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 RNF144A
Gene summary
Basic gene Info.Gene symbolRNF144A
Gene namering finger protein 144A
CytomapUCSC genome browser: 2p25.2
Type of geneprotein-coding
DescriptionUbcM4-interacting protein 4probable E3 ubiquitin-protein ligase RNF144Aring finger protein 144ubiquitin conjugating enzyme 7 interacting protein 4ubiquitin-conjugating enzyme 7-interacting protein 4
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000151692
HPRD : 11510
Vega : OTTHUMG00000090353
ProteinUniProt: P50876
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RNF144A
BioGPS: 9781
PathwayNCI Pathway Interaction Database: RNF144A
Pathway Commons: RNF144A
ContextiHOP: RNF144A
ligand binding site mutation search in PubMed: RNF144A
UCL Cancer Institute: RNF144A
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 RNF144A

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 RNF144A
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 RNF144A from PDB

Differential gene expression and gene-gene network for RNF144A
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 RNF144A and the right PPI network was created from samples without mutations in the LBS of RNF144A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RNF144A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RNF144A
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 RNF144A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RNF144A
Multiple alignments for P50876 in multiple species
LBSAA sequence# speciesSpecies
C20DPLVSCKLCLG3Homo sapiens, Danio rerio, Mus musculus
C20EPLVSCKLCLG1Xenopus tropicalis
C23VSCKLCLGEYP2Homo sapiens, Mus musculus
C23VSCKLCLGEFP1Danio rerio
C23VSCKLCLGEYT1Xenopus tropicalis
C43CQCIFCTLCLK3Homo sapiens, Xenopus tropicalis, Mus musculus
C43CQCVFCTMCLK1Danio rerio
C46IFCTLCLKQYV3Homo sapiens, Xenopus tropicalis, Mus musculus
C46VFCTMCLKQYV1Danio rerio

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