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/REL_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/REL_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/REL_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/REL_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/REL_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/REL_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/REL_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/REL_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:190121410 | Cervix | CC | regulation of neuron death | 61/2311 | 319/18723 | 3.11e-04 | 3.31e-03 | 61 |
GO:0045580 | Cervix | CC | regulation of T cell differentiation | 33/2311 | 146/18723 | 3.75e-04 | 3.87e-03 | 33 |
GO:00302173 | Cervix | CC | T cell differentiation | 51/2311 | 257/18723 | 3.81e-04 | 3.89e-03 | 51 |
GO:19031314 | Cervix | CC | mononuclear cell differentiation | 76/2311 | 426/18723 | 5.66e-04 | 5.42e-03 | 76 |
GO:00456192 | Cervix | CC | regulation of lymphocyte differentiation | 37/2311 | 174/18723 | 6.06e-04 | 5.69e-03 | 37 |
GO:00086379 | Cervix | CC | apoptotic mitochondrial changes | 25/2311 | 107/18723 | 1.11e-03 | 9.14e-03 | 25 |
GO:00018368 | Cervix | CC | release of cytochrome c from mitochondria | 16/2311 | 59/18723 | 1.65e-03 | 1.27e-02 | 16 |
GO:00431237 | Cervix | CC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 37/2311 | 186/18723 | 2.15e-03 | 1.55e-02 | 37 |
GO:00324791 | Cervix | CC | regulation of type I interferon production | 21/2311 | 95/18723 | 5.32e-03 | 3.10e-02 | 21 |
GO:00326061 | Cervix | CC | type I interferon production | 21/2311 | 95/18723 | 5.32e-03 | 3.10e-02 | 21 |
GO:00300981 | Cervix | CC | lymphocyte differentiation | 63/2311 | 374/18723 | 6.21e-03 | 3.52e-02 | 63 |
GO:007099715 | Cervix | HSIL_HPV | neuron death | 30/737 | 361/18723 | 1.02e-04 | 2.16e-03 | 30 |
GO:190121415 | Cervix | HSIL_HPV | regulation of neuron death | 24/737 | 319/18723 | 1.92e-03 | 2.02e-02 | 24 |
GO:0001818 | Cervix | HSIL_HPV | negative regulation of cytokine production | 25/737 | 357/18723 | 4.05e-03 | 3.47e-02 | 25 |
GO:004312215 | Cervix | HSIL_HPV | regulation of I-kappaB kinase/NF-kappaB signaling | 19/737 | 249/18723 | 4.66e-03 | 3.88e-02 | 19 |
GO:200123325 | Cervix | N_HPV | regulation of apoptotic signaling pathway | 36/534 | 356/18723 | 4.95e-11 | 5.63e-08 | 36 |
GO:000609124 | Cervix | N_HPV | generation of precursor metabolites and energy | 40/534 | 490/18723 | 2.59e-09 | 7.88e-07 | 40 |
GO:004211022 | Cervix | N_HPV | T cell activation | 39/534 | 487/18723 | 7.04e-09 | 1.58e-06 | 39 |
GO:005254824 | Cervix | N_HPV | regulation of endopeptidase activity | 36/534 | 432/18723 | 9.74e-09 | 1.72e-06 | 36 |
GO:004533324 | Cervix | N_HPV | cellular respiration | 25/534 | 230/18723 | 1.10e-08 | 1.85e-06 | 25 |
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 |
REL | SNV | Missense_Mutation | rs758702004 | c.392N>G | p.Asn131Ser | p.N131S | Q04864 | protein_coding | tolerated(0.14) | benign(0.012) | TCGA-A7-A3IZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
REL | SNV | Missense_Mutation | novel | c.279T>G | p.Phe93Leu | p.F93L | Q04864 | protein_coding | tolerated(0.46) | probably_damaging(0.92) | TCGA-A7-A4SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
REL | SNV | Missense_Mutation | | c.1066N>A | p.Glu356Lys | p.E356K | Q04864 | protein_coding | deleterious(0) | possibly_damaging(0.629) | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REL | insertion | Frame_Shift_Ins | novel | c.728_729insCACCAGATTAATC | p.Phe244ThrfsTer29 | p.F244Tfs*29 | Q04864 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
REL | insertion | In_Frame_Ins | novel | c.1828_1829insGCCTACAGGGGTTTCAAGTCAAGCAGAATCCTACTATCCCTC | p.Asp610delinsGlyLeuGlnGlyPheGlnValLysGlnAsnProThrIleProHis | p.D610delinsGLQGFQVKQNPTIPH | Q04864 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REL | SNV | Missense_Mutation | novel | c.65G>A | p.Arg22His | p.R22H | Q04864 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
REL | SNV | Missense_Mutation | | c.469N>G | p.Pro157Ala | p.P157A | Q04864 | protein_coding | tolerated(0.11) | benign(0.127) | TCGA-C5-A1M8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
REL | SNV | Missense_Mutation | | c.607N>A | p.Glu203Lys | p.E203K | Q04864 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
REL | SNV | Missense_Mutation | | c.946N>A | p.Asp316Asn | p.D316N | Q04864 | protein_coding | tolerated_low_confidence(0.61) | benign(0) | TCGA-JW-A852-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
REL | SNV | Missense_Mutation | | c.1722N>A | p.Met574Ile | p.M574I | Q04864 | protein_coding | tolerated_low_confidence(0.12) | benign(0) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |