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:1905508 | Colorectum | AD | protein localization to microtubule organizing center | 16/3918 | 35/18723 | 8.76e-04 | 8.51e-03 | 16 |
GO:0034067 | Colorectum | AD | protein localization to Golgi apparatus | 14/3918 | 29/18723 | 9.40e-04 | 8.92e-03 | 14 |
GO:0030901 | Colorectum | AD | midbrain development | 32/3918 | 90/18723 | 9.45e-04 | 8.95e-03 | 32 |
GO:0044091 | Colorectum | AD | membrane biogenesis | 22/3918 | 55/18723 | 9.88e-04 | 9.28e-03 | 22 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:0006903 | Colorectum | AD | vesicle targeting | 19/3918 | 45/18723 | 9.94e-04 | 9.28e-03 | 19 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0033865 | Colorectum | AD | nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0033875 | Colorectum | AD | ribonucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0034032 | Colorectum | AD | purine nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:1901654 | Colorectum | AD | response to ketone | 59/3918 | 194/18723 | 1.14e-03 | 1.04e-02 | 59 |
GO:0034308 | Colorectum | AD | primary alcohol metabolic process | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:0003158 | Colorectum | AD | endothelium development | 44/3918 | 136/18723 | 1.20e-03 | 1.07e-02 | 44 |
GO:0030177 | Colorectum | AD | positive regulation of Wnt signaling pathway | 45/3918 | 140/18723 | 1.23e-03 | 1.09e-02 | 45 |
GO:0042752 | Colorectum | AD | regulation of circadian rhythm | 40/3918 | 121/18723 | 1.24e-03 | 1.09e-02 | 40 |
GO:0010921 | Colorectum | AD | regulation of phosphatase activity | 30/3918 | 84/18723 | 1.24e-03 | 1.09e-02 | 30 |
GO:2001056 | Colorectum | AD | positive regulation of cysteine-type endopeptidase activity | 47/3918 | 148/18723 | 1.30e-03 | 1.14e-02 | 47 |
GO:0043280 | Colorectum | AD | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 42/3918 | 129/18723 | 1.33e-03 | 1.16e-02 | 42 |
GO:0006067 | Colorectum | AD | ethanol metabolic process | 11/3918 | 21/18723 | 1.43e-03 | 1.22e-02 | 11 |
GO:0036010 | Colorectum | AD | protein localization to endosome | 12/3918 | 24/18723 | 1.48e-03 | 1.25e-02 | 12 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa00630 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa01230 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa006301 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa012301 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa012302 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa012003 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa012303 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa012004 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa012005 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa006302 | Colorectum | MSI-H | Glyoxylate and dicarboxylate metabolism | 8/797 | 30/8465 | 5.34e-03 | 4.94e-02 | 4.14e-02 | 8 |
hsa006303 | Colorectum | MSI-H | Glyoxylate and dicarboxylate metabolism | 8/797 | 30/8465 | 5.34e-03 | 4.94e-02 | 4.14e-02 | 8 |
hsa012006 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa000206 | Colorectum | FAP | Citrate cycle (TCA cycle) | 14/1404 | 30/8465 | 1.16e-04 | 1.02e-03 | 6.21e-04 | 14 |
hsa012007 | Colorectum | FAP | Carbon metabolism | 38/1404 | 115/8465 | 1.04e-05 | 1.44e-04 | 8.76e-05 | 38 |
hsa000207 | Colorectum | FAP | Citrate cycle (TCA cycle) | 14/1404 | 30/8465 | 1.16e-04 | 1.02e-03 | 6.21e-04 | 14 |
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 |