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 RBBP6
Gene summary
Basic gene Info.Gene symbolRBBP6
Gene nameretinoblastoma binding protein 6
SynonymsMY038|P2P-R|PACT|RBQ-1|SNAMA
CytomapUCSC genome browser: 16p12.2
Type of geneprotein-coding
RefGenesNM_006910.4,
NM_018703.3,NM_032626.5,
DescriptionE3 ubiquitin-protein ligase RBBP6RB-binding Q-protein 1p53-associated cellular protein of testisproliferation potential-related proteinprotein P2P-Rretinoblastoma-binding Q protein 1retinoblastoma-binding protein 6
Modification date20141222
dbXrefs MIM : 600938
HGNC : HGNC
Ensembl : ENSG00000122257
HPRD : 02964
Vega : OTTHUMG00000096991
ProteinUniProt: Q7Z6E9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RBBP6
BioGPS: 5930
PathwayNCI Pathway Interaction Database: RBBP6
KEGG: RBBP6
REACTOME: RBBP6
Pathway Commons: RBBP6
ContextiHOP: RBBP6
ligand binding site mutation search in PubMed: RBBP6
UCL Cancer Institute: RBBP6
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
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process18851979


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Ligand binding site mutations for RBBP6
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
C164R163HHNSC1
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 RBBP6
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
C164R163H-1.3734587
(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 RBBP6 from PDB

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Differential gene expression and gene-gene network for RBBP6
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 RBBP6 and the right PPI network was created from samples without mutations in the LBS of RBBP6. 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 RBBP6
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 RBBP6
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 RBBP6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of RBBP6
Multiple alignments for Q7Z6E9 in multiple species
LBSAA sequence# speciesSpecies


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