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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | spondyloepimetaphyseal dysplasia with joint laxity type 3 | | ISO | RGD:1349809 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | spondyloepimetaphyseal dysplasia with joint laxity type 3 | | ISO | RGD:1349809 | 7240710 | | OMIM | | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
PMID:8743579 | PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:16141072 |
PMID:16141073 | PMID:17967808 | PMID:18799693 | PMID:21267068 | PMID:21565611 | PMID:21873635 |
Exoc6b (Mus musculus - house mouse) |
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EXOC6B (Homo sapiens - human) |
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Exoc6b (Rattus norvegicus - Norway rat) |
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Exoc6b (Chinchilla lanigera - long-tailed chinchilla) |
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EXOC6B (Pan paniscus - bonobo/pygmy chimpanzee) |
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EXOC6B (Canis lupus familiaris - dog) |
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Exoc6b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EXOC6B (Sus scrofa - pig) |
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EXOC6B (Chlorocebus sabaeus - African green monkey) |
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Exoc6b (Heterocephalus glaber - naked mole-rat) |
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BB456356 |
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AI182275 |
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RH124437 |
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UniSTS:235476 |
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UniSTS:235478 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
RefSeq Acc Id: | ENSMUST00000046334 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000051531 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000160197 ⟹ ENSMUSP00000125312 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000160783 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000161443 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162786 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162821 ⟹ ENSMUSP00000124512 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000204011 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_177077 ⟹ NP_796051 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006506728 ⟹ XP_006506791 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006506729 ⟹ XP_006506792 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011241500 ⟹ XP_011239802 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017321822 ⟹ XP_017177311 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036152390 ⟹ XP_036008283 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_036152391 ⟹ XP_036008284 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_036152392 ⟹ XP_036008285 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_036152393 ⟹ XP_036008286 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_796051 ⟸ NM_177077 |
- UniProtKB: | A6H5Z3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006506791 ⟸ XM_006506728 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006506792 ⟸ XM_006506729 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_011239802 ⟸ XM_011241500 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_017177311 ⟸ XM_017321822 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000125312 ⟸ ENSMUST00000160197 |
RefSeq Acc Id: | ENSMUSP00000124512 ⟸ ENSMUST00000162821 |
RefSeq Acc Id: | XP_036008283 ⟸ XM_036152390 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_036008284 ⟸ XM_036152391 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_036008286 ⟸ XM_036152393 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_036008285 ⟸ XM_036152392 |
- Peptide Label: | isoform X4 |
RGD ID: | 6839312 | ||||||||
Promoter ID: | MM_KWN:46660 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000046334, ENSMUST00000051531, ENSMUST00000101224, UC009CPA.1, UC009CPC.1 | ||||||||
Position: |
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RGD ID: | 6890206 | ||||||||
Promoter ID: | EPDNEW_M8554 | ||||||||
Type: | initiation region | ||||||||
Name: | Exoc6b_1 | ||||||||
Description: | Mus musculus exocyst complex component 6B , 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:1923164 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000033769 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000124512 | UniProtKB/TrEMBL |
ENSMUSP00000125312 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSMUST00000160197 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000162821 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.357.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.58.670 | UniProtKB/TrEMBL | |
InterPro | EXOC6/Sec15 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EXOC6/Sec15_C_dom1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EXOC6/Sec15_C_dom2 | UniProtKB/TrEMBL | |
KEGG Report | mmu:75914 | UniProtKB/Swiss-Prot |
MGD | MGI:1923164 | ENTREZGENE |
NCBI Gene | 75914 | ENTREZGENE |
PANTHER | PTHR12702 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Sec15 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Exoc6b | PhenoGen |
PIRSF | Sec15 | UniProtKB/Swiss-Prot |
UniProt | A6H5Z3 | ENTREZGENE |
E0CY34_MOUSE | UniProtKB/TrEMBL | |
EXC6B_MOUSE | UniProtKB/Swiss-Prot | |
Q5DU10_MOUSE | UniProtKB/TrEMBL | |
Q6PCN5_MOUSE | UniProtKB/TrEMBL | |
Q8C1X1_MOUSE | UniProtKB/TrEMBL | |
Q8C203_MOUSE | UniProtKB/TrEMBL | |
Q8K2N8_MOUSE | UniProtKB/TrEMBL | |
Q9D4R7_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q3UN15 | UniProtKB/Swiss-Prot |