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:00092256 | Esophagus | ESCC | nucleotide-sugar metabolic process | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:0009152110 | Esophagus | ESCC | purine ribonucleotide biosynthetic process | 103/8552 | 169/18723 | 4.40e-05 | 3.51e-04 | 103 |
GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
GO:000616417 | Esophagus | ESCC | purine nucleotide biosynthetic process | 113/8552 | 191/18723 | 1.16e-04 | 8.04e-04 | 113 |
GO:000913219 | Esophagus | ESCC | nucleoside diphosphate metabolic process | 77/8552 | 124/18723 | 1.65e-04 | 1.09e-03 | 77 |
GO:000920012 | Esophagus | ESCC | deoxyribonucleoside triphosphate metabolic process | 15/8552 | 17/18723 | 3.48e-04 | 2.03e-03 | 15 |
GO:000918520 | Esophagus | ESCC | ribonucleoside diphosphate metabolic process | 66/8552 | 106/18723 | 4.21e-04 | 2.39e-03 | 66 |
GO:00091234 | Esophagus | ESCC | nucleoside monophosphate metabolic process | 49/8552 | 76/18723 | 7.30e-04 | 3.80e-03 | 49 |
GO:000926212 | Esophagus | ESCC | deoxyribonucleotide metabolic process | 31/8552 | 44/18723 | 7.70e-04 | 3.99e-03 | 31 |
GO:000913520 | Esophagus | ESCC | purine nucleoside diphosphate metabolic process | 63/8552 | 103/18723 | 1.10e-03 | 5.52e-03 | 63 |
GO:000917920 | Esophagus | ESCC | purine ribonucleoside diphosphate metabolic process | 63/8552 | 103/18723 | 1.10e-03 | 5.52e-03 | 63 |
GO:00092633 | Esophagus | ESCC | deoxyribonucleotide biosynthetic process | 13/8552 | 15/18723 | 1.31e-03 | 6.26e-03 | 13 |
GO:00091615 | Esophagus | ESCC | ribonucleoside monophosphate metabolic process | 38/8552 | 58/18723 | 1.81e-03 | 8.32e-03 | 38 |
GO:001969212 | Esophagus | ESCC | deoxyribose phosphate metabolic process | 29/8552 | 42/18723 | 1.87e-03 | 8.46e-03 | 29 |
GO:004693919 | Esophagus | ESCC | nucleotide phosphorylation | 61/8552 | 101/18723 | 2.03e-03 | 9.08e-03 | 61 |
GO:00091269 | Esophagus | ESCC | purine nucleoside monophosphate metabolic process | 30/8552 | 44/18723 | 2.14e-03 | 9.54e-03 | 30 |
GO:000939412 | Esophagus | ESCC | 2'-deoxyribonucleotide metabolic process | 27/8552 | 40/18723 | 4.39e-03 | 1.73e-02 | 27 |
GO:00091678 | Esophagus | ESCC | purine ribonucleoside monophosphate metabolic process | 27/8552 | 41/18723 | 7.31e-03 | 2.63e-02 | 27 |
GO:00092653 | Esophagus | ESCC | 2'-deoxyribonucleotide biosynthetic process | 10/8552 | 12/18723 | 8.94e-03 | 3.12e-02 | 10 |
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 |