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 PFKFB1
Gene summary
Basic gene Info.Gene symbolPFKFB1
Gene name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
CytomapUCSC genome browser: Xp11.21
Type of geneprotein-coding
Description6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 16PF-2-K/Fru-2,6-P2ASE liver isozyme6PF-2-K/Fru-2,6-P2ase 1PFK/FBPase 1fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase
Modification date20141207
dbXrefs MIM : 311790
Ensembl : ENSG00000158571
HPRD : 02411
Vega : OTTHUMG00000021643
ProteinUniProt: P16118
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PFKFB1
BioGPS: 5207
PathwayNCI Pathway Interaction Database: PFKFB1
Pathway Commons: PFKFB1
ContextiHOP: PFKFB1
ligand binding site mutation search in PubMed: PFKFB1
UCL Cancer Institute: PFKFB1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006003fructose 2,6-bisphosphate metabolic process2837207

Ligand binding site mutations for PFKFB1

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 PFKFB1
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 PFKFB1 from PDB

Differential gene expression and gene-gene network for PFKFB1
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 PFKFB1 and the right PPI network was created from samples without mutations in the LBS of PFKFB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for PFKFB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for PFKFB1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02393D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-PhosphateSmall molecule
ExperimentalDB025153-PhosphoglycerolSmall molecule
ExperimentalDB02930Phosphothiophosphoric Acid-Adenylate EsterSmall molecule
ExperimentalDB04137Guanosine-5'-TriphosphateSmall molecule
ExperimentalDB04493Fructose-6-PhosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PFKFB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of PFKFB1
Multiple alignments for P16118 in multiple species
LBSAA sequence# speciesSpecies
A429KLTPVAYGCKV2Homo sapiens, Bos taurus
A429KLTPVAYGCRV2Mus musculus, Rattus norvegicus
A52MVGLPARGKTY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D131HVAVFDATNTT3Homo sapiens, Mus musculus, Rattus norvegicus
D131RVAVFDATNTT1Bos taurus
G54GLPARGKTYIS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I220LSYIKIFDVGT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K175NIRQVKLGSPD2Homo sapiens, Bos taurus
K175NIKQVKLGSPD2Mus musculus, Rattus norvegicus
K55LPARGKTYIST4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N170GIIAENIRQVK1Homo sapiens
N170DIIAENIKQVK1Mus musculus
N170EIIAENIKQVK1Rattus norvegicus
N170DVIAENIRQVK1Bos taurus
Q173AENIRQVKLGS2Homo sapiens, Bos taurus
Q173AENIKQVKLGS2Mus musculus, Rattus norvegicus
R53VGLPARGKTYI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S159VFFIESICNDP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T56PARGKTYISTK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V174ENIRQVKLGSP2Homo sapiens, Bos taurus
V174ENIKQVKLGSP2Mus musculus, Rattus norvegicus
V223IKIFDVGTRYM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V249LMNIHVTPRSI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y430LTPVAYGCKVE2Homo sapiens, Bos taurus
Y430LTPVAYGCRVE2Mus musculus, Rattus norvegicus
Y57ARGKTYISTKL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus

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