Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![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/Endometrium/SMARCB1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/SMARCB1_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/SMARCB1_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/SMARCB1_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/SMARCB1_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/SMARCB1_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:001603216 | Endometrium | AEH | viral process | 110/2100 | 415/18723 | 1.99e-18 | 1.09e-15 | 110 |
GO:001905816 | Endometrium | AEH | viral life cycle | 86/2100 | 317/18723 | 2.53e-15 | 7.58e-13 | 86 |
GO:001907916 | Endometrium | AEH | viral genome replication | 43/2100 | 131/18723 | 3.22e-11 | 4.60e-09 | 43 |
GO:004440316 | Endometrium | AEH | biological process involved in symbiotic interaction | 70/2100 | 290/18723 | 3.26e-10 | 3.55e-08 | 70 |
GO:000974316 | Endometrium | AEH | response to carbohydrate | 62/2100 | 253/18723 | 1.76e-09 | 1.51e-07 | 62 |
GO:003428416 | Endometrium | AEH | response to monosaccharide | 57/2100 | 225/18723 | 2.13e-09 | 1.77e-07 | 57 |
GO:000974615 | Endometrium | AEH | response to hexose | 54/2100 | 219/18723 | 1.54e-08 | 9.72e-07 | 54 |
GO:000974910 | Endometrium | AEH | response to glucose | 52/2100 | 212/18723 | 3.40e-08 | 1.91e-06 | 52 |
GO:00016789 | Endometrium | AEH | cellular glucose homeostasis | 44/2100 | 172/18723 | 1.04e-07 | 5.07e-06 | 44 |
GO:007132210 | Endometrium | AEH | cellular response to carbohydrate stimulus | 41/2100 | 163/18723 | 4.55e-07 | 1.87e-05 | 41 |
GO:00017019 | Endometrium | AEH | in utero embryonic development | 73/2100 | 367/18723 | 7.18e-07 | 2.63e-05 | 73 |
GO:00713339 | Endometrium | AEH | cellular response to glucose stimulus | 38/2100 | 151/18723 | 1.17e-06 | 3.82e-05 | 38 |
GO:00713319 | Endometrium | AEH | cellular response to hexose stimulus | 38/2100 | 153/18723 | 1.65e-06 | 5.13e-05 | 38 |
GO:004259310 | Endometrium | AEH | glucose homeostasis | 55/2100 | 258/18723 | 1.87e-06 | 5.74e-05 | 55 |
GO:00713269 | Endometrium | AEH | cellular response to monosaccharide stimulus | 38/2100 | 154/18723 | 1.96e-06 | 5.93e-05 | 38 |
GO:003350010 | Endometrium | AEH | carbohydrate homeostasis | 55/2100 | 259/18723 | 2.12e-06 | 6.31e-05 | 55 |
GO:002241115 | Endometrium | AEH | cellular component disassembly | 80/2100 | 443/18723 | 1.07e-05 | 2.45e-04 | 80 |
GO:00329848 | Endometrium | AEH | protein-containing complex disassembly | 45/2100 | 224/18723 | 7.16e-05 | 1.10e-03 | 45 |
GO:00396942 | Endometrium | AEH | viral RNA genome replication | 12/2100 | 35/18723 | 2.69e-04 | 3.12e-03 | 12 |
GO:00518174 | Endometrium | AEH | modulation of process of other organism involved in symbiotic interaction | 19/2100 | 81/18723 | 1.32e-03 | 1.12e-02 | 19 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
SMARCB1 | BN | Cervix | Healthy | AC010422.8,SDHAF1,TNFRSF13B, etc. | 6.90e-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/Cervix/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMARCB1 | BN | Cervix | N_HPV | AC010422.8,SDHAF1,TNFRSF13B, etc. | 1.21e-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_N_HPV/regulons_activity_in_dotplot.png) |
SMARCB1 | CT | Colorectum | CRC | FAM227A,KSR2,GOLT1B, etc. | 6.32e-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_CRC/regulons_activity_in_dotplot.png) |
SMARCB1 | AT1 | Lung | IAC | MTCH1,HMGA1,UQCR10, etc. | 8.51e-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/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
SMARCB1 | TH1 | Lung | ADJ | CD79A,PTGDS,ITGB7, etc. | 1.26e-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_ADJ/regulons_activity_in_dotplot.png) |
SMARCB1 | PLA | Lung | AIS | PRPSAP2,MUC1,IGHM, etc. | 7.87e-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/Lung/Str/TF_AIS/regulons_activity_in_dotplot.png) |
SMARCB1 | PLA | Lung | IAC | POU2AF1,VPREB3,TNFRSF13B, etc. | 1.16e-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) |
SMARCB1 | MAIT | Lung | IAC | POU2AF1,VPREB3,TNFRSF13B, etc. | 4.44e-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/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
SMARCB1 | GDT | Lung | IAC | POU2AF1,VPREB3,TNFRSF13B, etc. | 6.59e-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/Lung/Str/TF_IAC/regulons_activity_in_dotplot.png) |
SMARCB1 | GC | Lung | IAC | POU2AF1,VPREB3,TNFRSF13B, etc. | 3.48e-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/Lung/Str/TF_IAC/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 |
SMARCB1 | SNV | Missense_Mutation | | c.811N>A | p.Val271Ile | p.V271I | | protein_coding | tolerated(0.41) | possibly_damaging(0.767) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SMARCB1 | insertion | Nonsense_Mutation | novel | c.481_482insAATAGA | p.Cys161delinsTer | p.C161delins* | | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMARCB1 | insertion | Frame_Shift_Ins | novel | c.277_278insAGCACTTCATCCTGGCAGCCAGTGTGCTAGAGCCCAT | p.Gly93GlufsTer16 | p.G93Efs*16 | | protein_coding | | | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
SMARCB1 | SNV | Missense_Mutation | rs767791254 | c.283N>A | p.Asp95Asn | p.D95N | | protein_coding | deleterious(0.01) | probably_damaging(0.913) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMARCB1 | SNV | Missense_Mutation | novel | c.953N>T | p.Thr318Ile | p.T318I | | protein_coding | deleterious(0) | possibly_damaging(0.578) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMARCB1 | SNV | Missense_Mutation | | c.448N>A | p.Asp150Asn | p.D150N | | protein_coding | tolerated(0.22) | benign(0.037) | TCGA-IR-A3LL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMARCB1 | SNV | Missense_Mutation | | c.767C>G | p.Ser256Cys | p.S256C | | protein_coding | tolerated(0.09) | possibly_damaging(0.673) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCB1 | insertion | Nonsense_Mutation | novel | c.100_101insTTGAACAATGAGAAC | p.Asn34delinsIleGluGlnTerGluHis | p.N34delinsIEQ*EH | | protein_coding | | | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
SMARCB1 | SNV | Missense_Mutation | rs387906812 | c.1157G>A | p.Arg386His | p.R386H | | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-A6-2678-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
SMARCB1 | SNV | Missense_Mutation | novel | c.14N>T | p.Ala5Val | p.A5V | | protein_coding | tolerated_low_confidence(0.08) | benign(0.324) | TCGA-A6-3808-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |