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/SMC3_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/SMC3_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/SMC3_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/SMC3_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/SMC3_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/SMC3_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:00987279 | Skin | AK | maintenance of cell number | 37/1910 | 134/18723 | 1.10e-08 | 7.11e-07 | 37 |
GO:00070594 | Skin | AK | chromosome segregation | 60/1910 | 346/18723 | 2.88e-05 | 4.98e-04 | 60 |
GO:00070519 | Skin | AK | spindle organization | 37/1910 | 184/18723 | 4.21e-05 | 6.70e-04 | 37 |
GO:00008195 | Skin | AK | sister chromatid segregation | 37/1910 | 202/18723 | 3.10e-04 | 3.19e-03 | 37 |
GO:00903078 | Skin | AK | mitotic spindle assembly | 16/1910 | 65/18723 | 6.54e-04 | 5.64e-03 | 16 |
GO:00512257 | Skin | AK | spindle assembly | 24/1910 | 117/18723 | 6.54e-04 | 5.64e-03 | 24 |
GO:19028508 | Skin | AK | microtubule cytoskeleton organization involved in mitosis | 28/1910 | 147/18723 | 8.48e-04 | 7.02e-03 | 28 |
GO:00070528 | Skin | AK | mitotic spindle organization | 24/1910 | 120/18723 | 9.53e-04 | 7.64e-03 | 24 |
GO:00070628 | Skin | AK | sister chromatid cohesion | 14/1910 | 62/18723 | 3.32e-03 | 2.03e-02 | 14 |
GO:01400147 | Skin | AK | mitotic nuclear division | 44/1910 | 287/18723 | 3.98e-03 | 2.34e-02 | 44 |
GO:00062605 | Skin | AK | DNA replication | 40/1910 | 260/18723 | 5.49e-03 | 3.03e-02 | 40 |
GO:00000704 | Skin | AK | mitotic sister chromatid segregation | 28/1910 | 168/18723 | 6.30e-03 | 3.38e-02 | 28 |
GO:00988134 | Skin | AK | nuclear chromosome segregation | 42/1910 | 281/18723 | 7.50e-03 | 3.82e-02 | 42 |
GO:001049828 | Skin | cSCC | proteasomal protein catabolic process | 243/4864 | 490/18723 | 7.85e-30 | 4.10e-27 | 243 |
GO:001603229 | Skin | cSCC | viral process | 211/4864 | 415/18723 | 7.04e-28 | 2.76e-25 | 211 |
GO:004217629 | Skin | cSCC | regulation of protein catabolic process | 198/4864 | 391/18723 | 6.03e-26 | 1.89e-23 | 198 |
GO:004316128 | Skin | cSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 205/4864 | 412/18723 | 1.46e-25 | 4.16e-23 | 205 |
GO:190336229 | Skin | cSCC | regulation of cellular protein catabolic process | 139/4864 | 255/18723 | 2.06e-22 | 4.17e-20 | 139 |
GO:014001415 | Skin | cSCC | mitotic nuclear division | 149/4864 | 287/18723 | 3.59e-21 | 6.43e-19 | 149 |
GO:190305029 | Skin | cSCC | regulation of proteolysis involved in cellular protein catabolic process | 121/4864 | 221/18723 | 6.75e-20 | 1.01e-17 | 121 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
SMC3 | TRANS | Cervix | Healthy | LLPH,ZCCHC10,PRPSAP1, etc. | 1.80e-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/Cervix/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMC3 | TAC | Colorectum | Healthy | HELLS,AC069277.1,CENPP, etc. | 6.95e-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/Colorectum/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMC3 | GC | Colorectum | AD | MCM3AP,SLC37A3,NDUFAF2, etc. | 3.40e-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/Colorectum/Str/TF_AD/regulons_activity_in_dotplot.png) |
SMC3 | CD8TCM | Colorectum | ADJ | MCM3AP,SLC37A3,NDUFAF2, etc. | 8.22e-03 | ![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/Colorectum/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
SMC3 | MON | Colorectum | ADJ | MCM3AP,SLC37A3,NDUFAF2, etc. | 2.27e-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/Colorectum/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
SMC3 | BN | Colorectum | Healthy | MCM3AP,SLC37A3,NDUFAF2, etc. | 1.44e-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/Colorectum/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMC3 | PERI | Colorectum | Healthy | C19orf25,CTSO,RWDD4, etc. | 5.13e-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/Colorectum/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMC3 | CD8TEX | Endometrium | ADJ | AHI1,ATAD2,MDM1, etc. | 5.28e-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_ADJ/regulons_activity_in_dotplot.png) |
SMC3 | PLA | Endometrium | ADJ | AHI1,ATAD2,MDM1, etc. | 5.52e-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_ADJ/regulons_activity_in_dotplot.png) |
SMC3 | NEUT | Endometrium | AEH | AHI1,ATAD2,MDM1, etc. | 2.06e-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/Endometrium/Str/TF_AEH/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 |
SMC3 | SNV | Missense_Mutation | | c.3191N>A | p.Gly1064Asp | p.G1064D | Q9UQE7 | protein_coding | tolerated(0.84) | benign(0.003) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
SMC3 | SNV | Missense_Mutation | novel | c.3624C>A | p.Asp1208Glu | p.D1208E | Q9UQE7 | protein_coding | deleterious(0.01) | possibly_damaging(0.65) | TCGA-AR-A2LR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SMC3 | SNV | Missense_Mutation | | c.481G>A | p.Glu161Lys | p.E161K | Q9UQE7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
SMC3 | SNV | Missense_Mutation | novel | c.3612G>C | p.Glu1204Asp | p.E1204D | Q9UQE7 | protein_coding | tolerated(0.15) | benign(0.159) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
SMC3 | SNV | Missense_Mutation | | c.2701N>G | p.Met901Val | p.M901V | Q9UQE7 | protein_coding | tolerated(0.15) | benign(0.006) | TCGA-D8-A1XR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
SMC3 | SNV | Missense_Mutation | | c.3443N>T | p.Ala1148Val | p.A1148V | Q9UQE7 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC3 | SNV | Missense_Mutation | novel | c.2908N>A | p.Glu970Lys | p.E970K | Q9UQE7 | protein_coding | deleterious(0.05) | possibly_damaging(0.474) | TCGA-EW-A6SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | aromatase | SD |
SMC3 | SNV | Missense_Mutation | rs754501454 | c.2708N>T | p.Arg903Leu | p.R903L | Q9UQE7 | protein_coding | tolerated(0.2) | benign(0.019) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
SMC3 | insertion | Nonsense_Mutation | novel | c.633_634insTTTTTAAGCTTTTATAATTTGTTATAATTA | p.Ala211_Gln212insPheLeuSerPheTyrAsnLeuLeuTerLeu | p.A211_Q212insFLSFYNLL*L | Q9UQE7 | protein_coding | | | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
SMC3 | insertion | Nonsense_Mutation | novel | c.1076_1077insTGCACAGGCTGGAGTGCAGTGGTGAGATCACAGCTC | p.Glu359delinsAspAlaGlnAlaGlyValGlnTrpTerAspHisSerSer | p.E359delinsDAQAGVQW*DHSS | Q9UQE7 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |