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. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
3. | 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. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Database resources of the National Center for Biotechnology Information. | Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6. |
PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11544199 | PMID:12477932 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:15489334 | PMID:15782199 |
PMID:16141072 | PMID:16141073 | PMID:17967808 | PMID:18799693 | PMID:19687302 | PMID:21873635 | PMID:23441919 | PMID:23843960 | PMID:24194600 | PMID:25186462 | PMID:26488883 | PMID:28378742 |
Dse (Mus musculus - house mouse) |
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DSE (Homo sapiens - human) |
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Dse (Rattus norvegicus - Norway rat) |
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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
1933 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 |
D10Mit252 |
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AI480506 |
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UniSTS:236325 |
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UniSTS:236327 |
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RefSeq Transcripts | NM_172508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006512651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006512652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011243156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC113059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC153959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK031737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK045065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK153326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK201451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK202322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK203692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ269977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000048010 ⟹ ENSMUSP00000040074 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000215547 ⟹ ENSMUSP00000149947 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000216194 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000216774 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000217051 ⟹ ENSMUSP00000150789 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_172508 ⟹ NP_766096 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512651 ⟹ XP_006512714 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512652 ⟹ XP_006512715 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011243156 ⟹ XP_011241458 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155722 ⟹ XP_036011615 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155723 ⟹ XP_036011616 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_766096 | (Get FASTA) | NCBI Sequence Viewer |
XP_006512714 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006512715 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011241458 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011615 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011616 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH53095 | (Get FASTA) | NCBI Sequence Viewer |
BAC32205 | (Get FASTA) | NCBI Sequence Viewer | |
BAE31905 | (Get FASTA) | NCBI Sequence Viewer | |
EDL04884 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000040074 | ||
ENSMUSP00000040074.8 | |||
ENSMUSP00000149947.2 | |||
ENSMUSP00000150789.2 | |||
GenBank Protein | Q8BLI4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_766096 ⟸ NM_172508 |
- Peptide Label: | precursor |
- UniProtKB: | Q3U620 (UniProtKB/Swiss-Prot), Q8BLI4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006512714 ⟸ XM_006512651 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q3U620 (UniProtKB/Swiss-Prot), Q8BLI4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006512715 ⟸ XM_006512652 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011241458 ⟸ XM_011243156 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q3U620 (UniProtKB/Swiss-Prot), Q8BLI4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000150789 ⟸ ENSMUST00000217051 |
RefSeq Acc Id: | ENSMUSP00000040074 ⟸ ENSMUST00000048010 |
RefSeq Acc Id: | ENSMUSP00000149947 ⟸ ENSMUST00000215547 |
RefSeq Acc Id: | XP_036011616 ⟸ XM_036155723 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_036011615 ⟸ XM_036155722 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8BLI4 (UniProtKB/Swiss-Prot), Q3U620 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8BLI4-F1-model_v2 | AlphaFold | Q8BLI4 | 1-958 | view protein structure |
RGD ID: | 6819210 | ||||||||
Promoter ID: | MM_KWN:3889 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Liver, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000048010 | ||||||||
Position: |
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RGD ID: | 8671776 | ||||||||
Promoter ID: | EPDNEW_M13919 | ||||||||
Type: | initiation region | ||||||||
Name: | Dse_1 | ||||||||
Description: | Mus musculus dermatan sulfate epimerase , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M13920 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8671778 | ||||||||
Promoter ID: | EPDNEW_M13920 | ||||||||
Type: | initiation region | ||||||||
Name: | Dse_2 | ||||||||
Description: | Mus musculus dermatan sulfate epimerase , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M13919 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2443455 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000039497 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000048010 | ENTREZGENE |
ENSMUST00000048010.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000215547.2 | UniProtKB/TrEMBL | |
ENSMUST00000217051.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.50.10.100 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.70.98.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Chondroitin_lyas | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HepII_N | UniProtKB/TrEMBL | |
KEGG Report | mmu:212898 | UniProtKB/Swiss-Prot |
MGD | MGI:2443455 | ENTREZGENE |
NCBI Gene | 212898 | ENTREZGENE |
PANTHER | DERMATAN-SULFATE EPIMERASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR15532 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF4962 | UniProtKB/TrEMBL |
PhenoGen | Dse | PhenoGen |
Superfamily-SCOP | SSF48230 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1L1SSJ9_MOUSE | UniProtKB/TrEMBL |
A0A1L1SUI1_MOUSE | UniProtKB/TrEMBL | |
DSE_MOUSE | UniProtKB/Swiss-Prot | |
Q3U620 | ENTREZGENE | |
Q8BLI4 | ENTREZGENE | |
UniProt Secondary | Q3U620 | UniProtKB/Swiss-Prot |