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Gene: POFUT1 |
Gene summary for POFUT1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | POFUT1 | Gene ID | 23509 |
| Gene name | protein O-fucosyltransferase 1 | |
| Gene Alias | DDD2 | |
| Cytomap | 20q11.21 | |
| Gene Type | protein-coding | GO ID | GO:0001525 | UniProtAcc | Q9H488 |
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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 |
| 23509 | POFUT1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.58e-03 | 2.92e-01 | -0.0811 |
| 23509 | POFUT1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.39e-03 | 2.81e-01 | -0.1954 |
| 23509 | POFUT1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.48e-03 | 4.05e-01 | -0.059 |
| 23509 | POFUT1 | HTA11_866_3004761011 | Human | Colorectum | AD | 8.13e-17 | 5.90e-01 | 0.096 |
| 23509 | POFUT1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.43e-02 | 1.62e-01 | 0.0338 |
| 23509 | POFUT1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 7.34e-06 | 3.34e-01 | 0.0674 |
| 23509 | POFUT1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.87e-02 | 2.85e-01 | 0.281 |
| 23509 | POFUT1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.08e-19 | 6.93e-01 | 0.3859 |
| 23509 | POFUT1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 8.30e-08 | 6.55e-01 | 0.2585 |
| 23509 | POFUT1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.56e-06 | 4.49e-01 | 0.3005 |
| 23509 | POFUT1 | A015-C-203 | Human | Colorectum | FAP | 2.46e-02 | 8.03e-03 | -0.1294 |
| 23509 | POFUT1 | A002-C-205 | Human | Colorectum | FAP | 3.64e-02 | -1.37e-01 | -0.1236 |
| 23509 | POFUT1 | A015-C-104 | Human | Colorectum | FAP | 1.45e-03 | -1.25e-01 | -0.1899 |
| 23509 | POFUT1 | A002-C-016 | Human | Colorectum | FAP | 3.03e-02 | -8.44e-02 | 0.0521 |
| 23509 | POFUT1 | A002-C-116 | Human | Colorectum | FAP | 6.27e-04 | -4.72e-02 | -0.0452 |
| 23509 | POFUT1 | LZE4T | Human | Esophagus | ESCC | 2.16e-02 | 1.58e-01 | 0.0811 |
| 23509 | POFUT1 | LZE5T | Human | Esophagus | ESCC | 2.05e-03 | 2.91e-01 | 0.0514 |
| 23509 | POFUT1 | LZE7T | Human | Esophagus | ESCC | 1.36e-04 | 2.73e-01 | 0.0667 |
| 23509 | POFUT1 | LZE20T | Human | Esophagus | ESCC | 5.32e-04 | 1.96e-01 | 0.0662 |
| 23509 | POFUT1 | LZE22T | Human | Esophagus | ESCC | 1.51e-02 | 2.91e-01 | 0.068 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Stomach | WIM |  |
| Stomach | SIM |  |
| Liver | NAFLD |  |
| Liver | Cirrhotic |  |
| Liver | HCC |  |
| ∗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:0019318 | Colorectum | AD | hexose metabolic process | 77/3918 | 237/18723 | 1.96e-05 | 4.01e-04 | 77 |
| GO:0005996 | Colorectum | AD | monosaccharide metabolic process | 80/3918 | 257/18723 | 7.31e-05 | 1.17e-03 | 80 |
| GO:0006486 | Colorectum | AD | protein glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
| GO:0043413 | Colorectum | AD | macromolecule glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
| GO:0070085 | Colorectum | AD | glycosylation | 67/3918 | 240/18723 | 5.78e-03 | 3.67e-02 | 67 |
| GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
| GO:00193182 | Colorectum | MSS | hexose metabolic process | 63/3467 | 237/18723 | 1.32e-03 | 1.25e-02 | 63 |
| GO:00059962 | Colorectum | MSS | monosaccharide metabolic process | 66/3467 | 257/18723 | 2.61e-03 | 2.06e-02 | 66 |
| GO:00193183 | Colorectum | FAP | hexose metabolic process | 58/2622 | 237/18723 | 1.09e-05 | 3.08e-04 | 58 |
| GO:00059963 | Colorectum | FAP | monosaccharide metabolic process | 59/2622 | 257/18723 | 6.79e-05 | 1.28e-03 | 59 |
| GO:00064861 | Colorectum | FAP | protein glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
| GO:00434131 | Colorectum | FAP | macromolecule glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
| GO:00700851 | Colorectum | FAP | glycosylation | 50/2622 | 240/18723 | 2.30e-03 | 1.85e-02 | 50 |
| GO:0009101 | Colorectum | FAP | glycoprotein biosynthetic process | 63/2622 | 317/18723 | 2.31e-03 | 1.86e-02 | 63 |
| GO:00072191 | Colorectum | FAP | Notch signaling pathway | 38/2622 | 172/18723 | 2.56e-03 | 2.01e-02 | 38 |
| GO:0009952 | Colorectum | FAP | anterior/posterior pattern specification | 41/2622 | 201/18723 | 7.82e-03 | 4.63e-02 | 41 |
| GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
| GO:00193189 | Esophagus | ESCC | hexose metabolic process | 147/8552 | 237/18723 | 2.63e-07 | 3.94e-06 | 147 |
| GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
| GO:00700854 | Esophagus | ESCC | glycosylation | 144/8552 | 240/18723 | 5.12e-06 | 5.38e-05 | 144 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| 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 |
| POFUT1 | SNV | Missense_Mutation | c.80G>A | p.Gly27Asp | p.G27D | Q9H488 | protein_coding | tolerated(0.62) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| POFUT1 | SNV | Missense_Mutation | c.643T>A | p.Ser215Thr | p.S215T | Q9H488 | protein_coding | tolerated(0.08) | benign(0.207) | TCGA-C8-A12O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| POFUT1 | SNV | Missense_Mutation | c.262N>G | p.Gln88Glu | p.Q88E | Q9H488 | protein_coding | tolerated(0.33) | benign(0) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| POFUT1 | insertion | Nonsense_Mutation | novel | c.515_516insCAATAACAATGCCTAACATTTATTTATCCAGCACCTGTTGTG | p.Ala172_Ser173insAsnAsnAsnAlaTerHisLeuPheIleGlnHisLeuLeuCys | p.A172_S173insNNNA*HLFIQHLLC | Q9H488 | protein_coding | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | ||
| POFUT1 | insertion | Frame_Shift_Ins | novel | c.978_978+1insCAGCTACTCAGGAGGCT | p.Val327GlnfsTer7 | p.V327Qfs*7 | Q9H488 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| POFUT1 | SNV | Missense_Mutation | c.195N>C | p.Leu65Phe | p.L65F | Q9H488 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2RA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| POFUT1 | SNV | Missense_Mutation | c.1090N>T | p.Arg364Trp | p.R364W | Q9H488 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| POFUT1 | SNV | Missense_Mutation | c.343N>G | p.Thr115Ala | p.T115A | Q9H488 | protein_coding | tolerated(0.73) | benign(0.029) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| POFUT1 | SNV | Missense_Mutation | rs752809888 | c.899C>T | p.Ser300Leu | p.S300L | Q9H488 | protein_coding | tolerated(0.12) | benign(0) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| POFUT1 | SNV | Missense_Mutation | novel | c.620N>T | p.Pro207Leu | p.P207L | Q9H488 | protein_coding | tolerated(0.31) | benign(0.049) | TCGA-AG-3726-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
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