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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pontocerebellar hypoplasia type 2E | | ISO | RGD:1605366 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pontocerebellar hypoplasia type 2E | | ISO | RGD:1605366 | 7240710 | | OMIM | | |
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1. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | MGD data from the GO Consortium |
3. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
4. | OMIM Disease Annotation Pipeline |
5. | RGD automated import pipeline |
6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:15489334 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:18511934 |
PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:23708095 | PMID:24457600 | PMID:25799061 | PMID:30409884 | PMID:32325033 | PMID:32968282 |
Vps53 (Mus musculus - house mouse) |
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VPS53 (Homo sapiens - human) |
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Vps53 (Rattus norvegicus - Norway rat) |
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Vps53 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100968477 (Pan paniscus - bonobo/pygmy chimpanzee) |
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VPS53 (Canis lupus familiaris - dog) |
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Vps53 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VPS53 (Sus scrofa - pig) |
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VPS53 (Chlorocebus sabaeus - African green monkey) |
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Vps53 (Heterocephalus glaber - naked mole-rat) |
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BB162755 |
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36.MMHAP4FRD12.seq |
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D11Mit321 |
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D11Mit7 |
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D11Bhm25 |
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D11Bhm27 |
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D11Bhm28 |
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D11Bhm26 |
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D10Chm174 |
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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 Transcripts | NM_001364738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_026664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_157296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK008026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK009586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK009727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK009818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK009970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK013422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK019139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK019408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK033495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK049259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK149966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK158054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK159454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK166234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK167310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK180832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK183791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK184133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK184415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK186695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK190090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK207854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK210101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK211152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK211629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK211683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK215453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK217105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK219065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL591129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA325661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000056601 ⟹ ENSMUSP00000061317 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000094015 ⟹ ENSMUSP00000091554 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000108419 ⟹ ENSMUSP00000104057 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000129256 ⟹ ENSMUSP00000126125 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000140886 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000141773 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000143163 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000143459 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000163878 ⟹ ENSMUSP00000128856 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000166084 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000166436 ⟹ ENSMUSP00000131387 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000166752 ⟹ ENSMUSP00000129159 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000167114 ⟹ ENSMUSP00000131663 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000169734 ⟹ ENSMUSP00000130499 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000170143 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000170730 ⟹ ENSMUSP00000127364 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001364738 ⟹ NP_001351667 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_026664 ⟹ NP_080940 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_157296 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001351667 | (Get FASTA) | NCBI Sequence Viewer |
NP_080940 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH34371 | (Get FASTA) | NCBI Sequence Viewer |
BAB26620 | (Get FASTA) | NCBI Sequence Viewer | |
BAB31707 | (Get FASTA) | NCBI Sequence Viewer | |
BAC28318 | (Get FASTA) | NCBI Sequence Viewer | |
BAC33641 | (Get FASTA) | NCBI Sequence Viewer | |
BAE29200 | (Get FASTA) | NCBI Sequence Viewer | |
BAE29229 | (Get FASTA) | NCBI Sequence Viewer | |
BAE35097 | (Get FASTA) | NCBI Sequence Viewer | |
BAE38649 | (Get FASTA) | NCBI Sequence Viewer | |
BAE39414 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12847 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12848 | (Get FASTA) | NCBI Sequence Viewer | |
EDL12849 | (Get FASTA) | NCBI Sequence Viewer | |
Q8CCB4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_080940 ⟸ NM_026664 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8CCB4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001351667 ⟸ NM_001364738 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | ENSMUSP00000128856 ⟸ ENSMUST00000163878 |
RefSeq Acc Id: | ENSMUSP00000104057 ⟸ ENSMUST00000108419 |
RefSeq Acc Id: | ENSMUSP00000131387 ⟸ ENSMUST00000166436 |
RefSeq Acc Id: | ENSMUSP00000129159 ⟸ ENSMUST00000166752 |
RefSeq Acc Id: | ENSMUSP00000127364 ⟸ ENSMUST00000170730 |
RefSeq Acc Id: | ENSMUSP00000126125 ⟸ ENSMUST00000129256 |
RefSeq Acc Id: | ENSMUSP00000061317 ⟸ ENSMUST00000056601 |
RefSeq Acc Id: | ENSMUSP00000091554 ⟸ ENSMUST00000094015 |
RefSeq Acc Id: | ENSMUSP00000131663 ⟸ ENSMUST00000167114 |
RefSeq Acc Id: | ENSMUSP00000130499 ⟸ ENSMUST00000169734 |
RGD ID: | 6822444 | ||||||||
Promoter ID: | MM_KWN:8550 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | MEF_B6 | ||||||||
Transcripts: | ENSMUST00000094015, OTTMUST00000014057 | ||||||||
Position: |
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RGD ID: | 6822474 | ||||||||
Promoter ID: | MM_KWN:8551 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000108419, OTTMUST00000014053, OTTMUST00000014054, OTTMUST00000014060, OTTMUST00000074144, UC007KFD.1 | ||||||||
Position: |
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RGD ID: | 8675582 | ||||||||
Promoter ID: | EPDNEW_M15822 | ||||||||
Type: | initiation region | ||||||||
Name: | Vps53_1 | ||||||||
Description: | Mus musculus VPS53 GARP complex subunit , 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:1915549 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000017288 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000061317 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUSP00000091554 | UniProtKB/TrEMBL | |
ENSMUSP00000104057 | UniProtKB/Swiss-Prot | |
ENSMUSP00000126125 | UniProtKB/TrEMBL | |
ENSMUSP00000127364 | UniProtKB/TrEMBL | |
ENSMUSP00000128856 | UniProtKB/TrEMBL | |
ENSMUSP00000129159 | UniProtKB/TrEMBL | |
ENSMUSP00000130499 | UniProtKB/TrEMBL | |
ENSMUSP00000131387 | UniProtKB/TrEMBL | |
ENSMUSP00000131663 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000056601 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000094015 | UniProtKB/TrEMBL | |
ENSMUST00000108419 | UniProtKB/Swiss-Prot | |
ENSMUST00000129256 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUST00000140886 | ENTREZGENE | |
ENSMUST00000163878 | UniProtKB/TrEMBL | |
ENSMUST00000166436 | UniProtKB/TrEMBL | |
ENSMUST00000166752 | UniProtKB/TrEMBL | |
ENSMUST00000167114 | UniProtKB/TrEMBL | |
ENSMUST00000169734 | UniProtKB/TrEMBL | |
ENSMUST00000170730 | UniProtKB/TrEMBL | |
InterPro | Vps53 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Vps53_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:68299 | UniProtKB/Swiss-Prot |
MGD | MGI:1915549 | ENTREZGENE |
NCBI Gene | 68299 | ENTREZGENE |
PANTHER | PTHR12820 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Vps53_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Vps53 | PhenoGen |
UniProt | E9PWD1_MOUSE | UniProtKB/TrEMBL |
E9PXG9_MOUSE | UniProtKB/TrEMBL | |
E9PYD3_MOUSE | UniProtKB/TrEMBL | |
E9Q124_MOUSE | UniProtKB/TrEMBL | |
E9Q3C3_MOUSE | UniProtKB/TrEMBL | |
E9Q648_MOUSE | UniProtKB/TrEMBL | |
E9Q8C4_MOUSE | UniProtKB/TrEMBL | |
F6Z4G7_MOUSE | UniProtKB/TrEMBL | |
Q3TJT1_MOUSE | UniProtKB/TrEMBL | |
Q3TLZ3_MOUSE | UniProtKB/TrEMBL | |
Q3TX19_MOUSE | UniProtKB/TrEMBL | |
Q3UDN2_MOUSE | UniProtKB/TrEMBL | |
Q8CCB4 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q8C7U0 | UniProtKB/Swiss-Prot |
Q8CIA1 | UniProtKB/Swiss-Prot | |
Q9CX82 | UniProtKB/Swiss-Prot | |
Q9D6T7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-21 | Vps53 | VPS53 GARP complex subunit | vacuolar protein sorting 53 (yeast) | Symbol and/or name change | 5135510 | APPROVED |