Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures | | ISO | EMC10 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures | | ISO | EMC10 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12904583 | PMID:14610273 | PMID:15782199 | PMID:16141072 | PMID:16141073 |
PMID:18554416 | PMID:18799693 | PMID:21677750 | PMID:21873635 | PMID:23332760 | PMID:24194600 | PMID:25849460 | PMID:27626380 | PMID:28696314 | PMID:28931551 | PMID:29083321 | PMID:29242231 |
PMID:29659949 | PMID:30550785 | PMID:36077468 | PMID:36417873 | PMID:36443308 | PMID:38355793 |
Emc10 (Mus musculus - house mouse) |
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EMC10 (Homo sapiens - human) |
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Emc10 (Rattus norvegicus - Norway rat) |
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Emc10 (Chinchilla lanigera - long-tailed chinchilla) |
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EMC10 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EMC10 (Canis lupus familiaris - dog) |
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Emc10 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EMC10 (Sus scrofa - pig) |
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EMC10 (Chlorocebus sabaeus - green monkey) |
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Emc10 (Heterocephalus glaber - naked mole-rat) |
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Variants in Emc10
199 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 |
RH135163 |
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RefSeq Transcripts | NM_001355107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_197991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006541176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030242972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_003946559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC149607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK009801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK169010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK171657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK183758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK189635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK205720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK206197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK208109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK208212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK215955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK216646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY761096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY761098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY271382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY761533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000118515 ⟹ ENSMUSP00000113141 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000118808 ⟹ ENSMUSP00000113509 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000123928 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000138328 ⟹ ENSMUSP00000116293 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000147102 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000150342 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000239015 ⟹ ENSMUSP00000159045 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001355107 ⟹ NP_001342036 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_197991 ⟹ NP_932108 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006541176 ⟹ XP_006541239 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030242972 ⟹ XP_030098832 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003946559 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001342036 | (Get FASTA) | NCBI Sequence Viewer |
NP_932108 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006541239 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030098832 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH06065 | (Get FASTA) | NCBI Sequence Viewer |
AAH20179 | (Get FASTA) | NCBI Sequence Viewer | |
AAV30544 | (Get FASTA) | NCBI Sequence Viewer | |
AAV30546 | (Get FASTA) | NCBI Sequence Viewer | |
BAE40807 | (Get FASTA) | NCBI Sequence Viewer | |
BAE42592 | (Get FASTA) | NCBI Sequence Viewer | |
EDL22722 | (Get FASTA) | NCBI Sequence Viewer | |
EDL22723 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000113141 | ||
ENSMUSP00000113141.4 | |||
ENSMUSP00000113509 | |||
ENSMUSP00000113509.4 | |||
ENSMUSP00000116293 | |||
ENSMUSP00000116293.4 | |||
ENSMUSP00000159045.2 | |||
GenBank Protein | Q3TAS6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_932108 ⟸ NM_197991 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q8VCD8 (UniProtKB/Swiss-Prot), Q5UCC5 (UniProtKB/Swiss-Prot), Q5UCC3 (UniProtKB/Swiss-Prot), Q3TFU1 (UniProtKB/Swiss-Prot), Q3TAS6 (UniProtKB/Swiss-Prot), Q99JJ8 (UniProtKB/Swiss-Prot), A0A0X1KG67 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006541239 ⟸ XM_006541176 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A0X1KG67 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001342036 ⟸ NM_001355107 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | A0A0X1KG67 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_030098832 ⟸ XM_030242972 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0X1KG67 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000113141 ⟸ ENSMUST00000118515 |
RefSeq Acc Id: | ENSMUSP00000113509 ⟸ ENSMUST00000118808 |
RefSeq Acc Id: | ENSMUSP00000116293 ⟸ ENSMUST00000138328 |
RefSeq Acc Id: | ENSMUSP00000159045 ⟸ ENSMUST00000239015 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q3TAS6-F1-model_v2 | AlphaFold | Q3TAS6 | 1-258 | view protein structure |
RGD ID: | 8663867 | ||||||||
Promoter ID: | EPDNEW_M9965 | ||||||||
Type: | initiation region | ||||||||
Name: | Emc10_1 | ||||||||
Description: | Mus musculus ER membrane protein complex subunit 10 , transcriptvariant 2, 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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RGD ID: | 6841122 | ||||||||
Promoter ID: | MM_KWN:50263 | ||||||||
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: | ENSMUST00000056413, ENSMUST00000085440, ENSMUST00000118808, NM_028169, OTTMUST00000079002, OTTMUST00000079003, OTTMUST00000079004, UC009GPP.1, UC009GPQ.1, UC009GPR.1, UC009GPS.1, UC009GPT.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1916933 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000008140 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000118515 | ENTREZGENE |
ENSMUST00000118515.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000118808 | ENTREZGENE | |
ENSMUST00000118808.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000138328 | ENTREZGENE | |
ENSMUST00000138328.3 | UniProtKB/TrEMBL | |
ENSMUST00000239015.2 | UniProtKB/TrEMBL | |
KEGG Report | mmu:69683 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1916933 | ENTREZGENE |
NCBI Gene | 69683 | ENTREZGENE |
PANTHER | CHROMATIN COMPLEXES SUBUNIT BAP18-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR21397:SF4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Emc10 | PhenoGen |
UniProt | A0A0X1KG67 | ENTREZGENE, UniProtKB/TrEMBL |
D3Z665_MOUSE | UniProtKB/TrEMBL | |
EMC10_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q3TFU1 | ENTREZGENE | |
Q5UCC3 | ENTREZGENE | |
Q5UCC5 | ENTREZGENE | |
Q8VCD8 | ENTREZGENE | |
Q99JJ8 | ENTREZGENE | |
UniProt Secondary | Q3TFU1 | UniProtKB/Swiss-Prot |
Q5UCC3 | UniProtKB/Swiss-Prot | |
Q5UCC5 | UniProtKB/Swiss-Prot | |
Q8VCD8 | UniProtKB/Swiss-Prot | |
Q99JJ8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2012-09-19 | Emc10 | ER membrane protein complex subunit 10 | 2310044H10Rik | RIKEN cDNA 2310044H10 gene | Symbol and/or name change | 5135510 | APPROVED |