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Gene: GUK1 |
Gene summary for GUK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GUK1 | Gene ID | 2987 |
| Gene name | guanylate kinase 1 | |
| Gene Alias | GMK | |
| Cytomap | 1q42.13 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q16774 |
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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 |
| 2987 | GUK1 | GSM4909281 | Human | Breast | IDC | 1.58e-37 | 5.31e-01 | 0.21 |
| 2987 | GUK1 | GSM4909282 | Human | Breast | IDC | 3.75e-03 | 2.25e-01 | -0.0288 |
| 2987 | GUK1 | GSM4909286 | Human | Breast | IDC | 1.62e-09 | 3.02e-01 | 0.1081 |
| 2987 | GUK1 | GSM4909287 | Human | Breast | IDC | 3.32e-08 | 2.91e-01 | 0.2057 |
| 2987 | GUK1 | GSM4909288 | Human | Breast | IDC | 8.12e-06 | 2.18e-01 | 0.0988 |
| 2987 | GUK1 | GSM4909289 | Human | Breast | IDC | 2.39e-02 | 4.20e-01 | 0.1064 |
| 2987 | GUK1 | GSM4909290 | Human | Breast | IDC | 3.52e-23 | 5.61e-01 | 0.2096 |
| 2987 | GUK1 | GSM4909291 | Human | Breast | IDC | 1.62e-09 | 4.20e-01 | 0.1753 |
| 2987 | GUK1 | GSM4909293 | Human | Breast | IDC | 1.42e-05 | 2.93e-01 | 0.1581 |
| 2987 | GUK1 | GSM4909294 | Human | Breast | IDC | 4.34e-33 | 4.18e-01 | 0.2022 |
| 2987 | GUK1 | GSM4909296 | Human | Breast | IDC | 2.28e-33 | 2.35e-01 | 0.1524 |
| 2987 | GUK1 | GSM4909297 | Human | Breast | IDC | 2.89e-31 | -3.62e-01 | 0.1517 |
| 2987 | GUK1 | GSM4909301 | Human | Breast | IDC | 1.54e-07 | 1.27e-01 | 0.1577 |
| 2987 | GUK1 | GSM4909302 | Human | Breast | IDC | 8.09e-16 | 3.33e-01 | 0.1545 |
| 2987 | GUK1 | GSM4909304 | Human | Breast | IDC | 6.97e-16 | 3.63e-01 | 0.1636 |
| 2987 | GUK1 | GSM4909306 | Human | Breast | IDC | 3.62e-40 | 5.76e-01 | 0.1564 |
| 2987 | GUK1 | GSM4909307 | Human | Breast | IDC | 3.86e-25 | 3.97e-01 | 0.1569 |
| 2987 | GUK1 | GSM4909308 | Human | Breast | IDC | 1.01e-17 | 4.62e-01 | 0.158 |
| 2987 | GUK1 | GSM4909311 | Human | Breast | IDC | 5.52e-57 | -3.43e-01 | 0.1534 |
| 2987 | GUK1 | GSM4909312 | Human | Breast | IDC | 1.08e-22 | 8.54e-03 | 0.1552 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| 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:00460349 | Breast | Precancer | ATP metabolic process | 82/1080 | 277/18723 | 1.94e-36 | 5.19e-33 | 82 |
| GO:00091448 | Breast | Precancer | purine nucleoside triphosphate metabolic process | 24/1080 | 88/18723 | 9.66e-11 | 1.03e-08 | 24 |
| GO:00091418 | Breast | Precancer | nucleoside triphosphate metabolic process | 26/1080 | 112/18723 | 7.72e-10 | 6.66e-08 | 26 |
| GO:00196938 | Breast | Precancer | ribose phosphate metabolic process | 49/1080 | 396/18723 | 3.81e-07 | 1.78e-05 | 49 |
| GO:00091528 | Breast | Precancer | purine ribonucleotide biosynthetic process | 28/1080 | 169/18723 | 4.17e-07 | 1.89e-05 | 28 |
| GO:00463907 | Breast | Precancer | ribose phosphate biosynthetic process | 30/1080 | 190/18723 | 4.75e-07 | 2.11e-05 | 30 |
| GO:00092607 | Breast | Precancer | ribonucleotide biosynthetic process | 29/1080 | 182/18723 | 6.05e-07 | 2.55e-05 | 29 |
| GO:00091509 | Breast | Precancer | purine ribonucleotide metabolic process | 46/1080 | 368/18723 | 6.47e-07 | 2.71e-05 | 46 |
| GO:00091179 | Breast | Precancer | nucleotide metabolic process | 56/1080 | 489/18723 | 7.40e-07 | 3.00e-05 | 56 |
| GO:00092598 | Breast | Precancer | ribonucleotide metabolic process | 47/1080 | 385/18723 | 9.69e-07 | 3.84e-05 | 47 |
| GO:00469398 | Breast | Precancer | nucleotide phosphorylation | 20/1080 | 101/18723 | 1.07e-06 | 4.18e-05 | 20 |
| GO:00067539 | Breast | Precancer | nucleoside phosphate metabolic process | 56/1080 | 497/18723 | 1.24e-06 | 4.70e-05 | 56 |
| GO:00061639 | Breast | Precancer | purine nucleotide metabolic process | 47/1080 | 396/18723 | 2.14e-06 | 7.50e-05 | 47 |
| GO:00091858 | Breast | Precancer | ribonucleoside diphosphate metabolic process | 20/1080 | 106/18723 | 2.37e-06 | 8.17e-05 | 20 |
| GO:00061647 | Breast | Precancer | purine nucleotide biosynthetic process | 28/1080 | 191/18723 | 5.04e-06 | 1.52e-04 | 28 |
| GO:00091328 | Breast | Precancer | nucleoside diphosphate metabolic process | 21/1080 | 124/18723 | 7.98e-06 | 2.17e-04 | 21 |
| GO:00725219 | Breast | Precancer | purine-containing compound metabolic process | 47/1080 | 416/18723 | 8.19e-06 | 2.20e-04 | 47 |
| GO:00725227 | Breast | Precancer | purine-containing compound biosynthetic process | 28/1080 | 200/18723 | 1.23e-05 | 3.17e-04 | 28 |
| GO:00091359 | Breast | Precancer | purine nucleoside diphosphate metabolic process | 18/1080 | 103/18723 | 2.24e-05 | 5.20e-04 | 18 |
| GO:00091799 | Breast | Precancer | purine ribonucleoside diphosphate metabolic process | 18/1080 | 103/18723 | 2.24e-05 | 5.20e-04 | 18 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa012325 | Esophagus | ESCC | Nucleotide metabolism | 59/4205 | 85/8465 | 1.67e-04 | 6.58e-04 | 3.37e-04 | 59 |
| hsa0123212 | Esophagus | ESCC | Nucleotide metabolism | 59/4205 | 85/8465 | 1.67e-04 | 6.58e-04 | 3.37e-04 | 59 |
| hsa01232 | Liver | Cirrhotic | Nucleotide metabolism | 39/2530 | 85/8465 | 1.27e-03 | 6.73e-03 | 4.15e-03 | 39 |
| hsa012321 | Liver | Cirrhotic | Nucleotide metabolism | 39/2530 | 85/8465 | 1.27e-03 | 6.73e-03 | 4.15e-03 | 39 |
| hsa012322 | Liver | HCC | Nucleotide metabolism | 59/4020 | 85/8465 | 3.30e-05 | 1.88e-04 | 1.04e-04 | 59 |
| hsa012323 | Liver | HCC | Nucleotide metabolism | 59/4020 | 85/8465 | 3.30e-05 | 1.88e-04 | 1.04e-04 | 59 |
| hsa012324 | Oral cavity | OSCC | Nucleotide metabolism | 54/3704 | 85/8465 | 1.78e-04 | 5.95e-04 | 3.03e-04 | 54 |
| hsa0123211 | Oral cavity | OSCC | Nucleotide metabolism | 54/3704 | 85/8465 | 1.78e-04 | 5.95e-04 | 3.03e-04 | 54 |
| hsa0123221 | Oral cavity | LP | Nucleotide metabolism | 42/2418 | 85/8465 | 3.62e-05 | 2.36e-04 | 1.52e-04 | 42 |
| hsa0123231 | Oral cavity | LP | Nucleotide metabolism | 42/2418 | 85/8465 | 3.62e-05 | 2.36e-04 | 1.52e-04 | 42 |
| 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 |
| GUK1 | SNV | Missense_Mutation | c.417C>G | p.Ile139Met | p.I139M | Q16774 | protein_coding | deleterious(0.04) | benign(0.301) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| GUK1 | insertion | Frame_Shift_Ins | novel | c.606_607insCAGGACCAGGGCAGCAG | p.Ile209ArgfsTer66 | p.I209Rfs*66 | Q16774 | protein_coding | TCGA-OL-A6VO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | ||
| GUK1 | SNV | Missense_Mutation | rs752446312 | c.350N>A | p.Arg117His | p.R117H | Q16774 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-A5-A7WJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| GUK1 | SNV | Missense_Mutation | c.565N>T | p.Arg189Cys | p.R189C | Q16774 | protein_coding | tolerated_low_confidence(0.29) | benign(0.118) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| GUK1 | SNV | Missense_Mutation | c.340N>A | p.Ala114Thr | p.A114T | Q16774 | protein_coding | tolerated(0.17) | benign(0.062) | TCGA-AX-A05S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unspecific | Carboplatin & Paclitaxel | PD | |
| GUK1 | SNV | Missense_Mutation | rs575750582 | c.311C>T | p.Thr104Met | p.T104M | Q16774 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| GUK1 | SNV | Missense_Mutation | c.652N>T | p.Arg218Trp | p.R218W | Q16774 | protein_coding | tolerated_low_confidence(0.14) | possibly_damaging(0.685) | TCGA-BG-A0M7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD | |
| GUK1 | SNV | Missense_Mutation | rs770258206 | c.257N>C | p.Ile86Thr | p.I86T | Q16774 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-BG-A220-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GUK1 | SNV | Missense_Mutation | c.286N>A | p.Glu96Lys | p.E96K | Q16774 | protein_coding | tolerated(0.07) | benign(0.122) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| GUK1 | SNV | Missense_Mutation | rs752446312 | c.350N>A | p.Arg117His | p.R117H | Q16774 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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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