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:00091171 | Colorectum | SER | nucleotide metabolic process | 122/2897 | 489/18723 | 2.50e-08 | 1.76e-06 | 122 |
GO:00091411 | Colorectum | SER | nucleoside triphosphate metabolic process | 41/2897 | 112/18723 | 3.46e-08 | 2.31e-06 | 41 |
GO:00067531 | Colorectum | SER | nucleoside phosphate metabolic process | 122/2897 | 497/18723 | 6.64e-08 | 4.33e-06 | 122 |
GO:00091521 | Colorectum | SER | purine ribonucleotide biosynthetic process | 48/2897 | 169/18723 | 1.27e-05 | 4.01e-04 | 48 |
GO:00092601 | Colorectum | SER | ribonucleotide biosynthetic process | 49/2897 | 182/18723 | 4.85e-05 | 1.19e-03 | 49 |
GO:00091351 | Colorectum | SER | purine nucleoside diphosphate metabolic process | 32/2897 | 103/18723 | 5.21e-05 | 1.25e-03 | 32 |
GO:00091791 | Colorectum | SER | purine ribonucleoside diphosphate metabolic process | 32/2897 | 103/18723 | 5.21e-05 | 1.25e-03 | 32 |
GO:00463901 | Colorectum | SER | ribose phosphate biosynthetic process | 50/2897 | 190/18723 | 7.70e-05 | 1.72e-03 | 50 |
GO:00091851 | Colorectum | SER | ribonucleoside diphosphate metabolic process | 32/2897 | 106/18723 | 9.63e-05 | 2.04e-03 | 32 |
GO:00725221 | Colorectum | SER | purine-containing compound biosynthetic process | 51/2897 | 200/18723 | 1.55e-04 | 3.01e-03 | 51 |
GO:00061641 | Colorectum | SER | purine nucleotide biosynthetic process | 49/2897 | 191/18723 | 1.77e-04 | 3.30e-03 | 49 |
GO:00460371 | Colorectum | SER | GMP metabolic process | 9/2897 | 16/18723 | 2.03e-04 | 3.68e-03 | 9 |
GO:00091321 | Colorectum | SER | nucleoside diphosphate metabolic process | 34/2897 | 124/18723 | 4.53e-04 | 6.60e-03 | 34 |
GO:00469391 | Colorectum | SER | nucleotide phosphorylation | 28/2897 | 101/18723 | 1.15e-03 | 1.31e-02 | 28 |
GO:00091651 | Colorectum | SER | nucleotide biosynthetic process | 58/2897 | 254/18723 | 1.21e-03 | 1.38e-02 | 58 |
GO:19012931 | Colorectum | SER | nucleoside phosphate biosynthetic process | 58/2897 | 256/18723 | 1.47e-03 | 1.59e-02 | 58 |
GO:00091261 | Colorectum | SER | purine nucleoside monophosphate metabolic process | 15/2897 | 44/18723 | 1.77e-03 | 1.82e-02 | 15 |
GO:0009200 | Colorectum | SER | deoxyribonucleoside triphosphate metabolic process | 8/2897 | 17/18723 | 2.12e-03 | 2.06e-02 | 8 |
GO:00091671 | Colorectum | SER | purine ribonucleoside monophosphate metabolic process | 14/2897 | 41/18723 | 2.45e-03 | 2.32e-02 | 14 |
GO:0046710 | Colorectum | SER | GDP metabolic process | 6/2897 | 11/18723 | 3.12e-03 | 2.70e-02 | 6 |
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 |