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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for PFKFB3 |
Basic gene info. | Gene symbol | PFKFB3 |
Gene name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | |
Synonyms | IPFK2|PFK2 | |
Cytomap | UCSC genome browser: 10p15.1 | |
Genomic location | chr10 :6186842-6277507 | |
Type of gene | protein-coding | |
RefGenes | NM_001145443.1, NM_001282630.1,NM_004566.3, | |
Ensembl id | ENSG00000170525 | |
Description | 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 36PF-2-K/Fru-2,6-P2ase 36PF-2-K/Fru-2,6-P2ase brain/placenta-type isozymePFK/FBPase 3fruct | |
Modification date | 20141207 | |
dbXrefs | MIM : 605319 | |
HGNC : HGNC | ||
Ensembl : ENSG00000170525 | ||
HPRD : 05612 | ||
Vega : OTTHUMG00000017621 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PFKFB3 | |
BioGPS: 5209 | ||
Gene Expression Atlas: ENSG00000170525 | ||
The Human Protein Atlas: ENSG00000170525 | ||
Pathway | NCI Pathway Interaction Database: PFKFB3 | |
KEGG: PFKFB3 | ||
REACTOME: PFKFB3 | ||
ConsensusPathDB | ||
Pathway Commons: PFKFB3 | ||
Metabolism | MetaCyc: PFKFB3 | |
HUMANCyc: PFKFB3 | ||
Regulation | Ensembl's Regulation: ENSG00000170525 | |
miRBase: chr10 :6,186,842-6,277,507 | ||
TargetScan: NM_001145443 | ||
cisRED: ENSG00000170525 | ||
Context | iHOP: PFKFB3 | |
cancer metabolism search in PubMed: PFKFB3 | ||
UCL Cancer Institute: PFKFB3 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for PFKFB3(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: PFKFB3 |
Familial Cancer Database: PFKFB3 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
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/ |
Metabolic Pathway Description | |
KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM REACTOME_METABOLISM_OF_CARBOHYDRATES REACTOME_GLUCOSE_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: PFKFB3 |
MedGen: PFKFB3 (Human Medical Genetics with Condition) | |
ClinVar: PFKFB3 | |
Phenotype | MGI: PFKFB3 (International Mouse Phenotyping Consortium) |
PhenomicDB: PFKFB3 |
Mutations for PFKFB3 |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
breast | PFKFB3 | chr10 | 6222611 | 6222611 | chr23 | 127551159 | 127551159 | |
ovary | PFKFB3 | chr10 | 6190169 | 6190189 | PTPLA | chr10 | 17635758 | 17635778 |
ovary | PFKFB3 | chr10 | 6247766 | 6247786 | chr10 | 5868939 | 5868959 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows PFKFB3 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF826291 | PFKFB3 | 1 | 178 | 10 | 6266550 | 6268297 | ECM1 | 174 | 605 | 1 | 150484160 | 150485264 | |
BG926621 | PFKFB3 | 81 | 383 | 10 | 6276494 | 6276796 | ERCC1 | 367 | 424 | 19 | 45978380 | 45978437 | |
AA847065 | PFKFB3 | 8 | 66 | 10 | 6277385 | 6277443 | PFKFB3 | 61 | 180 | 10 | 6277268 | 6277387 | |
BF359367 | TBC1D2B | 16 | 183 | 15 | 78339909 | 78340098 | PFKFB3 | 173 | 292 | 10 | 6224094 | 6224213 | |
AK025969 | PFKFB3 | 1 | 468 | 10 | 6262056 | 6262523 | ASRGL1 | 469 | 1512 | 11 | 62123796 | 62160070 | |
BI047516 | ISL1 | 24 | 143 | 5 | 50687238 | 50689409 | PFKFB3 | 136 | 221 | 10 | 6253071 | 6253156 | |
AW896693 | PFKFB3 | 1 | 251 | 10 | 6251270 | 6251521 | PFKFB3 | 244 | 354 | 10 | 6251101 | 6251211 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 |   |   |   |   | 1 |   |   |   | 1 | 1 |   |   |   |   |   |   | |||
GAIN (# sample) | 1 |   |   |   |   | 1 |   |   |   | 1 | 1 |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=36) | (# total SNVs=17) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 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 position | Mutation(aa) | Unique sampleID count |
chr10:6258742-6258742 | p.K147T | 6 |
chr10:6261543-6261543 | p.I170I | 2 |
chr10:6261552-6261552 | p.P173P | 2 |
chr10:6264905-6264905 | p.V391L | 2 |
chr10:6255623-6255623 | p.I38I | 2 |
chr10:6258674-6258674 | p.F124F | 2 |
chr10:6265943-6265943 | p.C412C | 2 |
chr10:6258719-6258719 | p.H139H | 2 |
chr10:6255709-6255709 | p.K67T | 2 |
chr10:6266130-6266130 | p.I432T | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 3 | 1 |   | 7 | 1 |   | 2 |   | 3 |   |   | 6 | 1 | 2 |   |   | 6 | 4 | 1 | 6 |
# mutation | 3 | 1 |   | 6 | 1 |   | 2 |   | 3 |   |   | 7 | 1 | 2 |   |   | 5 | 4 | 1 | 7 |
nonsynonymous SNV | 2 | 1 |   | 2 |   |   |   |   | 1 |   |   | 5 |   | 1 |   |   | 2 | 4 | 1 | 4 |
synonymous SNV | 1 |   |   | 4 | 1 |   | 2 |   | 2 |   |   | 2 | 1 | 1 |   |   | 3 |   |   | 3 |
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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Top 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 Position | Mutation(aa) | Unique sampleID count |
chr10:6255623 | p.I18I,PFKFB3 | 3 |
chr10:6258674 | p.I150I,PFKFB3 | 2 |
chr10:6265943 | p.P153P,PFKFB3 | 2 |
chr10:6261543 | p.C392C,PFKFB3 | 2 |
chr10:6255642 | p.A25T,PFKFB3 | 2 |
chr10:6261552 | p.P444Q,PFKFB3 | 2 |
chr10:6268204 | p.R491L,PFKFB3 | 2 |
chr10:6274874 | p.F104F,PFKFB3 | 2 |
chr10:6262698 | p.R349R,PFKFB3 | 1 |
chr10:6264931 | p.T139I,PFKFB3 | 1 |
Other DBs for Point Mutations |
Copy Number for PFKFB3 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 PFKFB3 |
Gene 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. |
Differential 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-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 |
ADCY9,ANO6,ATP10A,C9orf129,CSNK1G1,ECE1,FYCO1, GNG12,INADL,LNPEP,NEK10,PFKFB3,PXK,RALGAPA2, RIN2,SBF2,SERINC5,SLC30A1,SLC40A1,SLC4A7,SULF1 | ABHD15,ACACB,ALDH2,AQP7,CIDEC,FAM89A,FBXO27, GNAI1,GYG2,HEPACAM,LIPE,LOC283392,MGC45800,MARC1, PFKFB3,PLA2G16,PLIN1,TJP2,TMEM132C,TRHDE,TYRO3 |
ADM,ANGPTL4,CHSY1,CSF1,EDEM1,FOSL2,FUT11, HIF1A,ITPRIP,NLRP3,NOTCH2,NRP1,P4HA1,PCSK5, PFKFB3,RELT,SBNO2,SEC24D,PEAK1,SOCS3,STC1 | BHLHE40,C2CD4A,C5AR1,CARD14,HYPM,DEFB4A,DUSP4, STRIP2,CEMIP,KRT6B,LRRC37A3,MMP10,PDE4B,PFKFB3, PHLDA1,PIM3,PLAU,SEMG1,SLC7A5,SLCO4A1,TNIP3 |
Co-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 |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for PFKFB3 |
There's no related Drug. |
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Cross referenced IDs for PFKFB3 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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