Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/BPTF_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/BPTF_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/BPTF_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/BPTF_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/BPTF_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/BPTF_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/BPTF_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/BPTF_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/BPTF_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/BPTF_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/BPTF_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:00018927 | Breast | Precancer | embryonic placenta development | 14/1080 | 82/18723 | 2.30e-04 | 3.48e-03 | 14 |
GO:00486087 | Breast | Precancer | reproductive structure development | 43/1080 | 424/18723 | 2.36e-04 | 3.56e-03 | 43 |
GO:00614587 | Breast | Precancer | reproductive system development | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
GO:00018907 | Breast | Precancer | placenta development | 19/1080 | 144/18723 | 6.26e-04 | 7.78e-03 | 19 |
GO:00017017 | Breast | Precancer | in utero embryonic development | 35/1080 | 367/18723 | 2.47e-03 | 2.27e-02 | 35 |
GO:19900908 | Breast | Precancer | cellular response to nerve growth factor stimulus | 9/1080 | 53/18723 | 3.05e-03 | 2.62e-02 | 9 |
GO:19900896 | Breast | Precancer | response to nerve growth factor | 9/1080 | 56/18723 | 4.47e-03 | 3.47e-02 | 9 |
GO:004860812 | Breast | IDC | reproductive structure development | 60/1434 | 424/18723 | 2.71e-06 | 1.03e-04 | 60 |
GO:006145813 | Breast | IDC | reproductive system development | 60/1434 | 427/18723 | 3.41e-06 | 1.24e-04 | 60 |
GO:000189013 | Breast | IDC | placenta development | 25/1434 | 144/18723 | 9.19e-05 | 1.78e-03 | 25 |
GO:000189213 | Breast | IDC | embryonic placenta development | 16/1434 | 82/18723 | 4.28e-04 | 5.84e-03 | 16 |
GO:199008912 | Breast | IDC | response to nerve growth factor | 11/1434 | 56/18723 | 3.08e-03 | 2.61e-02 | 11 |
GO:000170113 | Breast | IDC | in utero embryonic development | 42/1434 | 367/18723 | 5.85e-03 | 4.24e-02 | 42 |
GO:004860821 | Breast | DCIS | reproductive structure development | 57/1390 | 424/18723 | 9.06e-06 | 2.45e-04 | 57 |
GO:006145822 | Breast | DCIS | reproductive system development | 57/1390 | 427/18723 | 1.12e-05 | 2.92e-04 | 57 |
GO:000189022 | Breast | DCIS | placenta development | 25/1390 | 144/18723 | 5.57e-05 | 1.13e-03 | 25 |
GO:000189221 | Breast | DCIS | embryonic placenta development | 16/1390 | 82/18723 | 3.02e-04 | 4.38e-03 | 16 |
GO:199008922 | Breast | DCIS | response to nerve growth factor | 11/1390 | 56/18723 | 2.42e-03 | 2.18e-02 | 11 |
GO:000170122 | Breast | DCIS | in utero embryonic development | 41/1390 | 367/18723 | 5.74e-03 | 4.13e-02 | 41 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
BPTF | CD8TEFF | Breast | IDC | PLCG2,DDX17,SYNE2, etc. | 7.55e-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/Breast/Str/TF_IDC/regulons_activity_in_dotplot.png) |
BPTF | ASC | Colorectum | SER | ARL17B,HNF1A-AS1,MT-ATP8, etc. | 1.20e-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/Colorectum/Str/TF_SER/regulons_activity_in_dotplot.png) |
BPTF | CD8TEXINT | Stomach | CAG | GRAMD2B,MCTP2,PACS1, etc. | 1.82e-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/Stomach/Str/TF_CAG/regulons_activity_in_dotplot.png) |
BPTF | CD4TN | Stomach | CAG | GRAMD2B,MCTP2,PACS1, etc. | 1.17e-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/Stomach/Str/TF_CAG/regulons_activity_in_dotplot.png) |
BPTF | CD4TN | Stomach | CSG | GRAMD2B,MCTP2,PACS1, etc. | 8.54e-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/Stomach/Str/TF_CSG/regulons_activity_in_dotplot.png) |
BPTF | MAIT | Stomach | SIM | GRAMD2B,MCTP2,PACS1, etc. | 4.20e-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/Stomach/Str/TF_SIM/regulons_activity_in_dotplot.png) |
BPTF | LYMEND | Stomach | ADJ | PHF14,PLA2G2A,MT-ND2, etc. | 1.50e-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/Stomach/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
BPTF | MVA | Stomach | CAG | PHF14,PLA2G2A,MT-ND2, etc. | 6.16e-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/Stomach/Str/TF_CAG/regulons_activity_in_dotplot.png) |
BPTF | CAF | Stomach | CSG | PHF14,PLA2G2A,MT-ND2, 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/Stomach/Str/TF_CSG/regulons_activity_in_dotplot.png) |
BPTF | MVA | Stomach | Healthy | PHF14,PLA2G2A,MT-ND2, etc. | 3.92e-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/Stomach/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 |
BPTF | SNV | Missense_Mutation | rs780605303 | c.5437G>A | p.Glu1813Lys | p.E1813K | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.941) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | | c.6046A>G | p.Thr2016Ala | p.T2016A | Q12830 | protein_coding | tolerated(0.16) | benign(0.023) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | | c.8603N>T | p.Ala2868Val | p.A2868V | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-D1-A174-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | | c.5848A>G | p.Met1950Val | p.M1950V | Q12830 | protein_coding | tolerated(1) | benign(0.003) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
BPTF | SNV | Missense_Mutation | | c.2033A>C | p.Lys678Thr | p.K678T | Q12830 | protein_coding | deleterious(0.01) | possibly_damaging(0.466) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | | c.6581N>G | p.Gln2194Arg | p.Q2194R | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
BPTF | SNV | Missense_Mutation | novel | c.8435N>T | p.Arg2812Met | p.R2812M | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-DI-A1NO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
BPTF | SNV | Missense_Mutation | novel | c.1074N>T | p.Glu358Asp | p.E358D | Q12830 | protein_coding | tolerated(0.19) | benign(0.099) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.7942N>A | p.Asp2648Asn | p.D2648N | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.3802N>T | p.Pro1268Ser | p.P1268S | Q12830 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-EO-A22T-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |