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:004670017 | Esophagus | HGIN | heterocycle catabolic process | 103/2587 | 445/18723 | 5.44e-08 | 2.99e-06 | 103 |
GO:004427018 | Esophagus | HGIN | cellular nitrogen compound catabolic process | 103/2587 | 451/18723 | 1.10e-07 | 5.56e-06 | 103 |
GO:001943917 | Esophagus | HGIN | aromatic compound catabolic process | 105/2587 | 467/18723 | 1.89e-07 | 9.31e-06 | 105 |
GO:190331310 | Esophagus | HGIN | positive regulation of mRNA metabolic process | 38/2587 | 118/18723 | 2.46e-07 | 1.16e-05 | 38 |
GO:190136117 | Esophagus | HGIN | organic cyclic compound catabolic process | 106/2587 | 495/18723 | 1.94e-06 | 7.13e-05 | 106 |
GO:00346606 | Esophagus | HGIN | ncRNA metabolic process | 104/2587 | 485/18723 | 2.26e-06 | 8.23e-05 | 104 |
GO:00342496 | Esophagus | HGIN | negative regulation of cellular amide metabolic process | 66/2587 | 273/18723 | 2.74e-06 | 9.60e-05 | 66 |
GO:00171486 | Esophagus | HGIN | negative regulation of translation | 59/2587 | 245/18723 | 1.03e-05 | 2.96e-04 | 59 |
GO:006101318 | Esophagus | HGIN | regulation of mRNA catabolic process | 43/2587 | 166/18723 | 2.48e-05 | 6.53e-04 | 43 |
GO:000028810 | Esophagus | HGIN | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 19/2587 | 56/18723 | 1.10e-04 | 2.33e-03 | 19 |
GO:006101410 | Esophagus | HGIN | positive regulation of mRNA catabolic process | 24/2587 | 87/18723 | 5.46e-04 | 7.73e-03 | 24 |
GO:004348818 | Esophagus | HGIN | regulation of mRNA stability | 37/2587 | 158/18723 | 7.53e-04 | 9.97e-03 | 37 |
GO:004348718 | Esophagus | HGIN | regulation of RNA stability | 39/2587 | 170/18723 | 8.42e-04 | 1.09e-02 | 39 |
GO:006115710 | Esophagus | HGIN | mRNA destabilization | 22/2587 | 84/18723 | 1.91e-03 | 2.03e-02 | 22 |
GO:005077910 | Esophagus | HGIN | RNA destabilization | 22/2587 | 88/18723 | 3.57e-03 | 3.27e-02 | 22 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
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 |