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 RRP8
Gene summary
Basic gene Info.Gene symbolRRP8
Gene nameribosomal RNA processing 8, methyltransferase, homolog (yeast)
CytomapUCSC genome browser: 11p15.4
Type of geneprotein-coding
DescriptionRRP8 methyltransferase homologcerebral protein 1nucleomethylinribosomal RNA-processing protein 8
Modification date20141207
dbXrefs MIM : 615818
HPRD : 13800
ProteinUniProt: O43159
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RRP8
BioGPS: 23378
PathwayNCI Pathway Interaction Database: RRP8
Pathway Commons: RRP8
ContextiHOP: RRP8
ligand binding site mutation search in PubMed: RRP8
UCL Cancer Institute: RRP8
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000183chromatin silencing at rDNA18485871

Ligand binding site mutations for RRP8
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

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 RRP8
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 RRP8 from PDB

Differential gene expression and gene-gene network for RRP8
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 RRP8 and the right PPI network was created from samples without mutations in the LBS of RRP8. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RRP8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RRP8
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 RRP8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RRP8
Multiple alignments for O43159 in multiple species
LBSAA sequence# speciesSpecies
C317VADFGCGDCRL3Homo sapiens, Mus musculus, Rattus norvegicus
C317VADFGCGDARI1Arabidopsis thaliana
C345PRVTVCDMAQV3Homo sapiens, Mus musculus, Rattus norvegicus
C345PSVIACDMSNT1Arabidopsis thaliana
C363DVAVFCLSLMG4Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus
D334PVHCFDLASLD2Homo sapiens, Mus musculus
D334KVFSFDLVSKN1Arabidopsis thaliana
D334PVHCFDLAALD1Rattus norvegicus
D346RVTVCDMAQVP3Homo sapiens, Mus musculus, Rattus norvegicus
D346SVIACDMSNTS1Arabidopsis thaliana
F277EDPEAFLLYHR3Homo sapiens, Mus musculus, Rattus norvegicus
F277EDPQMFDMYHT1Arabidopsis thaliana
F284LYHRGFQRQVK2Mus musculus, Rattus norvegicus
F284LYHRGFQSQVK1Homo sapiens
F284MYHTGYQQQMS1Arabidopsis thaliana
F374TNIRDFLEEAN3Homo sapiens, Mus musculus, Rattus norvegicus
F374TNYSSYIKEAH1Arabidopsis thaliana
G316VVADFGCGDCR3Homo sapiens, Mus musculus, Rattus norvegicus
G316VVADFGCGDAR1Arabidopsis thaliana
G318ADFGCGDCRLA3Homo sapiens, Mus musculus, Rattus norvegicus
G318ADFGCGDARIA1Arabidopsis thaliana
H281AFLLYHRGFQR2Mus musculus, Rattus norvegicus
H281AFLLYHRGFQS1Homo sapiens
H281MFDMYHTGYQQ1Arabidopsis thaliana
L335VHCFDLASLDP2Homo sapiens, Mus musculus
L335VFSFDLVSKNP1Arabidopsis thaliana
L335VHCFDLAALDP1Rattus norvegicus
L364VAVFCLSLMGT4Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus
M347VTVCDMAQVPL3Homo sapiens, Mus musculus, Rattus norvegicus
M347VIACDMSNTSL1Arabidopsis thaliana
M367FCLSLMGTNIR3Homo sapiens, Mus musculus, Rattus norvegicus
M367FCLSLMGTNYS1Arabidopsis thaliana
S263LYSGPSSAAQR1Homo sapiens
S263LYTCSGKEALD1Arabidopsis thaliana
S263LYSGPSSAARR1Mus musculus
S263LYSGPSSAAQC1Rattus norvegicus
S365AVFCLSLMGTN4Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus
Y280EAFLLYHRGFQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y280QMFDMYHTGYQ1Arabidopsis thaliana

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