mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for UBA52
Gene summary
Basic gene Info.Gene symbolUBA52
Gene nameubiquitin A-52 residue ribosomal protein fusion product 1
SynonymsCEP52|HUBCEP52|L40|RPL40
CytomapUCSC genome browser: 19p13.1-p12
Type of geneprotein-coding
RefGenesNM_001033930.1,
NM_003333.3,
Description60S ribosomal protein L40ubiquitin carboxyl extension protein 52ubiquitin-52 amino acid fusion proteinubiquitin-60S ribosomal protein L40ubiquitin-CEP52
Modification date20141207
dbXrefs MIM : 191321
HGNC : HGNC
Ensembl : ENSG00000221983
HPRD : 08931
Vega : OTTHUMG00000183110
ProteinUniProt: P62987
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UBA52
BioGPS: 7311
PathwayNCI Pathway Interaction Database: UBA52
KEGG: UBA52
REACTOME: UBA52
Pathway Commons: UBA52
ContextiHOP: UBA52
ligand binding site mutation search in PubMed: UBA52
UCL Cancer Institute: UBA52
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for UBA52

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A28I30FSTAD1
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 UBA52
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

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.
LBSAAchange of nsSNVRelative stability change
A28I30F-0.53667778
(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 UBA52 from PDB

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Differential gene expression and gene-gene network for UBA52
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)
* Left PPI network was created from samples with mutations in the LBS of UBA52 and the right PPI network was created from samples without mutations in the LBS of UBA52. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for UBA52
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for UBA52
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of UBA52 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG,PRO)4s1zAA28
IIIPeptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG)4s1zBA28
IIIPeptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN)4s1zCA28
IIIPeptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG,PRO)4s1zEA28


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Conservation information for LBS of UBA52
Multiple alignments for P62987 in multiple species
LBSAA sequence# speciesSpecies
A28IENVKAKIQDK5Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster, Caenorhabditis elegans
A28IDNVKSKIQDK4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D52GKQLEDGRTLS9Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B
E24PSDTIENVKAK4Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster
E24SSDTIDNVKSK4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E24ASDTIENVKAK1Caenorhabditis elegans
E51AGKQLEDGRTL9Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B
G53KQLEDGRTLSD9Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B
N25SDTIENVKAKI5Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster, Caenorhabditis elegans
N25SDTIDNVKSKI4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q49IFAGKQLEDGR9Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B
S20LEVEPSDTIEN4Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster
S20LEVESSDTIDN4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S20LEVEASDTIEN1Caenorhabditis elegans
T22VEPSDTIENVK4Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster
T22VESSDTIDNVK4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T22VEASDTIENVK1Caenorhabditis elegans
T55LEDGRTLSDYN9Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B


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