Tissue | Expression Dynamics | Abbreviation |
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/UQCRHL_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/UQCRHL_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/UQCRHL_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/UQCRHL_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0042773110 | Esophagus | ESCC | ATP synthesis coupled electron transport | 74/8552 | 95/18723 | 1.28e-10 | 3.77e-09 | 74 |
GO:0042775110 | Esophagus | ESCC | mitochondrial ATP synthesis coupled electron transport | 74/8552 | 95/18723 | 1.28e-10 | 3.77e-09 | 74 |
GO:0019646110 | Esophagus | ESCC | aerobic electron transport chain | 67/8552 | 87/18723 | 2.30e-09 | 5.14e-08 | 67 |
GO:0006122110 | Esophagus | ESCC | mitochondrial electron transport, ubiquinol to cytochrome c | 10/8552 | 11/18723 | 2.54e-03 | 1.08e-02 | 10 |
GO:000609112 | Liver | Cirrhotic | generation of precursor metabolites and energy | 238/4634 | 490/18723 | 6.85e-31 | 1.07e-27 | 238 |
GO:002290012 | Liver | Cirrhotic | electron transport chain | 111/4634 | 175/18723 | 1.94e-27 | 1.52e-24 | 111 |
GO:004603412 | Liver | Cirrhotic | ATP metabolic process | 144/4634 | 277/18723 | 1.04e-22 | 5.02e-20 | 144 |
GO:00427737 | Liver | Cirrhotic | ATP synthesis coupled electron transport | 69/4634 | 95/18723 | 1.12e-22 | 5.02e-20 | 69 |
GO:00427757 | Liver | Cirrhotic | mitochondrial ATP synthesis coupled electron transport | 69/4634 | 95/18723 | 1.12e-22 | 5.02e-20 | 69 |
GO:00090607 | Liver | Cirrhotic | aerobic respiration | 109/4634 | 189/18723 | 3.88e-22 | 1.62e-19 | 109 |
GO:00229047 | Liver | Cirrhotic | respiratory electron transport chain | 77/4634 | 114/18723 | 5.84e-22 | 2.29e-19 | 77 |
GO:00196467 | Liver | Cirrhotic | aerobic electron transport chain | 63/4634 | 87/18723 | 1.04e-20 | 3.43e-18 | 63 |
GO:00453337 | Liver | Cirrhotic | cellular respiration | 122/4634 | 230/18723 | 2.15e-20 | 6.43e-18 | 122 |
GO:001598012 | Liver | Cirrhotic | energy derivation by oxidation of organic compounds | 154/4634 | 318/18723 | 3.11e-20 | 8.87e-18 | 154 |
GO:00061197 | Liver | Cirrhotic | oxidative phosphorylation | 86/4634 | 141/18723 | 6.08e-20 | 1.66e-17 | 86 |
GO:00061227 | Liver | Cirrhotic | mitochondrial electron transport, ubiquinol to cytochrome c | 10/4634 | 11/18723 | 7.30e-06 | 1.13e-04 | 10 |
GO:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
GO:000906012 | Liver | HCC | aerobic respiration | 147/7958 | 189/18723 | 3.13e-23 | 6.61e-21 | 147 |
GO:004533312 | Liver | HCC | cellular respiration | 171/7958 | 230/18723 | 6.35e-23 | 1.26e-20 | 171 |
GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05012211 | Esophagus | ESCC | Parkinson disease | 201/4205 | 266/8465 | 1.56e-18 | 8.72e-17 | 4.46e-17 | 201 |
hsa05208211 | Esophagus | ESCC | Chemical carcinogenesis - reactive oxygen species | 168/4205 | 223/8465 | 1.83e-15 | 6.81e-14 | 3.49e-14 | 168 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa04932210 | Esophagus | ESCC | Non-alcoholic fatty liver disease | 122/4205 | 155/8465 | 5.69e-14 | 1.59e-12 | 8.14e-13 | 122 |
hsa05020210 | Esophagus | ESCC | Prion disease | 193/4205 | 273/8465 | 6.42e-13 | 1.34e-11 | 6.89e-12 | 193 |
hsa00190210 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa04714211 | Esophagus | ESCC | Thermogenesis | 163/4205 | 232/8465 | 9.22e-11 | 1.14e-09 | 5.86e-10 | 163 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05012310 | Esophagus | ESCC | Parkinson disease | 201/4205 | 266/8465 | 1.56e-18 | 8.72e-17 | 4.46e-17 | 201 |
hsa05208310 | Esophagus | ESCC | Chemical carcinogenesis - reactive oxygen species | 168/4205 | 223/8465 | 1.83e-15 | 6.81e-14 | 3.49e-14 | 168 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0493238 | Esophagus | ESCC | Non-alcoholic fatty liver disease | 122/4205 | 155/8465 | 5.69e-14 | 1.59e-12 | 8.14e-13 | 122 |
hsa0502038 | Esophagus | ESCC | Prion disease | 193/4205 | 273/8465 | 6.42e-13 | 1.34e-11 | 6.89e-12 | 193 |
hsa0019038 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
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 |
UQCRHL | SNV | Missense_Mutation | novel | c.13N>A | p.Asp5Asn | p.D5N | A0A096LP55 | protein_coding | tolerated(0.12) | benign(0.1) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
UQCRHL | SNV | Missense_Mutation | novel | c.176C>G | p.Ser59Cys | p.S59C | A0A096LP55 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-VS-A950-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
UQCRHL | SNV | Missense_Mutation | rs774153442 | c.244N>A | p.Val82Met | p.V82M | A0A096LP55 | protein_coding | tolerated(0.06) | benign(0.037) | TCGA-A5-A0G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRHL | SNV | Missense_Mutation | novel | c.195G>T | p.Glu65Asp | p.E65D | A0A096LP55 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UQCRHL | SNV | Missense_Mutation | rs780112142 | c.179N>A | p.Arg60Gln | p.R60Q | A0A096LP55 | protein_coding | tolerated(0.06) | benign(0.01) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
UQCRHL | SNV | Missense_Mutation | rs764654397 | c.34G>A | p.Glu12Lys | p.E12K | A0A096LP55 | protein_coding | tolerated(0.88) | benign(0.035) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
UQCRHL | SNV | Missense_Mutation | novel | c.86N>A | p.Pro29His | p.P29H | A0A096LP55 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UQCRHL | insertion | Nonsense_Mutation | novel | c.31_32insAATAAGAAACAAATGGTACAT | p.Thr11delinsLysTerGluThrAsnGlyThrSer | p.T11delinsK*ETNGTS | A0A096LP55 | protein_coding | | | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |