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:001631114 | Oral cavity | EOLP | dephosphorylation | 85/2218 | 417/18723 | 3.19e-07 | 9.47e-06 | 85 |
GO:200011723 | Oral cavity | EOLP | negative regulation of cysteine-type endopeptidase activity | 28/2218 | 86/18723 | 3.25e-07 | 9.60e-06 | 28 |
GO:001605523 | Oral cavity | EOLP | Wnt signaling pathway | 89/2218 | 444/18723 | 3.66e-07 | 1.06e-05 | 89 |
GO:003010023 | Oral cavity | EOLP | regulation of endocytosis | 51/2218 | 211/18723 | 4.24e-07 | 1.19e-05 | 51 |
GO:019873823 | Oral cavity | EOLP | cell-cell signaling by wnt | 89/2218 | 446/18723 | 4.49e-07 | 1.25e-05 | 89 |
GO:000189023 | Oral cavity | EOLP | placenta development | 39/2218 | 144/18723 | 4.49e-07 | 1.25e-05 | 39 |
GO:000660524 | Oral cavity | EOLP | protein targeting | 68/2218 | 314/18723 | 4.95e-07 | 1.34e-05 | 68 |
GO:003243426 | Oral cavity | EOLP | regulation of proteasomal ubiquitin-dependent protein catabolic process | 37/2218 | 134/18723 | 5.22e-07 | 1.40e-05 | 37 |
GO:00466314 | Oral cavity | EOLP | alpha-beta T cell activation | 41/2218 | 156/18723 | 5.51e-07 | 1.47e-05 | 41 |
GO:190210514 | Oral cavity | EOLP | regulation of leukocyte differentiation | 62/2218 | 279/18723 | 6.18e-07 | 1.60e-05 | 62 |
GO:00466344 | Oral cavity | EOLP | regulation of alpha-beta T cell activation | 31/2218 | 104/18723 | 7.06e-07 | 1.81e-05 | 31 |
GO:001821015 | Oral cavity | EOLP | peptidyl-threonine modification | 35/2218 | 125/18723 | 7.33e-07 | 1.85e-05 | 35 |
GO:200105623 | Oral cavity | EOLP | positive regulation of cysteine-type endopeptidase activity | 39/2218 | 148/18723 | 9.60e-07 | 2.38e-05 | 39 |
GO:001810715 | Oral cavity | EOLP | peptidyl-threonine phosphorylation | 33/2218 | 116/18723 | 1.02e-06 | 2.51e-05 | 33 |
GO:004573226 | Oral cavity | EOLP | positive regulation of protein catabolic process | 53/2218 | 231/18723 | 1.43e-06 | 3.42e-05 | 53 |
GO:001635815 | Oral cavity | EOLP | dendrite development | 55/2218 | 243/18723 | 1.43e-06 | 3.42e-05 | 55 |
GO:003009812 | Oral cavity | EOLP | lymphocyte differentiation | 76/2218 | 374/18723 | 1.50e-06 | 3.55e-05 | 76 |
GO:000189222 | Oral cavity | EOLP | embryonic placenta development | 26/2218 | 82/18723 | 1.50e-06 | 3.55e-05 | 26 |
GO:004586125 | Oral cavity | EOLP | negative regulation of proteolysis | 72/2218 | 351/18723 | 1.96e-06 | 4.49e-05 | 72 |
GO:004269214 | Oral cavity | EOLP | muscle cell differentiation | 77/2218 | 384/18723 | 2.18e-06 | 4.91e-05 | 77 |
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 |