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mutLBSgeneDB |
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| Gene summary for FBXO5 |
 Gene summary |
| Basic gene Info. | Gene symbol | FBXO5 |
| Gene name | F-box protein 5 | |
| Synonyms | EMI1|FBX5|Fbxo31 | |
| Cytomap | UCSC genome browser: 6q25.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001142522.1, NM_012177.3, | |
| Description | F-box only protein 5F-box protein Fbx5early mitotic inhibitor 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606013 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112029 | ||
| HPRD : 09348 | ||
| Vega : OTTHUMG00000015854 | ||
| Protein | UniProt: Q9UKT4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FBXO5 | |
| BioGPS: 26271 | ||
| Pathway | NCI Pathway Interaction Database: FBXO5 | |
| KEGG: FBXO5 | ||
| REACTOME: FBXO5 | ||
| Pathway Commons: FBXO5 | ||
| Context | iHOP: FBXO5 | |
| ligand binding site mutation search in PubMed: FBXO5 | ||
| UCL Cancer Institute: FBXO5 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0051436 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 11988738 | GO:0060565 | inhibition of mitotic anaphase-promoting complex activity | 15148369 |
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| Ligand binding site mutations for FBXO5 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C381 | R380C | UCEC | 2 | C406 | Y405C | PRAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for FBXO5 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | C381 | R380C | -0.9243614 | C406 | Y405C | -0.87891713 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for FBXO5 from PDB |
| PDB ID | PDB title | PDB structure | 2M6N | 3D solution structure of EMI1 (Early Mitotic Inhibitor 1) |  |
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| Differential gene expression and gene-gene network for FBXO5 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for FBXO5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FBXO5 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FBXO5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4ui9 | S | C381 | ZN | ZINC(2+) | 4ui9 | S | C406 |
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| Conservation information for LBS of FBXO5 |
| Multiple alignments for Q9UKT4 in multiple species |
| LBS | AA sequence | # species | Species | C378 | ESLKACIRCNS | 1 | Homo sapiens | C378 | ESLRRCSRCSS | 1 | Danio rerio | C378 | QCLKVCVDCSS | 1 | Xenopus tropicalis | C378 | ESLKACVRCNF | 1 | Mus musculus | C381 | KACIRCNSPAK | 1 | Homo sapiens | C381 | RRCSRCSSPAR | 1 | Danio rerio | C381 | KVCVDCSSPAK | 1 | Xenopus tropicalis | C381 | KACVRCNFPAK | 1 | Mus musculus | C396 | LQRATCKREGC | 1 | Homo sapiens | C396 | MQRAVCTRISC | 1 | Danio rerio | C396 | LHRATCTRESC | 1 | Xenopus tropicalis | C396 | LERAVCKRESC | 1 | Mus musculus | C401 | CKREGCGFDYC | 1 | Homo sapiens | C401 | CTRISCAFEFC | 1 | Danio rerio | C401 | CTRESCKFDFC | 1 | Xenopus tropicalis | C401 | CKRESCQFEYC | 1 | Mus musculus | C406 | CGFDYCTKCLC | 1 | Homo sapiens | C406 | CAFEFCTLCQS | 1 | Danio rerio | C406 | CKFDFCTLCSC | 1 | Xenopus tropicalis | C406 | CQFEYCTKCLC | 1 | Mus musculus | C409 | DYCTKCLCNYH | 1 | Homo sapiens | C409 | EFCTLCQSAFH | 1 | Danio rerio | C409 | DFCTLCSCKYH | 1 | Xenopus tropicalis | C409 | EYCTKCLCAYH | 1 | Mus musculus | C419 | HTTKDCSDGKL | 1 | Homo sapiens | C419 | HDSTPCRNTVR | 1 | Danio rerio | C419 | HGSKCCQTSKP | 1 | Xenopus tropicalis | C419 | HNNKDCLNGKI | 1 | Mus musculus | C6 | ----------- | 2 | Danio rerio, Xenopus tropicalis | C6 | MSRRPCSCALR | 1 | Homo sapiens | C6 | MSRRTCSDLRR | 1 | Mus musculus | H414 | CLCNYHTTKDC | 1 | Homo sapiens | H414 | CQSAFHDSTPC | 1 | Danio rerio | H414 | CSCKYHGSKCC | 1 | Xenopus tropicalis | H414 | CLCAYHNNKDC | 1 | Mus musculus |
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