Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 88 | | ISO | ELMOD3 (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) | autosomal recessive nonsyndromic deafness 88 | | ISO | ELMOD3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
2. | 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. |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | 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:12477932 | PMID:14610273 | PMID:15489334 | PMID:15782199 | PMID:16033648 | PMID:16141072 | PMID:16141073 |
PMID:21267068 | PMID:21873635 | PMID:22177965 | PMID:23375831 | PMID:31628468 | PMID:34321999 | PMID:34818063 |
Elmod3 (Mus musculus - house mouse) |
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ELMOD3 (Homo sapiens - human) |
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Elmod3 (Rattus norvegicus - Norway rat) |
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Elmod3 (Chinchilla lanigera - long-tailed chinchilla) |
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ELMOD3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ELMOD3 (Canis lupus familiaris - dog) |
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Elmod3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ELMOD3 (Sus scrofa - pig) |
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ELMOD3 (Chlorocebus sabaeus - green monkey) |
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Elmod3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Elmod3
1294 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 |
BE198920 |
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AI844780 |
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Rbed1 |
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RefSeq Transcripts | NM_001253692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001364553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001364554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_144917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030255333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030255334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030255335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC125039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC154002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK049155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK084010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK164974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK213439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE944793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU614609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY074266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000070990 ⟹ ENSMUSP00000067768 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000114069 ⟹ ENSMUSP00000109703 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000140825 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000141833 ⟹ ENSMUSP00000145544 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000148108 ⟹ ENSMUSP00000145907 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000152705 ⟹ ENSMUSP00000116448 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001253692 ⟹ NP_001240621 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001364553 ⟹ NP_001351482 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001364554 ⟹ NP_001351483 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_144917 ⟹ NP_659166 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030255333 ⟹ XP_030111193 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030255334 ⟹ XP_030111194 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030255335 ⟹ XP_030111195 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001240621 | (Get FASTA) | NCBI Sequence Viewer |
NP_001351482 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351483 | (Get FASTA) | NCBI Sequence Viewer | |
NP_659166 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030111193 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030111194 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030111195 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH16193 | (Get FASTA) | NCBI Sequence Viewer |
BAC33574 | (Get FASTA) | NCBI Sequence Viewer | |
BAC39096 | (Get FASTA) | NCBI Sequence Viewer | |
BAE37985 | (Get FASTA) | NCBI Sequence Viewer | |
EDK98987 | (Get FASTA) | NCBI Sequence Viewer | |
EDK98988 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000067768 | ||
ENSMUSP00000067768.2 | |||
ENSMUSP00000109703 | |||
ENSMUSP00000109703.2 | |||
ENSMUSP00000116448.2 | |||
ENSMUSP00000145544.2 | |||
ENSMUSP00000145907.2 | |||
GenBank Protein | Q91YP6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_659166 ⟸ NM_144917 |
- UniProtKB: | Q3TNV2 (UniProtKB/Swiss-Prot), Q91YP6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001240621 ⟸ NM_001253692 |
- UniProtKB: | Q3TNV2 (UniProtKB/Swiss-Prot), Q91YP6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030111195 ⟸ XM_030255335 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q91YP6 (UniProtKB/Swiss-Prot), Q3TNV2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030111194 ⟸ XM_030255334 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q91YP6 (UniProtKB/Swiss-Prot), Q3TNV2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030111193 ⟸ XM_030255333 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q91YP6 (UniProtKB/Swiss-Prot), Q3TNV2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001351482 ⟸ NM_001364553 |
- UniProtKB: | Q91YP6 (UniProtKB/Swiss-Prot), Q3TNV2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001351483 ⟸ NM_001364554 |
- UniProtKB: | Q91YP6 (UniProtKB/Swiss-Prot), Q3TNV2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSMUSP00000067768 ⟸ ENSMUST00000070990 |
RefSeq Acc Id: | ENSMUSP00000116448 ⟸ ENSMUST00000152705 |
RefSeq Acc Id: | ENSMUSP00000145907 ⟸ ENSMUST00000148108 |
RefSeq Acc Id: | ENSMUSP00000109703 ⟸ ENSMUST00000114069 |
RefSeq Acc Id: | ENSMUSP00000145544 ⟸ ENSMUST00000141833 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q91YP6-F1-model_v2 | AlphaFold | Q91YP6 | 1-381 | view protein structure |
RGD ID: | 6839223 | ||||||||
Promoter ID: | MM_KWN:46475 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney | ||||||||
Transcripts: | OTTMUST00000057465 | ||||||||
Position: |
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RGD ID: | 6839234 | ||||||||
Promoter ID: | MM_KWN:46476 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000070597, ENSMUST00000114069, OTTMUST00000057461, OTTMUST00000057463, OTTMUST00000057464, UC009CIV.1 | ||||||||
Position: |
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RGD ID: | 6890030 | ||||||||
Promoter ID: | EPDNEW_M8466 | ||||||||
Type: | initiation region | ||||||||
Name: | Elmod3_1 | ||||||||
Description: | Mus musculus ELMO/CED-12 domain containing 3 , transcript variant2, 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:2445168 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000056698 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000070990 | ENTREZGENE |
ENSMUST00000070990.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000114069 | ENTREZGENE | |
ENSMUST00000114069.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000141833.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000148108.8 | UniProtKB/TrEMBL | |
ENSMUST00000152705.3 | UniProtKB/TrEMBL | |
InterPro | ELMO_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | mmu:232089 | UniProtKB/Swiss-Prot |
MGD | MGI:2445168 | ENTREZGENE |
NCBI Gene | 232089 | ENTREZGENE |
PANTHER | ENGULFMENT AND CELL MOTILITY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12771:SF2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ELMO_CED12 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Elmod3 | PhenoGen |
PROSITE | ELMO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0U1RPA9_MOUSE | UniProtKB/TrEMBL |
D3Z5B5_MOUSE | UniProtKB/TrEMBL | |
ELMD3_MOUSE | UniProtKB/Swiss-Prot | |
Q3TNV2 | ENTREZGENE | |
Q91YP6 | ENTREZGENE | |
UniProt Secondary | Q3TNV2 | UniProtKB/Swiss-Prot |