Tissue | Expression Dynamics | Abbreviation |
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/GTF2I_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/GTF2I_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/GTF2I_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/GTF2I_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/GTF2I_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/GTF2I_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/GTF2I_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/GTF2I_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/GTF2I_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/GTF2I_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/GTF2I_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/GTF2I_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:19013423 | Cervix | CC | regulation of vasculature development | 60/2311 | 348/18723 | 4.48e-03 | 2.72e-02 | 60 |
GO:00457653 | Cervix | CC | regulation of angiogenesis | 59/2311 | 342/18723 | 4.73e-03 | 2.83e-02 | 59 |
GO:00902578 | Cervix | CC | regulation of muscle system process | 45/2311 | 252/18723 | 6.73e-03 | 3.70e-02 | 45 |
GO:00435024 | Cervix | CC | regulation of muscle adaptation | 21/2311 | 98/18723 | 7.71e-03 | 4.09e-02 | 21 |
GO:004576521 | Cervix | N_HPV | regulation of angiogenesis | 25/534 | 342/18723 | 1.80e-05 | 5.30e-04 | 25 |
GO:190134221 | Cervix | N_HPV | regulation of vasculature development | 25/534 | 348/18723 | 2.41e-05 | 6.66e-04 | 25 |
GO:00725031 | Cervix | N_HPV | cellular divalent inorganic cation homeostasis | 24/534 | 486/18723 | 6.76e-03 | 4.52e-02 | 24 |
GO:0090257 | Colorectum | AD | regulation of muscle system process | 73/3918 | 252/18723 | 1.46e-03 | 1.24e-02 | 73 |
GO:0043502 | Colorectum | AD | regulation of muscle adaptation | 31/3918 | 98/18723 | 8.45e-03 | 4.94e-02 | 31 |
GO:00902572 | Colorectum | MSS | regulation of muscle system process | 66/3467 | 252/18723 | 1.55e-03 | 1.41e-02 | 66 |
GO:00030121 | Colorectum | MSS | muscle system process | 105/3467 | 452/18723 | 6.39e-03 | 4.26e-02 | 105 |
GO:00902574 | Colorectum | FAP | regulation of muscle system process | 58/2622 | 252/18723 | 7.22e-05 | 1.33e-03 | 58 |
GO:00030122 | Colorectum | FAP | muscle system process | 89/2622 | 452/18723 | 4.63e-04 | 5.39e-03 | 89 |
GO:00435022 | Colorectum | FAP | regulation of muscle adaptation | 26/2622 | 98/18723 | 7.75e-04 | 8.17e-03 | 26 |
GO:00435001 | Colorectum | FAP | muscle adaptation | 28/2622 | 121/18723 | 4.50e-03 | 3.06e-02 | 28 |
GO:00902575 | Colorectum | CRC | regulation of muscle system process | 51/2078 | 252/18723 | 1.49e-05 | 4.63e-04 | 51 |
GO:00030123 | Colorectum | CRC | muscle system process | 74/2078 | 452/18723 | 3.92e-04 | 5.80e-03 | 74 |
GO:00435023 | Colorectum | CRC | regulation of muscle adaptation | 21/2078 | 98/18723 | 2.22e-03 | 2.16e-02 | 21 |
GO:00030126 | Endometrium | AEH | muscle system process | 78/2100 | 452/18723 | 6.89e-05 | 1.06e-03 | 78 |
GO:00902579 | Endometrium | AEH | regulation of muscle system process | 44/2100 | 252/18723 | 1.92e-03 | 1.51e-02 | 44 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04022 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
hsa040221 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
hsa040222 | Colorectum | FAP | cGMP-PKG signaling pathway | 42/1404 | 167/8465 | 2.84e-03 | 1.27e-02 | 7.70e-03 | 42 |
hsa040223 | Colorectum | FAP | cGMP-PKG signaling pathway | 42/1404 | 167/8465 | 2.84e-03 | 1.27e-02 | 7.70e-03 | 42 |
hsa030222 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
hsa0302211 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
hsa03022 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
hsa030221 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
hsa040224 | Oral cavity | EOLP | cGMP-PKG signaling pathway | 36/1218 | 167/8465 | 7.34e-03 | 2.12e-02 | 1.25e-02 | 36 |
hsa0402211 | Oral cavity | EOLP | cGMP-PKG signaling pathway | 36/1218 | 167/8465 | 7.34e-03 | 2.12e-02 | 1.25e-02 | 36 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
GTF2I | CD8TEXP | Liver | HCC | HOPX,TMEM127,TRIM28, etc. | 4.34e-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/Liver/Str/TF_HCC/regulons_activity_in_dotplot.png) |
GTF2I | CD8TEFF | Liver | HCC | HOPX,TMEM127,TRIM28, etc. | 9.04e-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/Liver/Str/TF_HCC/regulons_activity_in_dotplot.png) |
GTF2I | CD8TEXINT | Liver | Healthy | HOPX,TMEM127,TRIM28, 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/Liver/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
GTF2I | CD4TN | Liver | Healthy | HOPX,TMEM127,TRIM28, 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/Liver/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
GTF2I | TREG | Liver | Healthy | HOPX,TMEM127,TRIM28, 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/Liver/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
GTF2I | BMEM | Liver | NAFLD | HOPX,TMEM127,TRIM28, 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/Liver/Str/TF_NAFLD/regulons_activity_in_dotplot.png) |
GTF2I | M1MAC | Lung | AIS | BRWD3,ZCCHC17,PHLDA2, etc. | 4.17e-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/Lung/Str/TF_AIS/regulons_activity_in_dotplot.png) |
GTF2I | M2MAC | Lung | AIS | BRWD3,ZCCHC17,PHLDA2, etc. | 6.11e-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) |
GTF2I | NEUT | Lung | AIS | BRWD3,ZCCHC17,PHLDA2, etc. | 1.01e-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) |
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 |
GTF2I | SNV | Missense_Mutation | novel | c.127G>A | p.Glu43Lys | p.E43K | P78347 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
GTF2I | SNV | Missense_Mutation | novel | c.403C>A | p.Pro135Thr | p.P135T | P78347 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GTF2I | SNV | Missense_Mutation | novel | c.2795C>G | p.Ser932Cys | p.S932C | P78347 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1JH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | nolvadex | SD |
GTF2I | SNV | Missense_Mutation | novel | c.161T>C | p.Val54Ala | p.V54A | P78347 | protein_coding | deleterious(0.01) | probably_damaging(0.93) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
GTF2I | SNV | Missense_Mutation | novel | c.1351N>T | p.Pro451Ser | p.P451S | P78347 | protein_coding | tolerated(0.16) | probably_damaging(0.986) | TCGA-E2-A15H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | herceptin | SD |
GTF2I | SNV | Missense_Mutation | rs782059244 | c.1288N>T | p.Arg430Cys | p.R430C | P78347 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E2-A576-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
GTF2I | SNV | Missense_Mutation | novel | c.824N>A | p.Gly275Glu | p.G275E | P78347 | protein_coding | tolerated(0.17) | benign(0.015) | TCGA-C5-A1MP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GTF2I | SNV | Missense_Mutation | novel | c.88C>G | p.Leu30Val | p.L30V | P78347 | protein_coding | tolerated(0.07) | probably_damaging(0.978) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
GTF2I | SNV | Missense_Mutation | novel | c.1743G>C | p.Leu581Phe | p.L581F | P78347 | protein_coding | tolerated(0.44) | possibly_damaging(0.681) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GTF2I | SNV | Missense_Mutation | novel | c.525N>C | p.Glu175Asp | p.E175D | P78347 | protein_coding | tolerated(0.11) | probably_damaging(0.996) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |