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Gene: PFKFB1 |
Gene summary for PFKFB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PFKFB1 | Gene ID | 5207 |
| Gene name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | |
| Gene Alias | F6PK | |
| Cytomap | Xp11.21 | |
| Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | I1Z9G4 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 5207 | PFKFB1 | NAFLD1 | Human | Liver | NAFLD | 2.13e-09 | 8.76e-01 | -0.04 |
| 5207 | PFKFB1 | S41 | Human | Liver | Cirrhotic | 2.43e-06 | 6.51e-01 | -0.0343 |
| 5207 | PFKFB1 | S43 | Human | Liver | Cirrhotic | 1.15e-05 | -1.42e-01 | -0.0187 |
| 5207 | PFKFB1 | HCC1_Meng | Human | Liver | HCC | 6.78e-06 | -1.89e-01 | 0.0246 |
| 5207 | PFKFB1 | HCC2_Meng | Human | Liver | HCC | 2.30e-06 | -1.90e-01 | 0.0107 |
| 5207 | PFKFB1 | cirrhotic1 | Human | Liver | Cirrhotic | 2.33e-07 | -1.90e-01 | 0.0202 |
| 5207 | PFKFB1 | cirrhotic2 | Human | Liver | Cirrhotic | 5.01e-07 | -1.90e-01 | 0.0201 |
| 5207 | PFKFB1 | Pt13.a | Human | Liver | HCC | 1.20e-04 | -1.85e-01 | 0.021 |
| 5207 | PFKFB1 | Pt14.d | Human | Liver | HCC | 6.64e-04 | -1.80e-01 | 0.0143 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00485457 | Liver | NAFLD | response to steroid hormone | 75/1882 | 339/18723 | 3.44e-11 | 1.12e-08 | 75 |
| GO:00316677 | Liver | NAFLD | response to nutrient levels | 85/1882 | 474/18723 | 8.23e-08 | 7.09e-06 | 85 |
| GO:00434346 | Liver | NAFLD | response to peptide hormone | 76/1882 | 414/18723 | 1.51e-07 | 1.09e-05 | 76 |
| GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
| GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
| GO:00059965 | Liver | NAFLD | monosaccharide metabolic process | 53/1882 | 257/18723 | 2.89e-07 | 1.92e-05 | 53 |
| GO:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
| GO:00513846 | Liver | NAFLD | response to glucocorticoid | 36/1882 | 148/18723 | 3.88e-07 | 2.52e-05 | 36 |
| GO:00620125 | Liver | NAFLD | regulation of small molecule metabolic process | 63/1882 | 334/18723 | 6.55e-07 | 3.79e-05 | 63 |
| GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
| GO:00328685 | Liver | NAFLD | response to insulin | 53/1882 | 264/18723 | 6.99e-07 | 3.95e-05 | 53 |
| GO:00060917 | Liver | NAFLD | generation of precursor metabolites and energy | 84/1882 | 490/18723 | 7.03e-07 | 3.95e-05 | 84 |
| GO:00193185 | Liver | NAFLD | hexose metabolic process | 49/1882 | 237/18723 | 7.41e-07 | 4.12e-05 | 49 |
| GO:00725217 | Liver | NAFLD | purine-containing compound metabolic process | 74/1882 | 416/18723 | 7.73e-07 | 4.27e-05 | 74 |
| GO:00091507 | Liver | NAFLD | purine ribonucleotide metabolic process | 67/1882 | 368/18723 | 1.10e-06 | 5.44e-05 | 67 |
| GO:00442623 | Liver | NAFLD | cellular carbohydrate metabolic process | 55/1882 | 283/18723 | 1.27e-06 | 6.01e-05 | 55 |
| GO:00091857 | Liver | NAFLD | ribonucleoside diphosphate metabolic process | 28/1882 | 106/18723 | 1.29e-06 | 6.02e-05 | 28 |
| GO:0016051 | Liver | NAFLD | carbohydrate biosynthetic process | 43/1882 | 202/18723 | 1.55e-06 | 6.96e-05 | 43 |
| GO:00060065 | Liver | NAFLD | glucose metabolic process | 42/1882 | 196/18723 | 1.70e-06 | 7.47e-05 | 42 |
| GO:00061637 | Liver | NAFLD | purine nucleotide metabolic process | 70/1882 | 396/18723 | 1.93e-06 | 8.23e-05 | 70 |
| Page: 1 2 3 4 5 6 7 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa041528 | Liver | NAFLD | AMPK signaling pathway | 28/1043 | 121/8465 | 6.26e-04 | 9.78e-03 | 7.88e-03 | 28 |
| hsa0492210 | Liver | NAFLD | Glucagon signaling pathway | 24/1043 | 107/8465 | 2.33e-03 | 2.46e-02 | 1.99e-02 | 24 |
| hsa0415211 | Liver | NAFLD | AMPK signaling pathway | 28/1043 | 121/8465 | 6.26e-04 | 9.78e-03 | 7.88e-03 | 28 |
| hsa0492211 | Liver | NAFLD | Glucagon signaling pathway | 24/1043 | 107/8465 | 2.33e-03 | 2.46e-02 | 1.99e-02 | 24 |
| hsa0415221 | Liver | Cirrhotic | AMPK signaling pathway | 49/2530 | 121/8465 | 7.90e-03 | 2.74e-02 | 1.69e-02 | 49 |
| hsa0492221 | Liver | Cirrhotic | Glucagon signaling pathway | 43/2530 | 107/8465 | 1.42e-02 | 4.35e-02 | 2.68e-02 | 43 |
| hsa0415231 | Liver | Cirrhotic | AMPK signaling pathway | 49/2530 | 121/8465 | 7.90e-03 | 2.74e-02 | 1.69e-02 | 49 |
| hsa0492231 | Liver | Cirrhotic | Glucagon signaling pathway | 43/2530 | 107/8465 | 1.42e-02 | 4.35e-02 | 2.68e-02 | 43 |
| hsa0415241 | Liver | HCC | AMPK signaling pathway | 77/4020 | 121/8465 | 2.32e-04 | 1.11e-03 | 6.18e-04 | 77 |
| hsa0492241 | Liver | HCC | Glucagon signaling pathway | 64/4020 | 107/8465 | 6.70e-03 | 1.87e-02 | 1.04e-02 | 64 |
| hsa0415251 | Liver | HCC | AMPK signaling pathway | 77/4020 | 121/8465 | 2.32e-04 | 1.11e-03 | 6.18e-04 | 77 |
| hsa0492251 | Liver | HCC | Glucagon signaling pathway | 64/4020 | 107/8465 | 6.70e-03 | 1.87e-02 | 1.04e-02 | 64 |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| PFKFB1 | SNV | Missense_Mutation | novel | c.1212C>A | p.Phe404Leu | p.F404L | P16118 | protein_coding | possibly_damaging(0.497) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PFKFB1 | SNV | Missense_Mutation | c.569T>C | p.Leu190Pro | p.L190P | P16118 | protein_coding | possibly_damaging(0.68) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| PFKFB1 | SNV | Missense_Mutation | rs745575470 | c.1100N>G | p.Ser367Cys | p.S367C | P16118 | protein_coding | probably_damaging(1) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR | |
| PFKFB1 | SNV | Missense_Mutation | rs747113593 | c.418N>T | p.Arg140Trp | p.R140W | P16118 | protein_coding | probably_damaging(1) | TCGA-JW-A5VH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | |
| PFKFB1 | SNV | Missense_Mutation | rs147029348 | c.992N>T | p.Ala331Val | p.A331V | P16118 | protein_coding | benign(0.12) | TCGA-VS-A9UZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| PFKFB1 | SNV | Missense_Mutation | rs150213595 | c.122N>T | p.Ser41Phe | p.S41F | P16118 | protein_coding | benign(0.054) | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| PFKFB1 | SNV | Missense_Mutation | c.1092G>T | p.Lys364Asn | p.K364N | P16118 | protein_coding | benign(0.035) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| PFKFB1 | SNV | Missense_Mutation | c.1373G>A | p.Arg458Gln | p.R458Q | P16118 | protein_coding | possibly_damaging(0.514) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| PFKFB1 | SNV | Missense_Mutation | rs771700798 | c.1075C>T | p.Arg359Cys | p.R359C | P16118 | protein_coding | benign(0.279) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PFKFB1 | SNV | Missense_Mutation | novel | c.1352N>T | p.Pro451Leu | p.P451L | P16118 | protein_coding | probably_damaging(0.995) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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