Tissue | Expression Dynamics | Abbreviation |
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/COL1A2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/COL1A2_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/COL1A2_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/COL1A2_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/COL1A2_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/COL1A2_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/COL1A2_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/COL1A2_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:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
GO:00072656 | Cervix | CC | Ras protein signal transduction | 79/2311 | 337/18723 | 9.49e-09 | 7.77e-07 | 79 |
GO:00435893 | Cervix | CC | skin morphogenesis | 8/2311 | 11/18723 | 6.22e-06 | 1.51e-04 | 8 |
GO:00072666 | Cervix | CC | Rho protein signal transduction | 35/2311 | 137/18723 | 1.77e-05 | 3.33e-04 | 35 |
GO:00071786 | Cervix | CC | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2311 | 355/18723 | 2.39e-04 | 2.67e-03 | 67 |
GO:00011016 | Cervix | CC | response to acid chemical | 31/2311 | 135/18723 | 4.16e-04 | 4.22e-03 | 31 |
GO:00715595 | Cervix | CC | response to transforming growth factor beta | 50/2311 | 256/18723 | 6.31e-04 | 5.91e-03 | 50 |
GO:00715605 | Cervix | CC | cellular response to transforming growth factor beta stimulus | 49/2311 | 250/18723 | 6.55e-04 | 6.05e-03 | 49 |
GO:00712292 | Cervix | CC | cellular response to acid chemical | 20/2311 | 80/18723 | 1.40e-03 | 1.10e-02 | 20 |
GO:00015037 | Cervix | CC | ossification | 71/2311 | 408/18723 | 1.67e-03 | 1.28e-02 | 71 |
GO:00712301 | Cervix | CC | cellular response to amino acid stimulus | 18/2311 | 71/18723 | 2.01e-03 | 1.47e-02 | 18 |
GO:0070206 | Cervix | CC | protein trimerization | 7/2311 | 17/18723 | 2.72e-03 | 1.85e-02 | 7 |
GO:00432004 | Cervix | CC | response to amino acid | 25/2311 | 116/18723 | 3.59e-03 | 2.30e-02 | 25 |
GO:00071795 | Cervix | CC | transforming growth factor beta receptor signaling pathway | 38/2311 | 198/18723 | 3.62e-03 | 2.31e-02 | 38 |
GO:0030198 | Cervix | CC | extracellular matrix organization | 52/2311 | 301/18723 | 7.43e-03 | 3.98e-02 | 52 |
GO:0043062 | Cervix | CC | extracellular structure organization | 52/2311 | 302/18723 | 7.92e-03 | 4.17e-02 | 52 |
GO:0031214 | Cervix | CC | biomineral tissue development | 32/2311 | 169/18723 | 8.73e-03 | 4.48e-02 | 32 |
GO:0045229 | Cervix | CC | external encapsulating structure organization | 52/2311 | 304/18723 | 9.00e-03 | 4.57e-02 | 52 |
GO:0030282 | Cervix | CC | bone mineralization | 24/2311 | 119/18723 | 1.00e-02 | 4.89e-02 | 24 |
GO:0110148 | Cervix | CC | biomineralization | 32/2311 | 171/18723 | 1.04e-02 | 4.97e-02 | 32 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541522 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0451041 | Liver | HCC | Focal adhesion | 125/4020 | 203/8465 | 3.12e-05 | 1.88e-04 | 1.04e-04 | 125 |
hsa051652 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
hsa0520521 | Liver | HCC | Proteoglycans in cancer | 121/4020 | 205/8465 | 5.22e-04 | 2.18e-03 | 1.21e-03 | 121 |
hsa049334 | Liver | HCC | AGE-RAGE signaling pathway in diabetic complications | 62/4020 | 100/8465 | 2.35e-03 | 7.95e-03 | 4.42e-03 | 62 |
hsa049262 | Liver | HCC | Relaxin signaling pathway | 75/4020 | 129/8465 | 9.33e-03 | 2.46e-02 | 1.37e-02 | 75 |
hsa046112 | Liver | HCC | Platelet activation | 71/4020 | 124/8465 | 1.77e-02 | 4.15e-02 | 2.31e-02 | 71 |
hsa0541532 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0451051 | Liver | HCC | Focal adhesion | 125/4020 | 203/8465 | 3.12e-05 | 1.88e-04 | 1.04e-04 | 125 |
hsa051653 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
hsa0520531 | Liver | HCC | Proteoglycans in cancer | 121/4020 | 205/8465 | 5.22e-04 | 2.18e-03 | 1.21e-03 | 121 |
hsa0493311 | Liver | HCC | AGE-RAGE signaling pathway in diabetic complications | 62/4020 | 100/8465 | 2.35e-03 | 7.95e-03 | 4.42e-03 | 62 |
hsa0492611 | Liver | HCC | Relaxin signaling pathway | 75/4020 | 129/8465 | 9.33e-03 | 2.46e-02 | 1.37e-02 | 75 |
hsa0461111 | Liver | HCC | Platelet activation | 71/4020 | 124/8465 | 1.77e-02 | 4.15e-02 | 2.31e-02 | 71 |
hsa045108 | Lung | IAC | Focal adhesion | 59/1053 | 203/8465 | 1.31e-10 | 1.06e-08 | 7.06e-09 | 59 |
hsa0520512 | Lung | IAC | Proteoglycans in cancer | 53/1053 | 205/8465 | 9.47e-08 | 6.16e-06 | 4.09e-06 | 53 |
hsa051656 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa049264 | Lung | IAC | Relaxin signaling pathway | 29/1053 | 129/8465 | 9.70e-04 | 7.32e-03 | 4.86e-03 | 29 |
hsa049335 | Lung | IAC | AGE-RAGE signaling pathway in diabetic complications | 24/1053 | 100/8465 | 9.91e-04 | 7.32e-03 | 4.86e-03 | 24 |
hsa046114 | Lung | IAC | Platelet activation | 27/1053 | 124/8465 | 2.34e-03 | 1.23e-02 | 8.14e-03 | 27 |
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 |
COL1A2 | SNV | Missense_Mutation | rs140434765 | c.1562N>T | p.Ala521Val | p.A521V | P08123 | protein_coding | tolerated(0.26) | benign(0.433) | TCGA-A2-A04X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL1A2 | SNV | Missense_Mutation | novel | c.1811N>A | p.Gly604Asp | p.G604D | P08123 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A081-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL1A2 | SNV | Missense_Mutation | rs72658193 | c.2503N>A | p.Gly835Ser | p.G835S | P08123 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A099-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
COL1A2 | SNV | Missense_Mutation | | c.1988N>C | p.Arg663Thr | p.R663T | P08123 | protein_coding | deleterious(0.01) | benign(0.138) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL1A2 | SNV | Missense_Mutation | rs749509413 | c.1213C>T | p.Arg405Cys | p.R405C | P08123 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL1A2 | SNV | Missense_Mutation | | c.1565N>T | p.Pro522Leu | p.P522L | P08123 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
COL1A2 | SNV | Missense_Mutation | rs543815305 | c.1419N>G | p.Ile473Met | p.I473M | P08123 | protein_coding | deleterious(0.03) | possibly_damaging(0.454) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
COL1A2 | SNV | Missense_Mutation | | c.2587N>T | p.Pro863Ser | p.P863S | P08123 | protein_coding | tolerated(0.05) | benign(0.013) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
COL1A2 | SNV | Missense_Mutation | novel | c.1126G>T | p.Gly376Cys | p.G376C | P08123 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A1HI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
COL1A2 | SNV | Missense_Mutation | | c.1186N>A | p.Pro396Thr | p.P396T | P08123 | protein_coding | tolerated(0.19) | benign(0.015) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |