Tissue | Expression Dynamics | Abbreviation |
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/CS_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/CS_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/CS_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/CS_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/CS_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/CS_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/CS_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:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
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:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
GO:00064578 | Breast | Precancer | protein folding | 43/1080 | 212/18723 | 3.48e-13 | 7.45e-11 | 43 |
GO:00064138 | Breast | Precancer | translational initiation | 30/1080 | 118/18723 | 3.23e-12 | 5.58e-10 | 30 |
GO:00064179 | Breast | Precancer | regulation of translation | 67/1080 | 468/18723 | 4.71e-12 | 7.64e-10 | 67 |
GO:20001169 | Breast | Precancer | regulation of cysteine-type endopeptidase activity | 43/1080 | 235/18723 | 1.30e-11 | 1.83e-09 | 43 |
GO:00432819 | Breast | Precancer | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/1080 | 209/18723 | 1.59e-11 | 2.07e-09 | 40 |
GO:00160329 | Breast | Precancer | viral process | 58/1080 | 415/18723 | 3.42e-10 | 3.16e-08 | 58 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120051 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0002031 | Liver | HCC | Citrate cycle (TCA cycle) | 28/4020 | 30/8465 | 1.08e-07 | 1.44e-06 | 8.02e-07 | 28 |
hsa0123031 | Liver | HCC | Biosynthesis of amino acids | 53/4020 | 75/8465 | 3.79e-05 | 2.11e-04 | 1.18e-04 | 53 |
hsa0063031 | Liver | HCC | Glyoxylate and dicarboxylate metabolism | 24/4020 | 30/8465 | 2.66e-04 | 1.24e-03 | 6.88e-04 | 24 |
hsa0002012 | Oral cavity | OSCC | Citrate cycle (TCA cycle) | 26/3704 | 30/8465 | 1.38e-06 | 7.46e-06 | 3.80e-06 | 26 |
hsa0120014 | Oral cavity | OSCC | Carbon metabolism | 74/3704 | 115/8465 | 6.10e-06 | 3.05e-05 | 1.55e-05 | 74 |
hsa012305 | Oral cavity | OSCC | Biosynthesis of amino acids | 45/3704 | 75/8465 | 3.27e-03 | 8.23e-03 | 4.19e-03 | 45 |
hsa0002013 | Oral cavity | OSCC | Citrate cycle (TCA cycle) | 26/3704 | 30/8465 | 1.38e-06 | 7.46e-06 | 3.80e-06 | 26 |
hsa0120015 | Oral cavity | OSCC | Carbon metabolism | 74/3704 | 115/8465 | 6.10e-06 | 3.05e-05 | 1.55e-05 | 74 |
hsa0123012 | Oral cavity | OSCC | Biosynthesis of amino acids | 45/3704 | 75/8465 | 3.27e-03 | 8.23e-03 | 4.19e-03 | 45 |
hsa0120022 | Oral cavity | LP | Carbon metabolism | 62/2418 | 115/8465 | 8.38e-09 | 1.39e-07 | 8.99e-08 | 62 |
hsa0002022 | Oral cavity | LP | Citrate cycle (TCA cycle) | 22/2418 | 30/8465 | 4.66e-07 | 5.97e-06 | 3.85e-06 | 22 |
hsa0123022 | Oral cavity | LP | Biosynthesis of amino acids | 36/2418 | 75/8465 | 2.68e-04 | 1.51e-03 | 9.74e-04 | 36 |
hsa01210 | Oral cavity | LP | 2-Oxocarboxylic acid metabolism | 11/2418 | 19/8465 | 7.01e-03 | 2.71e-02 | 1.75e-02 | 11 |
hsa006305 | Oral cavity | LP | Glyoxylate and dicarboxylate metabolism | 15/2418 | 30/8465 | 1.05e-02 | 3.72e-02 | 2.40e-02 | 15 |
hsa0120032 | Oral cavity | LP | Carbon metabolism | 62/2418 | 115/8465 | 8.38e-09 | 1.39e-07 | 8.99e-08 | 62 |
hsa0002032 | Oral cavity | LP | Citrate cycle (TCA cycle) | 22/2418 | 30/8465 | 4.66e-07 | 5.97e-06 | 3.85e-06 | 22 |
hsa0123032 | Oral cavity | LP | Biosynthesis of amino acids | 36/2418 | 75/8465 | 2.68e-04 | 1.51e-03 | 9.74e-04 | 36 |
hsa012101 | Oral cavity | LP | 2-Oxocarboxylic acid metabolism | 11/2418 | 19/8465 | 7.01e-03 | 2.71e-02 | 1.75e-02 | 11 |
hsa0063012 | Oral cavity | LP | Glyoxylate and dicarboxylate metabolism | 15/2418 | 30/8465 | 1.05e-02 | 3.72e-02 | 2.40e-02 | 15 |
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 |
CS | SNV | Missense_Mutation | | c.964N>C | p.Asp322His | p.D322H | O75390 | protein_coding | tolerated(0.05) | benign(0.021) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CS | SNV | Missense_Mutation | novel | c.1363N>C | p.Glu455Gln | p.E455Q | O75390 | protein_coding | tolerated(0.18) | benign(0.04) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CS | SNV | Missense_Mutation | novel | c.820N>C | p.Thr274Pro | p.T274P | O75390 | protein_coding | deleterious(0.03) | probably_damaging(0.976) | TCGA-D8-A1JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine | SD |
CS | insertion | Frame_Shift_Ins | novel | c.323_324insCAGTCAGTCAT | p.Lys109SerfsTer20 | p.K109Sfs*20 | O75390 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
CS | insertion | In_Frame_Ins | novel | c.321_322insTCTAGGAGGACTAAT | p.Lys107_Ala108insSerArgArgThrAsn | p.K107_A108insSRRTN | O75390 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
CS | SNV | Missense_Mutation | novel | c.1374G>T | p.Met458Ile | p.M458I | O75390 | protein_coding | tolerated(0.31) | benign(0) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
CS | SNV | Missense_Mutation | | c.91N>G | p.Thr31Ala | p.T31A | O75390 | protein_coding | tolerated(0.54) | benign(0) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CS | SNV | Missense_Mutation | | c.1327N>T | p.Gly443Cys | p.G443C | O75390 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CS | SNV | Missense_Mutation | rs779289848 | c.274N>T | p.Arg92Cys | p.R92C | O75390 | protein_coding | deleterious(0.03) | benign(0.154) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD |
CS | SNV | Missense_Mutation | rs140943640 | c.370G>A | p.Val124Ile | p.V124I | O75390 | protein_coding | tolerated(0.08) | benign(0.011) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |