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mutLBSgeneDB |
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| Gene summary for FBXO30 |
 Gene summary |
| Basic gene Info. | Gene symbol | FBXO30 |
| Gene name | F-box protein 30 | |
| Synonyms | Fbx30 | |
| Cytomap | UCSC genome browser: 6q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032145.4, | |
| Description | F-box domain proteinF-box only protein 30F-box only protein, helicase, 18 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609101 | |
| HGNC : HGNC | ||
| HPRD : 10953 | ||
| Protein | UniProt: Q8TB52 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FBXO30 | |
| BioGPS: 84085 | ||
| Pathway | NCI Pathway Interaction Database: FBXO30 | |
| KEGG: FBXO30 | ||
| REACTOME: FBXO30 | ||
| Pathway Commons: FBXO30 | ||
| Context | iHOP: FBXO30 | |
| ligand binding site mutation search in PubMed: FBXO30 | ||
| UCL Cancer Institute: FBXO30 | ||
| 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 |
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| Ligand binding site mutations for FBXO30 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H9,H7 | S8P | COAD | 2 | H49 | R50Q | COAD | 1 | H42 | H42L | LUSC | 1 | H42 | H42Y | SKCM | 1 | H42 | V40A | STAD | 1 | C18 | R17W | UCEC | 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 FBXO30 |
| 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 | H42 | H42L | 0.03308342 | H42 | V40A | -1.2633552 | C18 | R17W | -1.1083225 | H9 | S8P | -0.81749885 | H7 | S8P | -0.81749885 | H42 | H42Y | -0.37081466 | H49 | R50Q | -0.31944872 |
| (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 FBXO30 from PDB |
| PDB ID | PDB title | PDB structure | 2YRE | Solution structure of the zinc finger domains (1-87) from human F-box only protein |  |
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| Differential gene expression and gene-gene network for FBXO30 |
| 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 FBXO30 |
| 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 FBXO30 |
| 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 FBXO30 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2yre | A | H49 | ZN | ZINC(2+) | 2yre | A | H7 | ZN | ZINC(2+) | 2yre | A | H9 C18 H42 |
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| Conservation information for LBS of FBXO30 |
| Multiple alignments for Q8TB52 in multiple species |
| LBS | AA sequence | # species | Species | C10 | Q-HSHCVNCVS | 1 | Homo sapiens | C10 | QQHSHCMNCVS | 1 | Mus musculus | C10 | QQHSHCVNCVS | 1 | Rattus norvegicus | C13 | SHCVNCVSRRC | 2 | Homo sapiens, Rattus norvegicus | C13 | SHCMNCVSRRC | 1 | Mus musculus | C18 | CVSRRCMTRPE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C28 | EPGVSCDLIGC | 2 | Mus musculus, Rattus norvegicus | C28 | EPGISCDLIGC | 1 | Homo sapiens | C33 | CDLIGCPLVCG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C37 | GCPLVCGAVFH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C44 | AVFHSCKADEH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C53 | EHRLLCPFERV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H42 | CGAVFHSCKAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H49 | CKADEHRLLCP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H7 | EELQ-HSHCVN | 1 | Homo sapiens | H7 | EEVQQHSHCMN | 1 | Mus musculus | H7 | EEVQQHSHCVN | 1 | Rattus norvegicus | H9 | LQ-HSHCVNCV | 1 | Homo sapiens | H9 | VQQHSHCMNCV | 1 | Mus musculus | H9 | VQQHSHCVNCV | 1 | Rattus norvegicus |
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