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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004639018 | Oral cavity | LP | ribose phosphate biosynthetic process | 65/4623 | 190/18723 | 1.97e-03 | 1.47e-02 | 65 |
GO:190129315 | Oral cavity | LP | nucleoside phosphate biosynthetic process | 84/4623 | 256/18723 | 1.98e-03 | 1.47e-02 | 84 |
GO:0009259110 | Oral cavity | LP | ribonucleotide metabolic process | 120/4623 | 385/18723 | 2.15e-03 | 1.57e-02 | 120 |
GO:000941019 | Oral cavity | LP | response to xenobiotic stimulus | 141/4623 | 462/18723 | 2.33e-03 | 1.68e-02 | 141 |
GO:000916515 | Oral cavity | LP | nucleotide biosynthetic process | 83/4623 | 254/18723 | 2.38e-03 | 1.71e-02 | 83 |
GO:004693918 | Oral cavity | LP | nucleotide phosphorylation | 38/4623 | 101/18723 | 2.60e-03 | 1.83e-02 | 38 |
GO:0006163110 | Oral cavity | LP | purine nucleotide metabolic process | 122/4623 | 396/18723 | 3.10e-03 | 2.11e-02 | 122 |
GO:0009141110 | Oral cavity | LP | nucleoside triphosphate metabolic process | 41/4623 | 112/18723 | 3.25e-03 | 2.18e-02 | 41 |
GO:0009150110 | Oral cavity | LP | purine ribonucleotide metabolic process | 114/4623 | 368/18723 | 3.41e-03 | 2.28e-02 | 114 |
GO:000918519 | Oral cavity | LP | ribonucleoside diphosphate metabolic process | 39/4623 | 106/18723 | 3.64e-03 | 2.42e-02 | 39 |
GO:19012641 | Oral cavity | LP | carbohydrate derivative transport | 31/4623 | 80/18723 | 3.69e-03 | 2.44e-02 | 31 |
GO:00092631 | Oral cavity | LP | deoxyribonucleotide biosynthetic process | 9/4623 | 15/18723 | 3.82e-03 | 2.48e-02 | 9 |
GO:00091623 | Oral cavity | LP | deoxyribonucleoside monophosphate metabolic process | 12/4623 | 23/18723 | 4.14e-03 | 2.66e-02 | 12 |
GO:007252210 | Oral cavity | LP | purine-containing compound biosynthetic process | 66/4623 | 200/18723 | 4.84e-03 | 3.05e-02 | 66 |
GO:0009135110 | Oral cavity | LP | purine nucleoside diphosphate metabolic process | 37/4623 | 103/18723 | 7.09e-03 | 3.98e-02 | 37 |
GO:0009179110 | Oral cavity | LP | purine ribonucleoside diphosphate metabolic process | 37/4623 | 103/18723 | 7.09e-03 | 3.98e-02 | 37 |
GO:000926018 | Oral cavity | LP | ribonucleotide biosynthetic process | 60/4623 | 182/18723 | 7.12e-03 | 4.00e-02 | 60 |
GO:000616410 | Oral cavity | LP | purine nucleotide biosynthetic process | 62/4623 | 191/18723 | 9.12e-03 | 4.86e-02 | 62 |
GO:004603426 | Oral cavity | EOLP | ATP metabolic process | 68/2218 | 277/18723 | 2.72e-09 | 1.71e-07 | 68 |
GO:004693924 | Oral cavity | EOLP | nucleotide phosphorylation | 25/2218 | 101/18723 | 2.38e-04 | 2.33e-03 | 25 |
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 |