Tissue | Expression Dynamics | Abbreviation |
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/DIS3_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/DIS3_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/DIS3_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/DIS3_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/DIS3_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:0009896 | Colorectum | AD | positive regulation of catabolic process | 180/3918 | 492/18723 | 4.33e-16 | 1.94e-13 | 180 |
GO:1903311 | Colorectum | AD | regulation of mRNA metabolic process | 117/3918 | 288/18723 | 1.69e-14 | 4.23e-12 | 117 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:0006401 | Colorectum | AD | RNA catabolic process | 102/3918 | 278/18723 | 8.64e-10 | 6.76e-08 | 102 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:0006402 | Colorectum | AD | mRNA catabolic process | 87/3918 | 232/18723 | 4.40e-09 | 2.84e-07 | 87 |
GO:0034655 | Colorectum | AD | nucleobase-containing compound catabolic process | 133/3918 | 407/18723 | 1.56e-08 | 9.12e-07 | 133 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0061013 | Colorectum | AD | regulation of mRNA catabolic process | 64/3918 | 166/18723 | 1.44e-07 | 6.59e-06 | 64 |
GO:0043487 | Colorectum | AD | regulation of RNA stability | 63/3918 | 170/18723 | 9.17e-07 | 3.12e-05 | 63 |
GO:0006417 | Colorectum | AD | regulation of translation | 141/3918 | 468/18723 | 1.32e-06 | 4.22e-05 | 141 |
GO:0043488 | Colorectum | AD | regulation of mRNA stability | 59/3918 | 158/18723 | 1.50e-06 | 4.66e-05 | 59 |
GO:1903313 | Colorectum | AD | positive regulation of mRNA metabolic process | 44/3918 | 118/18723 | 3.20e-05 | 5.87e-04 | 44 |
GO:0000956 | Colorectum | AD | nuclear-transcribed mRNA catabolic process | 40/3918 | 112/18723 | 2.11e-04 | 2.79e-03 | 40 |
GO:0061014 | Colorectum | AD | positive regulation of mRNA catabolic process | 32/3918 | 87/18723 | 4.81e-04 | 5.27e-03 | 32 |
GO:0061157 | Colorectum | AD | mRNA destabilization | 30/3918 | 84/18723 | 1.24e-03 | 1.09e-02 | 30 |
GO:0050779 | Colorectum | AD | RNA destabilization | 30/3918 | 88/18723 | 2.83e-03 | 2.12e-02 | 30 |
GO:0140014 | Colorectum | AD | mitotic nuclear division | 78/3918 | 287/18723 | 6.48e-03 | 4.05e-02 | 78 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
DIS3 | TFH | Endometrium | EEC | TFIP11,SNHG9,NBEAL1, etc. | 5.05e-02 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Endometrium/Str/TF_EEC/regulons_activity_in_dotplot.png) |
DIS3 | TH17 | Endometrium | EEC | TFIP11,SNHG9,NBEAL1, etc. | 3.02e-02 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Endometrium/Str/TF_EEC/regulons_activity_in_dotplot.png) |
DIS3 | TREG | Lung | IAC | H1F0,VDR,FUT11, etc. | 2.01e-01 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
DIS3 | MAIT | Lung | IAC | H1F0,VDR,FUT11, etc. | 4.77e-05 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
DIS3 | BMEM | Lung | IAC | H1F0,VDR,FUT11, etc. | 6.06e-05 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
DIS3 | MDSC | Lung | IAC | H1F0,VDR,FUT11, etc. | 9.15e-05 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
DIS3 | INFIB | Thyroid | ADJ | ZC3H11A,CHMP4C,MTCO2P12, etc. | 4.20e-01 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Thyroid/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
DIS3 | ICAF | Thyroid | goiters | ZC3H11A,CHMP4C,MTCO2P12, etc. | 2.22e-16 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Thyroid/Str/TF_goiters/regulons_activity_in_dotplot.png) |
DIS3 | MSC.MVA | Thyroid | Healthy | ZC3H11A,CHMP4C,MTCO2P12, etc. | 3.56e-02 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Thyroid/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
DIS3 | ICAF | Thyroid | Healthy | ZC3H11A,CHMP4C,MTCO2P12, etc. | 0.00e+00 | ![The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression.](images/gene_regulatory/Thyroid/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
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 |
DIS3 | SNV | Missense_Mutation | | c.2066N>A | p.Arg689Gln | p.R689Q | Q9Y2L1 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIS3 | SNV | Missense_Mutation | | c.1001T>C | p.Val334Ala | p.V334A | Q9Y2L1 | protein_coding | tolerated(0.82) | benign(0) | TCGA-BH-A0DX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
DIS3 | SNV | Missense_Mutation | rs760670933 | c.616G>A | p.Glu206Lys | p.E206K | Q9Y2L1 | protein_coding | tolerated(0.33) | benign(0.149) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
DIS3 | SNV | Missense_Mutation | | c.1662N>G | p.Asp554Glu | p.D554E | Q9Y2L1 | protein_coding | tolerated(0.21) | benign(0.018) | TCGA-BH-A1FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
DIS3 | insertion | Frame_Shift_Ins | novel | c.2032dupA | p.Ile678AsnfsTer3 | p.I678Nfs*3 | Q9Y2L1 | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIS3 | deletion | Frame_Shift_Del | novel | c.527delN | p.Asn176MetfsTer10 | p.N176Mfs*10 | Q9Y2L1 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DIS3 | SNV | Missense_Mutation | novel | c.2257T>C | p.Tyr753His | p.Y753H | Q9Y2L1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DIS3 | SNV | Missense_Mutation | rs757306363 | c.1831C>T | p.Arg611Cys | p.R611C | Q9Y2L1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DIS3 | SNV | Missense_Mutation | novel | c.2164N>A | p.Ala722Thr | p.A722T | Q9Y2L1 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DIS3 | SNV | Missense_Mutation | | c.2348C>T | p.Ala783Val | p.A783V | Q9Y2L1 | protein_coding | deleterious(0.01) | benign(0.247) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |