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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/UQCRB_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/UQCRB_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/UQCRB_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/UQCRB_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/UQCRB_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:00460349 | Breast | Precancer | ATP metabolic process | 82/1080 | 277/18723 | 1.94e-36 | 5.19e-33 | 82 |
GO:00061199 | Breast | Precancer | oxidative phosphorylation | 53/1080 | 141/18723 | 1.15e-29 | 2.04e-26 | 53 |
GO:00090608 | Breast | Precancer | aerobic respiration | 58/1080 | 189/18723 | 5.69e-27 | 7.62e-24 | 58 |
GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
GO:00196468 | Breast | Precancer | aerobic electron transport chain | 34/1080 | 87/18723 | 3.95e-20 | 2.64e-17 | 34 |
GO:00427738 | Breast | Precancer | ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
GO:00427758 | Breast | Precancer | mitochondrial ATP synthesis coupled electron transport | 35/1080 | 95/18723 | 1.08e-19 | 5.76e-17 | 35 |
GO:00229048 | Breast | Precancer | respiratory electron transport chain | 35/1080 | 114/18723 | 8.51e-17 | 3.26e-14 | 35 |
GO:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
GO:00061228 | Breast | Precancer | mitochondrial electron transport, ubiquinol to cytochrome c | 7/1080 | 11/18723 | 5.61e-07 | 2.46e-05 | 7 |
GO:004603414 | Breast | IDC | ATP metabolic process | 85/1434 | 277/18723 | 6.42e-30 | 1.82e-26 | 85 |
GO:000611913 | Breast | IDC | oxidative phosphorylation | 56/1434 | 141/18723 | 1.87e-26 | 3.53e-23 | 56 |
GO:000906013 | Breast | IDC | aerobic respiration | 61/1434 | 189/18723 | 4.42e-23 | 6.27e-20 | 61 |
GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
GO:004533313 | Breast | IDC | cellular respiration | 62/1434 | 230/18723 | 5.98e-19 | 4.25e-16 | 62 |
GO:004277313 | Breast | IDC | ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
GO:004277513 | Breast | IDC | mitochondrial ATP synthesis coupled electron transport | 38/1434 | 95/18723 | 1.65e-18 | 9.36e-16 | 38 |
GO:001964613 | Breast | IDC | aerobic electron transport chain | 36/1434 | 87/18723 | 3.48e-18 | 1.80e-15 | 36 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0493225 | Endometrium | EEC | Non-alcoholic fatty liver disease | 67/1237 | 155/8465 | 3.53e-18 | 1.06e-16 | 7.87e-17 | 67 |
hsa0502225 | Endometrium | EEC | Pathways of neurodegeneration - multiple diseases | 140/1237 | 476/8465 | 9.49e-18 | 2.60e-16 | 1.94e-16 | 140 |
hsa0471427 | Endometrium | EEC | Thermogenesis | 85/1237 | 232/8465 | 2.79e-17 | 7.05e-16 | 5.26e-16 | 85 |
hsa0426023 | Endometrium | EEC | Cardiac muscle contraction | 28/1237 | 87/8465 | 2.49e-05 | 2.73e-04 | 2.03e-04 | 28 |
hsa0501236 | Endometrium | EEC | Parkinson disease | 117/1237 | 266/8465 | 5.97e-32 | 9.82e-30 | 7.32e-30 | 117 |
hsa0501635 | Endometrium | EEC | Huntington disease | 120/1237 | 306/8465 | 3.86e-27 | 4.23e-25 | 3.15e-25 | 120 |
hsa0502035 | Endometrium | EEC | Prion disease | 111/1237 | 273/8465 | 1.01e-26 | 8.27e-25 | 6.16e-25 | 111 |
hsa0019035 | Endometrium | EEC | Oxidative phosphorylation | 70/1237 | 134/8465 | 6.33e-25 | 3.47e-23 | 2.59e-23 | 70 |
hsa0520836 | Endometrium | EEC | Chemical carcinogenesis - reactive oxygen species | 94/1237 | 223/8465 | 4.11e-24 | 1.93e-22 | 1.44e-22 | 94 |
hsa0501435 | Endometrium | EEC | Amyotrophic lateral sclerosis | 128/1237 | 364/8465 | 9.83e-24 | 4.04e-22 | 3.01e-22 | 128 |
hsa0541535 | Endometrium | EEC | Diabetic cardiomyopathy | 86/1237 | 203/8465 | 2.59e-22 | 9.46e-21 | 7.05e-21 | 86 |
hsa0501035 | Endometrium | EEC | Alzheimer disease | 126/1237 | 384/8465 | 2.25e-20 | 7.40e-19 | 5.52e-19 | 126 |
hsa0493235 | Endometrium | EEC | Non-alcoholic fatty liver disease | 67/1237 | 155/8465 | 3.53e-18 | 1.06e-16 | 7.87e-17 | 67 |
hsa0502235 | Endometrium | EEC | Pathways of neurodegeneration - multiple diseases | 140/1237 | 476/8465 | 9.49e-18 | 2.60e-16 | 1.94e-16 | 140 |
hsa0471436 | Endometrium | EEC | Thermogenesis | 85/1237 | 232/8465 | 2.79e-17 | 7.05e-16 | 5.26e-16 | 85 |
hsa0426033 | Endometrium | EEC | Cardiac muscle contraction | 28/1237 | 87/8465 | 2.49e-05 | 2.73e-04 | 2.03e-04 | 28 |
hsa0501239 | Esophagus | HGIN | Parkinson disease | 124/1383 | 266/8465 | 5.95e-32 | 9.70e-30 | 7.70e-30 | 124 |
hsa0501630 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa0502030 | Esophagus | HGIN | Prion disease | 117/1383 | 273/8465 | 4.15e-26 | 3.38e-24 | 2.69e-24 | 117 |
hsa0501430 | Esophagus | HGIN | Amyotrophic lateral sclerosis | 140/1383 | 364/8465 | 2.13e-25 | 1.16e-23 | 9.19e-24 | 140 |
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 |
UQCRB | SNV | Missense_Mutation | | c.146N>A | p.Arg49Lys | p.R49K | P14927 | protein_coding | tolerated(0.22) | possibly_damaging(0.487) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRB | SNV | Missense_Mutation | | c.39N>T | p.Trp13Cys | p.W13C | P14927 | protein_coding | deleterious(0.02) | possibly_damaging(0.905) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
UQCRB | SNV | Missense_Mutation | | c.130G>T | p.Val44Leu | p.V44L | P14927 | protein_coding | deleterious(0.03) | benign(0.255) | TCGA-Q1-A6DT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
UQCRB | SNV | Missense_Mutation | novel | c.184C>T | p.Arg62Cys | p.R62C | P14927 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
UQCRB | SNV | Missense_Mutation | rs749174411 | c.53N>A | p.Arg18Gln | p.R18Q | P14927 | protein_coding | tolerated(0.19) | benign(0.145) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
UQCRB | SNV | Missense_Mutation | | c.223A>C | p.Ile75Leu | p.I75L | P14927 | protein_coding | tolerated(0.29) | possibly_damaging(0.718) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UQCRB | SNV | Missense_Mutation | novel | c.185N>A | p.Arg62His | p.R62H | P14927 | protein_coding | deleterious(0.03) | possibly_damaging(0.693) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
UQCRB | SNV | Missense_Mutation | novel | c.60G>C | p.Trp20Cys | p.W20C | P14927 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A2HG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UQCRB | SNV | Missense_Mutation | novel | c.233A>C | p.Lys78Thr | p.K78T | P14927 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
UQCRB | SNV | Missense_Mutation | rs376775585 | c.79N>G | p.Phe27Val | p.F27V | P14927 | protein_coding | deleterious(0.02) | possibly_damaging(0.795) | TCGA-G3-A5SL-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |