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 RNF123
Gene summary
Basic gene Info.Gene symbolRNF123
Gene namering finger protein 123
CytomapUCSC genome browser: 3p24.3
Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF123kip1 ubiquitination-promoting complex protein 1
Modification date20141207
dbXrefs MIM : 614472
Ensembl : ENSG00000164068
HPRD : 11499
Vega : OTTHUMG00000156891
ProteinUniProt: Q5XPI4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RNF123
BioGPS: 63891
PathwayNCI Pathway Interaction Database: RNF123
Pathway Commons: RNF123
ContextiHOP: RNF123
ligand binding site mutation search in PubMed: RNF123
UCL Cancer Institute: RNF123
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for RNF123

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

Protein structure related information for RNF123
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
(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 RNF123 from PDB

Differential gene expression and gene-gene network for RNF123
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 RNF123 and the right PPI network was created from samples without mutations in the LBS of RNF123. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RNF123
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RNF123
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 RNF123 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RNF123
Multiple alignments for Q5XPI4 in multiple species
LBSAA sequence# speciesSpecies
C1254-EEDLCPICYA2Homo sapiens, Mus musculus
C1254IEDNTCCICYA1Arabidopsis thaliana
C1257DLCPICYAHPI2Homo sapiens, Mus musculus
C1257NTCCICYAGEA1Arabidopsis thaliana
C1269AVFQPCGHKSC2Homo sapiens, Mus musculus
C1269AMIAPCSHRSC1Arabidopsis thaliana
C1274CGHKSCKACIN2Homo sapiens, Mus musculus
C1274CSHRSCYGCIT1Arabidopsis thaliana
C1277KSCKACINQHL2Homo sapiens, Mus musculus
C1277RSCYGCITRHL1Arabidopsis thaliana
C1288MNNKDCFFCKT1Homo sapiens
C1288LNCQRCFFCNA1Arabidopsis thaliana
C1288MNNKDCFFCKA1Mus musculus
C1291KDCFFCKTTIV1Homo sapiens
C1291QRCFFCNATVI1Arabidopsis thaliana
C1291KDCFFCKATIV1Mus musculus
H1271FQPCGHKSCKA2Homo sapiens, Mus musculus
H1271IAPCSHRSCYG1Arabidopsis thaliana

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