AgrOrtholog |
| BioCyc Gene | G2FUF-60124 | BioCyc |
| Ensembl Genes | ENSRNOG00000020830 | Ensembl |
| ENSRNOG00000049277 | Ensembl, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENSRNOT00000051422.4 | UniProtKB/Swiss-Prot |
| IMAGE_CLONE | IMAGE:7325652 | IMAGE-MGC_LOAD |
| InterPro | KASH | UniProtKB/Swiss-Prot |
| SYNE4 | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:292781 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:109014 | IMAGE-MGC_LOAD |
| NCBI Gene | 292781 | ENTREZGENE |
| PANTHER | NESPRIN-4 | UniProtKB/Swiss-Prot |
| PTHR21640 | UniProtKB/Swiss-Prot | |
| Pfam | KASH | UniProtKB/Swiss-Prot |
| PhenoGen | Syne4 | PhenoGen |
| PROSITE | KASH | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000020830 | RatGTEx |
| ENSRNOG00000049277 | RatGTEx | |
| SMART | KASH | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | Spectrin repeat | UniProtKB/Swiss-Prot |
| UniProt | A0A0G2JWQ6 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8L2QGC8 | ENTREZGENE | |
| A6J9W3 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q5M844 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Syne4 | spectrin repeat containing nuclear envelope family member 4 | LOC108348128 | nesprin-4 | Data merged from RGD:11504732 | 737654 | PROVISIONAL |
| 2017-06-27 | Syne4 | spectrin repeat containing nuclear envelope family member 4 | Syne4l1 | spectrin repeat containing, nuclear envelope family member 4-like 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2017-06-27 | Syne4l1 | spectrin repeat containing, nuclear envelope family member 4-like 1 | Syne4 | spectrin repeat containing, nuclear envelope family member 4 | Data merged from RGD:6489870 | 737654 | PROVISIONAL |
| 2016-08-02 | LOC108348128 | nesprin-4 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2015-06-25 | Syne4l1 | spectrin repeat containing, nuclear envelope family member 4-like 1 | Syne4 | spectrin repeat containing, nuclear envelope family member 4 | Name and Symbol changed | 629549 | APPROVED |
| 2015-06-25 | Syne4 | spectrin repeat containing, nuclear envelope family member 4 | Syne4 | spectrin repeat containing, nuclear envelope family member 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-10-10 | Syne4 | spectrin repeat containing, nuclear envelope family member 4 | RGD1304580 | similar to Hypothetical protein MGC38513 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-05 | LOC100911963 | nesprin-4-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2005-12-06 | RGD1304580 | similar to Hypothetical protein MGC38513 | RGD1304580_predicted | similar to Hypothetical protein MGC38513 (predicted) | Symbol and Name updated | 1559027 | APPROVED |
| 2005-01-20 | RGD1304580_predicted | similar to Hypothetical protein MGC38513 (predicted) | LOC292781_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
| 2005-01-12 | LOC292781_predicted | similar to Hypothetical protein MGC38513 (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |