mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 RBL1
Gene summary
Basic gene Info.Gene symbolRBL1
Gene nameretinoblastoma-like 1
CytomapUCSC genome browser: 20q11.2
Type of geneprotein-coding
Description107 kDa retinoblastoma-associated proteincellular protein 107retinoblastoma-like 1 (p107)retinoblastoma-like protein 1
Modification date20141207
dbXrefs MIM : 116957
Ensembl : ENSG00000080839
HPRD : 00312
Vega : OTTHUMG00000032406
ProteinUniProt: P28749
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RBL1
BioGPS: 5933
PathwayNCI Pathway Interaction Database: RBL1
Pathway Commons: RBL1
ContextiHOP: RBL1
ligand binding site mutation search in PubMed: RBL1
UCL Cancer Institute: RBL1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0043550regulation of lipid kinase activity16286473

Ligand binding site mutations for RBL1
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 RBL1
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 RBL1 from PDB

Differential gene expression and gene-gene network for RBL1
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 RBL1 and the right PPI network was created from samples without mutations in the LBS of RBL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RBL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RBL1
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 RBL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASP,LEU,TYR,CYS,TYR,GLU,GLN,LEU,ASN)4yozAT860 D929

Conservation information for LBS of RBL1
Multiple alignments for P28749 in multiple species
LBSAA sequence# speciesSpecies
D929KEERGDLIKFY2Homo sapiens, Mus musculus
D929GPDHVDIITFY1Arabidopsis thaliana
D929GSRHVDIIVFY1Oryza sativa subsp. japonica
E863ERTFQEIMKSY2Homo sapiens, Mus musculus
E863SLTFREIIYNY1Arabidopsis thaliana
E863SLTFKEIVNNY1Oryza sativa subsp. japonica
F861KEERTFQEIMK2Homo sapiens, Mus musculus
F861QMSLTFREIIY1Arabidopsis thaliana
F861QLSLTFKEIVN1Oryza sativa subsp. japonica
I931ERGDLIKFYNT2Homo sapiens, Mus musculus
I931DHVDIITFYNE1Arabidopsis thaliana
I931RHVDIIVFYNQ1Oryza sativa subsp. japonica
K853FYIMAKVTKEE2Homo sapiens, Mus musculus
K853FYGVAKISQMS1Arabidopsis thaliana
K853LYGVAKVSQLS1Oryza sativa subsp. japonica
K866FQEIMKSYRNQ2Homo sapiens, Mus musculus
K866FREIIYNYRKQ1Arabidopsis thaliana
K866FKEIVNNYKRE1Oryza sativa subsp. japonica
L947VKSFALKYDL-2Homo sapiens, Mus musculus
L947VKPLLVELGPV1Arabidopsis thaliana
L947VKPLLVALMP-1Oryza sativa subsp. japonica
M865TFQEIMKSYRN2Homo sapiens, Mus musculus
M865TFREIIYNYRK1Arabidopsis thaliana
M865TFKEIVNNYKR1Oryza sativa subsp. japonica
N935LIKFYNTIYVG1Homo sapiens
N935LIKFYNTVYVG1Mus musculus
N935IITFYNEIFIP1Arabidopsis thaliana
N935IIVFYNQVFVP1Oryza sativa subsp. japonica
Q862EERTFQEIMKS2Homo sapiens, Mus musculus
Q862MSLTFREIIYN1Arabidopsis thaliana
Q862LSLTFKEIVNN1Oryza sativa subsp. japonica
R869IMKSYRNQPQA2Homo sapiens, Mus musculus
R869IIYNYRKQPQC1Arabidopsis thaliana
R869IVNNYKREPQC1Oryza sativa subsp. japonica
R880NSHVYRSVLLK2Homo sapiens, Mus musculus
R880KPLVFRSVYVD1Arabidopsis thaliana
R880KPEVFRSIFVG1Oryza sativa subsp. japonica
S876QPQANSHVYRS2Homo sapiens, Mus musculus
S876QPQCKPLVFRS1Arabidopsis thaliana
S876EPQCKPEVFRS1Oryza sativa subsp. japonica
T860TKEERTFQEIM2Homo sapiens, Mus musculus
T860SQMSLTFREII1Arabidopsis thaliana
T860SQLSLTFKEIV1Oryza sativa subsp. japonica
V854YIMAKVTKEER2Homo sapiens, Mus musculus
V854YGVAKISQMSL1Arabidopsis thaliana
V854YGVAKVSQLSL1Oryza sativa subsp. japonica
V939YNTIYVGRVKS1Homo sapiens
V939YNTVYVGRVKS1Mus musculus
V939YNEIFIPAVKP1Arabidopsis thaliana
V939YNQVFVPTVKP1Oryza sativa subsp. japonica
Y849LLCAFYIMAKV2Homo sapiens, Mus musculus
Y849ILCCFYGVAKI1Arabidopsis thaliana
Y849ILCCLYGVAKV1Oryza sativa subsp. japonica
Y879ANSHVYRSVLL2Homo sapiens, Mus musculus
Y879CKPLVFRSVYV1Arabidopsis thaliana
Y879CKPEVFRSIFV1Oryza sativa subsp. japonica
Y934DLIKFYNTIYV1Homo sapiens
Y934DLIKFYNTVYV1Mus musculus
Y934DIITFYNEIFI1Arabidopsis thaliana
Y934DIIVFYNQVFV1Oryza sativa subsp. japonica

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas