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 FEV
Gene summary
Basic gene Info.Gene symbolFEV
Gene nameFEV (ETS oncogene family)
SynonymsHSRNAFEV|PET-1
CytomapUCSC genome browser: 2q36
Type of geneprotein-coding
RefGenesNM_017521.2,
DescriptionPC12 ETS domain-containing transcription factor 1fifth Ewing variant proteinprotein FEV
Modification date20141207
dbXrefs MIM : 607150
HGNC : HGNC
Ensembl : ENSG00000163497
HPRD : 06193
Vega : OTTHUMG00000133080
ProteinUniProt: Q99581
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FEV
BioGPS: 54738
PathwayNCI Pathway Interaction Database: FEV
KEGG: FEV
REACTOME: FEV
Pathway Commons: FEV
ContextiHOP: FEV
ligand binding site mutation search in PubMed: FEV
UCL Cancer Institute: FEV
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for FEV
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
Y98,M96N97ILUAD1
Y122A123VLUAD1
Y122A123TUCEC1
Q48,S44Q46HUCEC1
Y108,R106Y107HUCEC1
Y122Y124CUCEC1
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 FEV
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
Y108Y107H-1.4082002
R106Y107H-1.4082002
Y122Y124C-1.1277504
Y122A123T-1.0415872
Y122A123V-0.73387666
Q48Q46H-0.6580631
S44Q46H-0.6580631
M96N97I-0.50955926
Y98N97I-0.50955926
(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 FEV from PDB

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Differential gene expression and gene-gene network for FEV
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 FEV and the right PPI network was created from samples without mutations in the LBS of FEV. 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 FEV
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0151744Myocardial Ischemia1Biomarker

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

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Pharmacological information for FEV
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 FEV go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3zp5AQ48 M96 Y108
NUCNucleic Acids3zp5AS44 Y98 R106 Y122


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Conservation information for LBS of FEV
Multiple alignments for Q99581 in multiple species
LBSAA sequence# speciesSpecies
D99PNMNYDKLSRA3Homo sapiens, Mus musculus, Rattus norvegicus
K100NMNYDKLSRAL3Homo sapiens, Mus musculus, Rattus norvegicus
K116KNIMSKVHGKR3Homo sapiens, Mus musculus, Rattus norvegicus
K91RWGERKSKPNM3Homo sapiens, Mus musculus, Rattus norvegicus
K93GERKSKPNMNY3Homo sapiens, Mus musculus, Rattus norvegicus
L49SGQIQLWQFLL3Homo sapiens, Mus musculus, Rattus norvegicus
M96KSKPNMNYDKL3Homo sapiens, Mus musculus, Rattus norvegicus
Q48GSGQIQLWQFL3Homo sapiens, Mus musculus, Rattus norvegicus
R103YDKLSRALRYY3Homo sapiens, Mus musculus, Rattus norvegicus
R106LSRALRYYYDK3Homo sapiens, Mus musculus, Rattus norvegicus
R121KVHGKRYAYRF3Homo sapiens, Mus musculus, Rattus norvegicus
S44AVQKGSGQIQL3Homo sapiens, Mus musculus, Rattus norvegicus
W87EVARRWGERKS3Homo sapiens, Mus musculus, Rattus norvegicus
Y108RALRYYYDKNI3Homo sapiens, Mus musculus, Rattus norvegicus
Y109ALRYYYDKNIM3Homo sapiens, Mus musculus, Rattus norvegicus
Y122VHGKRYAYRFD3Homo sapiens, Mus musculus, Rattus norvegicus
Y98KPNMNYDKLSR3Homo sapiens, Mus musculus, Rattus norvegicus


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