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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:00319606 | Liver | NAFLD | response to corticosteroid | 37/1882 | 167/18723 | 3.03e-06 | 1.23e-04 | 37 |
| GO:00061093 | Liver | NAFLD | regulation of carbohydrate metabolic process | 38/1882 | 178/18723 | 5.71e-06 | 2.04e-04 | 38 |
| GO:00091357 | Liver | NAFLD | purine nucleoside diphosphate metabolic process | 26/1882 | 103/18723 | 7.51e-06 | 2.55e-04 | 26 |
| GO:00091797 | Liver | NAFLD | purine ribonucleoside diphosphate metabolic process | 26/1882 | 103/18723 | 7.51e-06 | 2.55e-04 | 26 |
| GO:00060907 | Liver | NAFLD | pyruvate metabolic process | 26/1882 | 106/18723 | 1.31e-05 | 3.93e-04 | 26 |
| GO:0046364 | Liver | NAFLD | monosaccharide biosynthetic process | 22/1882 | 82/18723 | 1.31e-05 | 3.93e-04 | 22 |
| GO:0019319 | Liver | NAFLD | hexose biosynthetic process | 21/1882 | 78/18723 | 1.93e-05 | 5.52e-04 | 21 |
| GO:00460317 | Liver | NAFLD | ADP metabolic process | 23/1882 | 90/18723 | 2.00e-05 | 5.64e-04 | 23 |
| GO:00163115 | Liver | NAFLD | dephosphorylation | 69/1882 | 417/18723 | 2.27e-05 | 6.23e-04 | 69 |
| GO:00091327 | Liver | NAFLD | nucleoside diphosphate metabolic process | 28/1882 | 124/18723 | 3.22e-05 | 8.40e-04 | 28 |
| GO:0006094 | Liver | NAFLD | gluconeogenesis | 20/1882 | 75/18723 | 3.52e-05 | 8.95e-04 | 20 |
| GO:00060967 | Liver | NAFLD | glycolytic process | 21/1882 | 81/18723 | 3.58e-05 | 9.07e-04 | 21 |
| GO:00311003 | Liver | NAFLD | animal organ regeneration | 20/1882 | 76/18723 | 4.33e-05 | 1.06e-03 | 20 |
| GO:00067577 | Liver | NAFLD | ATP generation from ADP | 21/1882 | 82/18723 | 4.37e-05 | 1.06e-03 | 21 |
| GO:00106753 | Liver | NAFLD | regulation of cellular carbohydrate metabolic process | 31/1882 | 146/18723 | 4.47e-05 | 1.08e-03 | 31 |
| GO:00336747 | Liver | NAFLD | positive regulation of kinase activity | 74/1882 | 467/18723 | 5.16e-05 | 1.19e-03 | 74 |
| GO:00160526 | Liver | NAFLD | carbohydrate catabolic process | 32/1882 | 154/18723 | 5.29e-05 | 1.21e-03 | 32 |
| GO:00466837 | Liver | NAFLD | response to organophosphorus | 28/1882 | 131/18723 | 9.05e-05 | 1.82e-03 | 28 |
| GO:00109063 | Liver | NAFLD | regulation of glucose metabolic process | 26/1882 | 119/18723 | 1.09e-04 | 2.13e-03 | 26 |
| GO:00061657 | Liver | NAFLD | nucleoside diphosphate phosphorylation | 22/1882 | 99/18723 | 2.77e-04 | 4.46e-03 | 22 |
| 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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