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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Infantile Hypotonia with Psychomotor Retardation | | ISO | RGD:1348248 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Infantile Hypotonia with Psychomotor Retardation | | ISO | RGD:1348248 | 7240710 | | OMIM | | |
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1. | RGD automated import pipeline |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:15489334 | PMID:16141072 | PMID:16141073 |
PMID:21267068 |
Ccdc174 (Mus musculus - house mouse) |
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CCDC174 (Homo sapiens - human) |
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Ccdc174 (Rattus norvegicus - Norway rat) |
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Ccdc174 (Chinchilla lanigera - long-tailed chinchilla) |
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CCDC174 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CCDC174 (Canis lupus familiaris - dog) |
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Ccdc174 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CCDC174 (Sus scrofa - pig) |
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CCDC174 (Chlorocebus sabaeus - African green monkey) |
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Ccdc174 (Heterocephalus glaber - naked mole-rat) |
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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_172730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_030255347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030255348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036166055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036166056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC168852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK039818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK046253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK051852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK081505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK155581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK156259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK170492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK170727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC038871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY624970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000037783 ⟹ ENSMUSP00000049280 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000136090 ⟹ ENSMUSP00000146317 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000138868 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000139240 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000147188 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000149546 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000151378 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_172730 ⟹ NP_766318 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030255347 ⟹ XP_030111207 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030255348 ⟹ XP_030111208 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036166055 ⟹ XP_036021948 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_036166056 ⟹ XP_036021949 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_766318 | (Get FASTA) | NCBI Sequence Viewer |
XP_030111207 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030111208 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036021948 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036021949 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH16607 | (Get FASTA) | NCBI Sequence Viewer |
AAH51147 | (Get FASTA) | NCBI Sequence Viewer | |
BAC30460 | (Get FASTA) | NCBI Sequence Viewer | |
BAC38240 | (Get FASTA) | NCBI Sequence Viewer | |
BAE33645 | (Get FASTA) | NCBI Sequence Viewer | |
EDK99310 | (Get FASTA) | NCBI Sequence Viewer | |
EDK99311 | (Get FASTA) | NCBI Sequence Viewer | |
Q3U155 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_766318 ⟸ NM_172730 |
- UniProtKB: | Q3U155 (UniProtKB/Swiss-Prot), A0A0R4J0L8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030111207 ⟸ XM_030255347 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_030111208 ⟸ XM_030255348 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | ENSMUSP00000049280 ⟸ ENSMUST00000037783 |
RefSeq Acc Id: | ENSMUSP00000146317 ⟸ ENSMUST00000136090 |
RefSeq Acc Id: | XP_036021948 ⟸ XM_036166055 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_036021949 ⟸ XM_036166056 |
- Peptide Label: | isoform X2 |
RGD ID: | 6839017 | ||||||||
Promoter ID: | MM_KWN:46932 | ||||||||
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: | NM_172730, OTTMUST00000058029, OTTMUST00000058031, OTTMUST00000058032, UC009CYJ.1 | ||||||||
Position: |
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RGD ID: | 6890462 | ||||||||
Promoter ID: | EPDNEW_M8682 | ||||||||
Type: | initiation region | ||||||||
Name: | Ccdc174_1 | ||||||||
Description: | Mus musculus coiled-coil domain containing 174 , 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:2444652 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000034083 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000049280 | ENTREZGENE, UniProtKB/TrEMBL |
ENSMUSP00000146317 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000037783 | ENTREZGENE, UniProtKB/TrEMBL |
ENSMUST00000136090 | UniProtKB/TrEMBL | |
InterPro | DUF4078 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | mmu:232236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:2444652 | ENTREZGENE |
NCBI Gene | 232236 | ENTREZGENE |
Pfam | DUF4078 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Ccdc174 | PhenoGen |
UniProt | A0A0R4J0L8 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0U1RQA8_MOUSE | UniProtKB/TrEMBL | |
A0PJ68_MOUSE | UniProtKB/TrEMBL | |
CC174_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q8C4Q1_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q80XC8 | UniProtKB/Swiss-Prot |
Q8CA20 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2012-10-09 | Ccdc174 | coiled-coil domain containing 174 | C130022K22Rik | RIKEN cDNA C130022K22 gene | Symbol and/or name change | 5135510 | APPROVED |