mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 CBLC
Gene summary
Basic gene Info.Gene symbolCBLC
Gene nameCbl proto-oncogene C, E3 ubiquitin protein ligase
SynonymsCBL-3|CBL-SL|RNF57
CytomapUCSC genome browser: 19q13.2
Type of geneprotein-coding
RefGenesNM_001130852.1,
NM_012116.3,
DescriptionCas-Br-M (murine) ecotropic retroviral transforming sequence cCas-Br-M (murine) ectropic retroviral transforming sequence cCbl proto-oncogene, E3 ubiquitin protein ligase CE3 ubiquitin-protein ligase CBL-CRING finger protein 57SH3-binding protein CBL
Modification date20141207
dbXrefs MIM : 608453
HGNC : HGNC
Ensembl : ENSG00000142273
HPRD : 09765
Vega : OTTHUMG00000150715
ProteinUniProt: Q9ULV8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CBLC
BioGPS: 23624
PathwayNCI Pathway Interaction Database: CBLC
KEGG: CBLC
REACTOME: CBLC
Pathway Commons: CBLC
ContextiHOP: CBLC
ligand binding site mutation search in PubMed: CBLC
UCL Cancer Institute: CBLC
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:0007175negative regulation of epidermal growth factor-activated receptor activity10362357
GO:0042059negative regulation of epidermal growth factor receptor signaling pathway10362357
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process14661060
GO:0043407negative regulation of MAP kinase activity10362357


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Ligand binding site mutations for CBLC
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
P41S43LSKCM1
T268R269CUCEC1
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 CBLC
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
T268R269C-0.64901458
P41S43L-0.19875254
(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 CBLC from PDB

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Differential gene expression and gene-gene network for CBLC
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 CBLC and the right PPI network was created from samples without mutations in the LBS of CBLC. 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 CBLC
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 CBLC
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 CBLC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LEU,GLN,ARG,TYR,SER,SER,ASP,PRO,THR,GLY)3op0AP41 T268
IIIPeptide ligand (LEU,GLN,ARG,TYR,SER,SER,ASP,PRO,THR,GLY)3op0BP41 T268
IIIPeptide ligand (ASN,GLU,TYR,THR,ALA)3vroAP41 T268
IIIPeptide ligand (GLN,ARG,TYR,SER,SER,ASP,PRO,THR)3vrpAP41 T268
IIIPeptide ligand (GLN,ARG,TYR,SER,SER,ASP,PRO,THR)3vrrAP41 T268


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Conservation information for LBS of CBLC
Multiple alignments for Q9ULV8 in multiple species
LBSAA sequence# speciesSpecies
A274RLGQWAIGYVS3Homo sapiens, Mus musculus, Rattus norvegicus
C267IFRPSCTRLGQ3Homo sapiens, Mus musculus, Rattus norvegicus
D199LRTTIDLTCSG1Homo sapiens
D199LRSTLDLTCNG1Mus musculus
D199LRSTLDLTCSG1Rattus norvegicus
D304LEGQKDGFYLY1Homo sapiens
D304LKGQKDGIFLF1Mus musculus
D304LKGQKDGIFLY1Rattus norvegicus
E210HVSIFEFDVFT1Homo sapiens
E210HVSVFEFDVFT1Mus musculus
E210HVSVFEFDIFT1Rattus norvegicus
E300LQVLLKGQKDG2Mus musculus, Rattus norvegicus
E300SQVLLEGQKDG1Homo sapiens
F306GQKDGFYLYPD1Homo sapiens
F306GQKDGIFLFPD1Mus musculus
F306GQKDGIFLYPD1Rattus norvegicus
G301QVLLKGQKDGI2Mus musculus, Rattus norvegicus
G301QVLLEGQKDGF1Homo sapiens
H205LTCSGHVSIFE1Homo sapiens
H205LTCNGHVSVFE1Mus musculus
H205LTCSGHVSVFE1Rattus norvegicus
I288SILQTIPLNKP2Mus musculus, Rattus norvegicus
I288SILQTIPANKP1Homo sapiens
K292TIPLNKPLLQV2Mus musculus, Rattus norvegicus
K292TIPANKPLSQV1Homo sapiens
L285SDGSILQTIPA1Homo sapiens
L285SDGSILQTIPL1Mus musculus
L285SNGSILQTIPL1Rattus norvegicus
P41RLSVSPPSLRD1Homo sapiens
P41RMVTGPPSLRD1Mus musculus
P41RLFVGPPSLRD1Rattus norvegicus
Q286DGSILQTIPAN1Homo sapiens
Q286DGSILQTIPLN1Mus musculus
Q286NGSILQTIPLN1Rattus norvegicus
R264GSYIFRPSCTR3Homo sapiens, Mus musculus, Rattus norvegicus
S203IDLTCSGHVSI1Homo sapiens
S203LDLTCNGHVSV1Mus musculus
S203LDLTCSGHVSV1Rattus norvegicus
S266YIFRPSCTRLG3Homo sapiens, Mus musculus, Rattus norvegicus
S40PRLSVSPPSLR1Homo sapiens
S40PRMVTGPPSLR1Mus musculus
S40LRLFVGPPSLR1Rattus norvegicus
T201TTIDLTCSGHV1Homo sapiens
T201STLDLTCNGHV1Mus musculus
T201STLDLTCSGHV1Rattus norvegicus
T268FRPSCTRLGQW3Homo sapiens, Mus musculus, Rattus norvegicus
T287GSILQTIPLNK2Mus musculus, Rattus norvegicus
T287GSILQTIPANK1Homo sapiens
Y244MAFLTYDEVQT2Mus musculus, Rattus norvegicus
Y244MAFLTYDEVQE1Homo sapiens
Y277QWAIGYVSSDG2Homo sapiens, Mus musculus
Y277QWAIGYVSSNG1Rattus norvegicus
Y307QKDGFYLYPDG1Homo sapiens
Y307QKDGIFLFPDG1Mus musculus
Y307QKDGIFLYPDG1Rattus norvegicus


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