Tissue | Expression Dynamics | Abbreviation |
Breast | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Breast/GUK1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Cervix/GUK1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/GUK1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/GUK1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Endometrium/GUK1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/GUK1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/GC/GUK1_pca_on_diff_genes.png) | 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 | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/GUK1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/OralCavity/GUK1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Prostate/GUK1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Skin/GUK1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/GUK1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00091657 | Prostate | BPH | nucleotide biosynthetic process | 60/3107 | 254/18723 | 2.34e-03 | 1.28e-02 | 60 |
GO:19012937 | Prostate | BPH | nucleoside phosphate biosynthetic process | 60/3107 | 256/18723 | 2.83e-03 | 1.49e-02 | 60 |
GO:00467105 | Prostate | BPH | GDP metabolic process | 6/3107 | 11/18723 | 4.49e-03 | 2.19e-02 | 6 |
GO:00091267 | Prostate | BPH | purine nucleoside monophosphate metabolic process | 14/3107 | 44/18723 | 9.52e-03 | 4.03e-02 | 14 |
GO:00460376 | Prostate | BPH | GMP metabolic process | 7/3107 | 16/18723 | 9.80e-03 | 4.13e-02 | 7 |
GO:004603419 | Prostate | Tumor | ATP metabolic process | 122/3246 | 277/18723 | 1.71e-25 | 5.33e-22 | 122 |
GO:000915019 | Prostate | Tumor | purine ribonucleotide metabolic process | 109/3246 | 368/18723 | 3.30e-09 | 1.36e-07 | 109 |
GO:000914418 | Prostate | Tumor | purine nucleoside triphosphate metabolic process | 38/3246 | 88/18723 | 1.28e-08 | 4.66e-07 | 38 |
GO:000925918 | Prostate | Tumor | ribonucleotide metabolic process | 110/3246 | 385/18723 | 2.45e-08 | 8.29e-07 | 110 |
GO:000616319 | Prostate | Tumor | purine nucleotide metabolic process | 111/3246 | 396/18723 | 6.46e-08 | 1.88e-06 | 111 |
GO:001969318 | Prostate | Tumor | ribose phosphate metabolic process | 111/3246 | 396/18723 | 6.46e-08 | 1.88e-06 | 111 |
GO:007252119 | Prostate | Tumor | purine-containing compound metabolic process | 115/3246 | 416/18723 | 8.47e-08 | 2.31e-06 | 115 |
GO:000913216 | Prostate | Tumor | nucleoside diphosphate metabolic process | 46/3246 | 124/18723 | 1.15e-07 | 3.01e-06 | 46 |
GO:000918517 | Prostate | Tumor | ribonucleoside diphosphate metabolic process | 41/3246 | 106/18723 | 1.47e-07 | 3.72e-06 | 41 |
GO:000913518 | Prostate | Tumor | purine nucleoside diphosphate metabolic process | 39/3246 | 103/18723 | 5.60e-07 | 1.19e-05 | 39 |
GO:000917918 | Prostate | Tumor | purine ribonucleoside diphosphate metabolic process | 39/3246 | 103/18723 | 5.60e-07 | 1.19e-05 | 39 |
GO:000914118 | Prostate | Tumor | nucleoside triphosphate metabolic process | 40/3246 | 112/18723 | 2.30e-06 | 3.91e-05 | 40 |
GO:004693916 | Prostate | Tumor | nucleotide phosphorylation | 37/3246 | 101/18723 | 2.73e-06 | 4.54e-05 | 37 |
GO:000915218 | Prostate | Tumor | purine ribonucleotide biosynthetic process | 53/3246 | 169/18723 | 5.62e-06 | 8.63e-05 | 53 |
GO:000926016 | Prostate | Tumor | ribonucleotide biosynthetic process | 54/3246 | 182/18723 | 2.71e-05 | 3.29e-04 | 54 |
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 |