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 FLI1
Gene summary
Basic gene Info.Gene symbolFLI1
Gene nameFli-1 proto-oncogene, ETS transcription factor
SynonymsEWSR2|SIC-1
CytomapUCSC genome browser: 11q24.1-q24.3
Type of geneprotein-coding
RefGenesNM_001167681.2,
NM_001271010.1,NM_001271012.1,NM_002017.4,
DescriptionEwing sarcoma breakpoint region 2Friend leukemia integration 1 transcription factorFriend leukemia virus integration 1transcription factor ERGB
Modification date20141207
dbXrefs MIM : 193067
HGNC : HGNC
Ensembl : ENSG00000151702
HPRD : 01901
Vega : OTTHUMG00000165792
ProteinUniProt: Q01543
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FLI1
BioGPS: 2313
PathwayNCI Pathway Interaction Database: FLI1
KEGG: FLI1
REACTOME: FLI1
Pathway Commons: FLI1
ContextiHOP: FLI1
ligand binding site mutation search in PubMed: FLI1
UCL Cancer Institute: FLI1
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 FLI1
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
W321R320CCOAD1
R355R355ICOAD1
R355G353SCOAD1
L283L283PCOAD1
R337S336IGBM1
Y343,K345D344YLUAD1
H363G364DLUAD1
K350T349ILUSC1
K325,W321E323KSKCM1
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 FLI1
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
L283L283P-1.7769911
W321E323K-1.089825
K325E323K-1.089825
W321R320C-1.0453532
Y343D344Y-0.97246051
K345D344Y-0.97246051
K350T349I-0.83275733
R355R355I-0.65349088
R355G353S-0.6061908
H363G364D-0.17308439
R337S336I-0.082760941
(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 FLI1 from PDB

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Differential gene expression and gene-gene network for FLI1
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 FLI1 and the right PPI network was created from samples without mutations in the LBS of FLI1. 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 FLI1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0553580Sarcoma, Ewing102Biomarker, GeneticVariation
umls:C0025149Medulloblastoma1Biomarker

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

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Pharmacological information for FLI1
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 FLI1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
COCOBALT(2+)5e8gAH363
COCOBALT(2+)5e8gBH363
COCOBALT(2+)5e8gCH363
COCOBALT(2+)5e8gDH363
NUCNucleic Acids5e8iDL283 W321 K325 R337
NUCNucleic Acids5e8iAL283 W321 K325 R337 K345
NUCNucleic Acids5e8iGL283 W321 K325 R337 K345
NUCNucleic Acids5e8iJL283 W321 K325 R337 K345
NUCNucleic Acids5e8iAR337 Y343 K350 R355
NUCNucleic Acids5e8iDR337 Y343 K350 R355
NUCNucleic Acids5e8iGR337 Y343 K350 R355
NUCNucleic Acids5e8iJR337 Y343 K350 R355


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Conservation information for LBS of FLI1
Multiple alignments for Q01543 in multiple species
LBSAA sequence# speciesSpecies
A338DKLSRALRYYY3Homo sapiens, Bos taurus, Mus musculus
D361YAYKFDFHGIA3Homo sapiens, Bos taurus, Mus musculus
H363YKFDFHGIAQA3Homo sapiens, Bos taurus, Mus musculus
K325RWGERKSKPNM3Homo sapiens, Bos taurus, Mus musculus
K327GERKSKPNMNY3Homo sapiens, Bos taurus, Mus musculus
K334NMNYDKLSRAL3Homo sapiens, Bos taurus, Mus musculus
K345RYYYDKNIMTK3Homo sapiens, Bos taurus, Mus musculus
K350KNIMTKVHGKR3Homo sapiens, Bos taurus, Mus musculus
L283SGQIQLWQFLL3Homo sapiens, Bos taurus, Mus musculus
M330KSKPNMNYDKL3Homo sapiens, Bos taurus, Mus musculus
N329RKSKPNMNYDK3Homo sapiens, Bos taurus, Mus musculus
Q282GSGQIQLWQFL3Homo sapiens, Bos taurus, Mus musculus
R337YDKLSRALRYY3Homo sapiens, Bos taurus, Mus musculus
R340LSRALRYYYDK3Homo sapiens, Bos taurus, Mus musculus
R355KVHGKRYAYKF3Homo sapiens, Bos taurus, Mus musculus
W321EVARRWGERKS3Homo sapiens, Bos taurus, Mus musculus
Y332KPNMNYDKLSR3Homo sapiens, Bos taurus, Mus musculus
Y341SRALRYYYDKN3Homo sapiens, Bos taurus, Mus musculus
Y342RALRYYYDKNI3Homo sapiens, Bos taurus, Mus musculus
Y343ALRYYYDKNIM3Homo sapiens, Bos taurus, Mus musculus
Y356VHGKRYAYKFD3Homo sapiens, Bos taurus, Mus musculus


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