Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ehlers-Danlos syndrome musculocontractural type 2 | | ISO | DSE (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) | Ehlers-Danlos syndrome musculocontractural type 2 | | ISO | DSE (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Dse (Rattus norvegicus - Norway rat) |
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DSE (Homo sapiens - human) |
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Dse (Mus musculus - house mouse) |
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Dse (Chinchilla lanigera - long-tailed chinchilla) |
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DSE (Pan paniscus - bonobo/pygmy chimpanzee) |
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DSE (Canis lupus familiaris - dog) |
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Dse (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DSE (Sus scrofa - pig) |
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DSE (Chlorocebus sabaeus - green monkey) |
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Dse (Heterocephalus glaber - naked mole-rat) |
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Variants in Dse
175 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 |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 20 | 15 | 12 | 13 | 12 | 1 | 1 | 6 | 23 | 32 | 11 | 1 | |
Low | 3 | 23 | 42 | 29 | 6 | 29 | 7 | 10 | 68 | 12 | 9 | 7 | |
Below cutoff |
RefSeq Transcripts | NM_001108933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006256382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008772900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008772901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC097781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC114045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC168891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000001093 ⟹ ENSRNOP00000001093 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000088287 ⟹ ENSRNOP00000068909 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001108933 ⟹ NP_001102403 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008772900 ⟹ XP_008771122 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017601702 ⟹ XP_017457191 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017601704 ⟹ XP_017457193 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039098904 ⟹ XP_038954832 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039098905 ⟹ XP_038954833 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001102403 | (Get FASTA) | NCBI Sequence Viewer |
XP_008771122 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017457191 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017457193 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954832 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954833 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI68891 | (Get FASTA) | NCBI Sequence Viewer |
EDL93093 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000001093 | ||
ENSRNOP00000001093.5 | |||
ENSRNOP00000068909.2 |
RefSeq Acc Id: | NP_001102403 ⟸ NM_001108933 |
- Peptide Label: | precursor |
- UniProtKB: | B5DF19 (UniProtKB/TrEMBL), A6K3S9 (UniProtKB/TrEMBL), A0A0G2JU02 (UniProtKB/TrEMBL), F7EHL3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008771122 ⟸ XM_008772900 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2JU02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017457193 ⟸ XM_017601704 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_017457191 ⟸ XM_017601702 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0G2JU02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000068909 ⟸ ENSRNOT00000088287 |
RefSeq Acc Id: | ENSRNOP00000001093 ⟸ ENSRNOT00000001093 |
RefSeq Acc Id: | XP_038954832 ⟸ XM_039098904 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B5DF19 (UniProtKB/TrEMBL), A6K3S9 (UniProtKB/TrEMBL), A0A0G2JU02 (UniProtKB/TrEMBL), F7EHL3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038954833 ⟸ XM_039098905 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0G2JU02 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B5DF19-F1-model_v2 | AlphaFold | B5DF19 | 1-958 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701578 | ||||||||
Promoter ID: | EPDNEW_R12101 | ||||||||
Type: | initiation region | ||||||||
Name: | Dse_1 | ||||||||
Description: | dermatan sulfate epimerase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R12102 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13701579 | ||||||||
Promoter ID: | EPDNEW_R12102 | ||||||||
Type: | initiation region | ||||||||
Name: | Dse_2 | ||||||||
Description: | dermatan sulfate epimerase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R12101 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1305079 | AgrOrtholog |
BioCyc Gene | G2FUF-3791 | BioCyc |
BioCyc Pathway | PWY-6568 [dermatan sulfate biosynthesis] | BioCyc |
BioCyc Pathway Image | PWY-6568 | BioCyc |
Ensembl Genes | ENSRNOG00000000824 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000001093 | ENTREZGENE |
ENSRNOT00000001093.7 | UniProtKB/TrEMBL | |
ENSRNOT00000088287.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.50.10.100 | UniProtKB/TrEMBL |
2.70.98.70 | UniProtKB/TrEMBL | |
InterPro | Chondroitin_lyas | UniProtKB/TrEMBL |
KEGG Report | rno:365583 | UniProtKB/TrEMBL |
NCBI Gene | 365583 | ENTREZGENE |
PANTHER | DERMATAN-SULFATE EPIMERASE | UniProtKB/TrEMBL |
PTHR15532 | UniProtKB/TrEMBL | |
PhenoGen | Dse | PhenoGen |
RatGTEx | ENSRNOG00000000824 | RatGTEx |
Superfamily-SCOP | SSF48230 | UniProtKB/TrEMBL |
UniProt | A0A0G2JU02 | ENTREZGENE, UniProtKB/TrEMBL |
A6K3S9 | ENTREZGENE, UniProtKB/TrEMBL | |
B5DF19 | ENTREZGENE | |
F7EHL3 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | B5DF19 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-03-07 | Dse | dermatan sulfate epimerase | Sart2_predicted | squamous cell carcinoma antigen recognized by T cells 2 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-01-12 | Sart2_predicted | squamous cell carcinoma antigen recognized by T cells 2 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |