Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant distal hereditary motor neuronopathy 6 | | ISO | FBXO38 (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 dominant distal hereditary motor neuronopathy 6 | | ISO | FBXO38 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Systematic analysis and nomenclature of mammalian F-box proteins. | Jin J, etal., Genes Dev 2004 Nov 1;18(21):2573-80. |
2. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
3. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | 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. |
6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Database resources of the National Center for Biotechnology Information. | Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6. |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:14729953 | PMID:15489334 | PMID:15782199 |
PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:16990251 | PMID:18799693 | PMID:19521500 | PMID:21873635 | PMID:24207122 | PMID:30487606 | PMID:35769260 | PMID:37938970 |
Fbxo38 (Mus musculus - house mouse) |
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FBXO38 (Homo sapiens - human) |
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Fbxo38 (Rattus norvegicus - Norway rat) |
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Fbxo38 (Chinchilla lanigera - long-tailed chinchilla) |
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FBXO38 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FBXO38 (Canis lupus familiaris - dog) |
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Fbxo38 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FBXO38 (Sus scrofa - pig) |
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FBXO38 (Chlorocebus sabaeus - green monkey) |
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Fbxo38 (Heterocephalus glaber - naked mole-rat) |
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Variants in Fbxo38
1606 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 |
AW214031 |
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AU044865 |
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Klf7 |
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RefSeq Transcripts | NM_001361088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001361089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001361090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001361091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_134136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006525501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030250263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030250264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030250265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030250266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC131714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC165083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK031096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK031347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK034761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK089046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK199813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY267463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC056348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF456006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY131284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF336982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF337019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000048688 ⟹ ENSMUSP00000047541 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235807 ⟹ ENSMUSP00000158310 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236904 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237378 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001361088 ⟹ NP_001348017 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001361089 ⟹ NP_001348018 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001361090 ⟹ NP_001348019 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001361091 ⟹ NP_001348020 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_134136 ⟹ NP_598897 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006525501 ⟹ XP_006525564 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030250263 ⟹ XP_030106123 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030250264 ⟹ XP_030106124 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030250265 ⟹ XP_030106125 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030250266 ⟹ XP_030106126 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160923 ⟹ XP_036016816 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160924 ⟹ XP_036016817 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160925 ⟹ XP_036016818 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160926 ⟹ XP_036016819 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160927 ⟹ XP_036016820 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160928 ⟹ XP_036016821 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160929 ⟹ XP_036016822 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160930 ⟹ XP_036016823 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160932 ⟹ XP_036016825 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001348017 | (Get FASTA) | NCBI Sequence Viewer |
NP_001348018 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001348019 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001348020 | (Get FASTA) | NCBI Sequence Viewer | |
NP_598897 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006525564 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030106123 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030106124 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030106125 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030106126 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016816 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016817 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016818 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016819 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016820 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016821 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016822 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016823 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016825 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH23176 | (Get FASTA) | NCBI Sequence Viewer |
AAH56348 | (Get FASTA) | NCBI Sequence Viewer | |
AAP31028 | (Get FASTA) | NCBI Sequence Viewer | |
BAC27250 | (Get FASTA) | NCBI Sequence Viewer | |
BAC27358 | (Get FASTA) | NCBI Sequence Viewer | |
BAC28826 | (Get FASTA) | NCBI Sequence Viewer | |
BAC40718 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09738 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09739 | (Get FASTA) | NCBI Sequence Viewer | |
EDL09740 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000047541 | ||
ENSMUSP00000047541.7 | |||
ENSMUSP00000158310.2 | |||
GenBank Protein | Q8BMI0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_598897 ⟸ NM_134136 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q8BTQ4 (UniProtKB/Swiss-Prot), Q8C0H4 (UniProtKB/Swiss-Prot), Q8BMI0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006525564 ⟸ XM_006525501 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | NP_001348018 ⟸ NM_001361089 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001348017 ⟸ NM_001361088 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001348019 ⟸ NM_001361090 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | NP_001348020 ⟸ NM_001361091 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | XP_030106123 ⟸ XM_030250263 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q8BTQ4 (UniProtKB/Swiss-Prot), Q8BMI0 (UniProtKB/Swiss-Prot), Q8C0H4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030106126 ⟸ XM_030250266 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_030106124 ⟸ XM_030250264 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q8BTQ4 (UniProtKB/Swiss-Prot), Q8BMI0 (UniProtKB/Swiss-Prot), Q8C0H4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030106125 ⟸ XM_030250265 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | ENSMUSP00000047541 ⟸ ENSMUST00000048688 |
RefSeq Acc Id: | ENSMUSP00000158310 ⟸ ENSMUST00000235807 |
RefSeq Acc Id: | XP_036016820 ⟸ XM_036160927 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_036016817 ⟸ XM_036160924 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_036016819 ⟸ XM_036160926 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_036016822 ⟸ XM_036160929 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_036016816 ⟸ XM_036160923 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_036016825 ⟸ XM_036160932 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_036016823 ⟸ XM_036160930 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_036016818 ⟸ XM_036160925 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_036016821 ⟸ XM_036160928 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8BMI0-F1-model_v2 | AlphaFold | Q8BMI0 | 1-1194 | view protein structure |
RGD ID: | 13677982 | ||||||||
Promoter ID: | EPDNEW_M23140 | ||||||||
Type: | initiation region | ||||||||
Name: | Fbxo38_1 | ||||||||
Description: | Mus musculus F-box protein 38 , transcript variant 5, 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: | 6847496 | ||||||||
Promoter ID: | MM_ACW:25161 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | FBXO38.FSEP07, FBXO38.JSEP07 | ||||||||
Position: |
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RGD ID: | 6829235 | ||||||||
Promoter ID: | MM_KWN:25452 | ||||||||
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: | NM_134136, NM_177829, OTTMUST00000083851, UC008FDD.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2444639 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000042211 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000048688 | ENTREZGENE |
ENSMUST00000048688.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000235807.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1280.50 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.80.10.10 | UniProtKB/Swiss-Prot | |
InterPro | F-box-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
F-box_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FBX38 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LRR_dom_sf | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:107035 | UniProtKB/Swiss-Prot |
MGD | MGI:2444639 | ENTREZGENE |
NCBI Gene | 107035 | ENTREZGENE |
PANTHER | F-BOX ONLY PROTEIN 38 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR14753 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | F-box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Fbxo38 | PhenoGen |
Superfamily-SCOP | RNI-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF81383 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A494BB05_MOUSE | UniProtKB/TrEMBL |
FBX38_MOUSE | UniProtKB/Swiss-Prot | |
Q8BM64_MOUSE | UniProtKB/TrEMBL | |
Q8BMI0 | ENTREZGENE | |
Q8BTQ4 | ENTREZGENE | |
Q8C0H4 | ENTREZGENE | |
Q8R576_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q8BTQ4 | UniProtKB/Swiss-Prot |
Q8C0H4 | UniProtKB/Swiss-Prot |