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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | visceral heterotaxy | | ISS | RGD:1344036 | 13592920 | OMIM:306955 more ... | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | visceral heterotaxy | | ISS | RGD:1344036 | 13592920 | OMIM:306955 more ... | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11125038 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:15489334 | PMID:16141072 | PMID:16141073 | PMID:21267068 | PMID:21677750 |
PMID:29539633 | PMID:33347437 | PMID:34124066 |
Cfap53 (Mus musculus - house mouse) |
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CFAP53 (Homo sapiens - human) |
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Cfap53 (Rattus norvegicus - Norway rat) |
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Cfap53 (Chinchilla lanigera - long-tailed chinchilla) |
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CFAP53 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CFAP53 (Canis lupus familiaris - dog) |
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Cfap53 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CFAP53 (Sus scrofa - pig) |
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CFAP53 (Chlorocebus sabaeus - green monkey) |
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Cfap53 (Heterocephalus glaber - naked mole-rat) |
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AA763521 |
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Fabp5 |
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AF072240 |
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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_028948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_029424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011247012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC124432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC147367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC147992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK016821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC099500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC125572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC125574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN835862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000114895 ⟹ ENSMUSP00000110545 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000176435 ⟹ ENSMUSP00000134908 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000176766 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000177101 ⟹ ENSMUSP00000135452 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000177407 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_028948 ⟹ NP_083224 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_029424 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247012 ⟹ XP_011245314 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_083224 | (Get FASTA) | NCBI Sequence Viewer |
XP_011245314 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH99500 | (Get FASTA) | NCBI Sequence Viewer |
AAI25573 | (Get FASTA) | NCBI Sequence Viewer | |
AAI25575 | (Get FASTA) | NCBI Sequence Viewer | |
BAB30450 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36869 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09526 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09527 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09528 | (Get FASTA) | NCBI Sequence Viewer | |
Q9D439 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_083224 ⟸ NM_028948 |
- UniProtKB: | Q9D439 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011245314 ⟸ XM_011247012 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9D439 (UniProtKB/Swiss-Prot), Q059Q0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000135452 ⟸ ENSMUST00000177101 |
RefSeq Acc Id: | ENSMUSP00000110545 ⟸ ENSMUST00000114895 |
RefSeq Acc Id: | ENSMUSP00000134908 ⟸ ENSMUST00000176435 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9D439-F1-model_v2 | AlphaFold | Q9D439 | 1-514 | view protein structure |
RGD ID: | 13678158 | ||||||||
Promoter ID: | EPDNEW_M23228 | ||||||||
Type: | initiation region | ||||||||
Name: | Cfap53_1 | ||||||||
Description: | Mus musculus cilia and flagella associated protein 53 , transcriptvariant 1, 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: | 6829132 | ||||||||
Promoter ID: | MM_KWN:25683 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Kidney, Liver, Lung, MEF_B6 | ||||||||
Transcripts: | NM_028948, NR_029424 | ||||||||
Position: |
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RGD ID: | 6829134 | ||||||||
Promoter ID: | MM_KWN:25684 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Kidney, Lung, MEF_B6 | ||||||||
Transcripts: | NM_028948_CCDC11, UC008FPN.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1921703 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000035394 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000110545 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUSP00000134908.2 | UniProtKB/TrEMBL | |
ENSMUSP00000135452.2 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000114895 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000176435 | ENTREZGENE | |
ENSMUST00000176435.8 | UniProtKB/TrEMBL | |
ENSMUST00000177101.8 | UniProtKB/TrEMBL | |
InterPro | CFAP53 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CFAP53/TCHP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPH_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:74453 | UniProtKB/Swiss-Prot |
MGD | MGI:1921703 | ENTREZGENE |
NCBI Gene | 74453 | ENTREZGENE |
PANTHER | PTHR31183 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31183:SF1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | TPH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Cfap53 | PhenoGen |
UniProt | CFA53_MOUSE | UniProtKB/Swiss-Prot |
H3BJA5_MOUSE | UniProtKB/TrEMBL | |
Q059Q0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3TS07_MOUSE | UniProtKB/TrEMBL | |
Q9D439 | ENTREZGENE | |
UniProt Secondary | Q4KL15 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2014-09-30 | Cfap53 | cilia and flagella associated protein 53 | Ccdc11 | coiled-coil domain containing 11 | Symbol and/or name change | 5135510 | APPROVED |