Cancer Cell Metabolism Gene Database

  Cancer Cell Metabolism Gene DB

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Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for PFKFB1
Basic gene info.Gene symbolPFKFB1
Gene name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
SynonymsF6PK|HL2K|PFRX
CytomapUCSC genome browser: Xp11.21
Genomic locationchrX :54959589-55020511
Type of geneprotein-coding
RefGenesNM_001271804.1,
NM_001271805.1,NM_002625.3,NR_073450.1,
Ensembl idENSG00000158571
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
HGNC : HGNC
Ensembl : ENSG00000158571
HPRD : 02411
Vega : OTTHUMG00000021643
ProteinUniProt: P16118
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PFKFB1
BioGPS: 5207
Gene Expression Atlas: ENSG00000158571
The Human Protein Atlas: ENSG00000158571
PathwayNCI Pathway Interaction Database: PFKFB1
KEGG: PFKFB1
REACTOME: PFKFB1
ConsensusPathDB
Pathway Commons: PFKFB1
MetabolismMetaCyc: PFKFB1
HUMANCyc: PFKFB1
RegulationEnsembl's Regulation: ENSG00000158571
miRBase: chrX :54,959,589-55,020,511
TargetScan: NM_001271804
cisRED: ENSG00000158571
ContextiHOP: PFKFB1
cancer metabolism search in PubMed: PFKFB1
UCL Cancer Institute: PFKFB1
Assigned class in ccmGDBA - This gene has a literature evidence and it belongs to cancer gene.
References showing role of PFKFB1 in cancer cell metabolism1. Imbert-Fernandez Y, Clem BF, O'Neal J, Kerr DA, Spaulding R, et al. (2014) Estradiol stimulates glucose metabolism via 6-phosphofructo-2-kinase (PFKFB3). Journal of Biological Chemistry 289: 9440-9448. go to article
2. Yalcin A, Clem B, Imbert-Fernandez Y, Ozcan S, Peker S, et al. (2014) 6-Phosphofructo-2-kinase (PFKFB3) promotes cell cycle progression and suppresses apoptosis via Cdk1-mediated phosphorylation of p27. Cell death & disease 5: e1337. go to article

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Phenotypic Information for PFKFB1(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: PFKFB1
Familial Cancer Database: PFKFB1
* This gene is included in those cancer gene databases.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in

Therapeutic Vulnerabilities in Cancer1

cf) number; DB name
1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/,
3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html,
4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php,
1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

check002.gifMetabolic Pathway Description
KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM
REACTOME_INTEGRATION_OF_ENERGY_METABOLISM
REACTOME_METABOLISM_OF_CARBOHYDRATES
REACTOME_GLUCOSE_METABOLISM

check002.gifOthers
OMIM 311790; gene.
Orphanet
DiseaseKEGG Disease: PFKFB1
MedGen: PFKFB1 (Human Medical Genetics with Condition)
ClinVar: PFKFB1
PhenotypeMGI: PFKFB1 (International Mouse Phenotyping Consortium)
PhenomicDB: PFKFB1

Mutations for PFKFB1
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram
There's no structural variation information in COSMIC data for this gene.

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows PFKFB1 related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
There's no copy number variation information in COSMIC data for this gene.

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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=3

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=53)
Stat. for Synonymous SNVs
(# total SNVs=16)
Stat. for Deletions
(# total SNVs=1)
Stat. for Insertions
(# total SNVs=0)
There's no inserted snv.

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check002.gifTop 10 SNVs Having the Most Samples in COSMIC data
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID.
GRCh37 positionMutation(aa)Unique sampleID count
chr23:54978508-54978508p.R226C2
chr23:54971895-54971895p.R359C2
chr23:54978518-54978518p.D222D2
chr23:55020375-55020375p.S22S2
chr23:54978349-54978349p.R279C2
chr23:54985305-54985305p.F146F2
chr23:54975507-54975507p.?2
chr23:54989723-54989723p.R64*2
chr23:54964098-54964098p.E386D2
chr23:54982637-54982637p.R196I2

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=2

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample221121 4 1  742  71 2
# mutation221121 4 1  852  81 4
nonsynonymous SNV21 91 3    841  3  3
synonymous SNV 113  1 1   11  51 1
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma])

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check002.gifTop 10 SNVs Having the Most Samples in TCGA data
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID.
Genomic PositionMutation(aa)Unique sampleID count
chrX:54960284p.F339S,PFKFB11
chrX:54984787p.G203G,PFKFB11
chrX:54975519p.R74R,PFKFB11
chrX:54989698p.E321D,PFKFB11
chrX:54978518p.R187H,PFKFB11
chrX:54960307p.R74R,PFKFB11
chrX:54984793p.K299N,PFKFB11
chrX:54975540p.Y178H,PFKFB11
chrX:54989706p.A63T,PFKFB11
chrX:54978531p.R294C,PFKFB11

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for PFKFB1 in TCGA
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene.
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for PFKFB1

check002.gifGene Expression in Cancer Cell-lines (CCLE)
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data.

check002.gifDifferential Gene Expression in Primary Tumors (TCGA)
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis.
(t test, adjusted p<0.05 (using Benjamini-Hochberg FDR))
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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-Expressed gene's network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

ACE2,ACSM1,AKR1C2,ALOX15B,APEX2,APOD,C15orf43,
CCDC57,GGT1,GGT3P,GGTLC1,HAAO,MPV17L,MUCL1,
NOTO,OXER1,PFKFB1,SERHL2,SERHL,SLCO1B1,SPINK8
ACAA2,ACADL,ACSL1,ADHFE1,BNIP3,MROH8,CS,
DECR1,GBE1,GHR,HSDL2,KIAA0408,LPL,MARC1,
MTHFD1,PEX19,PFKFB1,PLIN5,PPP1R1A,RNF157,STBD1

ADIPOQ,AQP7,CD300LG,CD36,CIDEA,EPB42,FABP4,
GLYAT,HEPACAM,KCNIP2,LEP,LGALS12,LIPE,MRAP,
NXNL1,PFKFB1,PLIN1,PLIN4,THRSP,TTTY9B,TUSC5
BPIFB4,CNBD1,DEFB124,DGAT2,DYDC1,GLYCAM1,LGALS12,
LIM2,LOC55908,LPL,MRAP,NKX6-2,NTSR2,OR3A4P,
PFKFB1,REG1B,SAA1,SCGB1A1,SLC7A10,SNORA22,THRSP
check002.gifCo-Expressed gene's Protein-protein interaction Network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for PFKFB1
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link
Organism-specific databasesPharmGKB PA33211; -.
Organism-specific databasesCTD 5207; -.

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB023936-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1experimentalD-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate
DB025156-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1experimental3-Phosphoglycerol
DB029306-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1experimentalPhosphothiophosphoric Acid-Adenylate Ester
DB041376-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1experimentalGuanosine-5'-Triphosphate
DB044936-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1experimentalFructose-6-Phosphate


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Cross referenced IDs for PFKFB1
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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