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:190289317 | Oral cavity | OSCC | regulation of pri-miRNA transcription by RNA polymerase II | 34/7305 | 54/18723 | 3.12e-04 | 1.94e-03 | 34 |
GO:00324793 | Oral cavity | OSCC | regulation of type I interferon production | 54/7305 | 95/18723 | 3.17e-04 | 1.97e-03 | 54 |
GO:00326063 | Oral cavity | OSCC | type I interferon production | 54/7305 | 95/18723 | 3.17e-04 | 1.97e-03 | 54 |
GO:190303715 | Oral cavity | OSCC | regulation of leukocyte cell-cell adhesion | 162/7305 | 336/18723 | 3.39e-04 | 2.08e-03 | 162 |
GO:00434577 | Oral cavity | OSCC | regulation of cellular respiration | 31/7305 | 49/18723 | 5.04e-04 | 2.95e-03 | 31 |
GO:00169253 | Oral cavity | OSCC | protein sumoylation | 33/7305 | 53/18723 | 5.11e-04 | 2.98e-03 | 33 |
GO:19021059 | Oral cavity | OSCC | regulation of leukocyte differentiation | 136/7305 | 279/18723 | 5.53e-04 | 3.21e-03 | 136 |
GO:00302175 | Oral cavity | OSCC | T cell differentiation | 126/7305 | 257/18723 | 6.51e-04 | 3.66e-03 | 126 |
GO:00329229 | Oral cavity | OSCC | circadian regulation of gene expression | 40/7305 | 68/18723 | 7.28e-04 | 3.98e-03 | 40 |
GO:00429873 | Oral cavity | OSCC | amyloid precursor protein catabolic process | 40/7305 | 68/18723 | 7.28e-04 | 3.98e-03 | 40 |
GO:0014015 | Oral cavity | OSCC | positive regulation of gliogenesis | 39/7305 | 66/18723 | 7.46e-04 | 4.07e-03 | 39 |
GO:19012159 | Oral cavity | OSCC | negative regulation of neuron death | 104/7305 | 208/18723 | 7.90e-04 | 4.27e-03 | 104 |
GO:00060817 | Oral cavity | OSCC | cellular aldehyde metabolic process | 36/7305 | 60/18723 | 7.94e-04 | 4.27e-03 | 36 |
GO:00519605 | Oral cavity | OSCC | regulation of nervous system development | 205/7305 | 443/18723 | 9.80e-04 | 5.11e-03 | 205 |
GO:19012246 | Oral cavity | OSCC | positive regulation of NIK/NF-kappaB signaling | 40/7305 | 69/18723 | 1.08e-03 | 5.56e-03 | 40 |
GO:000632510 | Oral cavity | OSCC | chromatin organization | 190/7305 | 409/18723 | 1.17e-03 | 5.97e-03 | 190 |
GO:00429823 | Oral cavity | OSCC | amyloid precursor protein metabolic process | 52/7305 | 95/18723 | 1.33e-03 | 6.62e-03 | 52 |
GO:00714706 | Oral cavity | OSCC | cellular response to osmotic stress | 26/7305 | 41/18723 | 1.34e-03 | 6.62e-03 | 26 |
GO:002240917 | Oral cavity | OSCC | positive regulation of cell-cell adhesion | 136/7305 | 284/18723 | 1.35e-03 | 6.62e-03 | 136 |
GO:19015224 | Oral cavity | OSCC | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 16/7305 | 22/18723 | 1.40e-03 | 6.79e-03 | 16 |
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 |