GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004328126 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 59/2587 | 209/18723 | 3.39e-08 | 1.97e-06 | 59 |
GO:200011626 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity | 63/2587 | 235/18723 | 9.71e-08 | 5.02e-06 | 63 |
GO:005254726 | Esophagus | HGIN | regulation of peptidase activity | 102/2587 | 461/18723 | 6.29e-07 | 2.72e-05 | 102 |
GO:000632516 | Esophagus | HGIN | chromatin organization | 92/2587 | 409/18723 | 1.05e-06 | 4.16e-05 | 92 |
GO:005254826 | Esophagus | HGIN | regulation of endopeptidase activity | 96/2587 | 432/18723 | 1.09e-06 | 4.30e-05 | 96 |
GO:00198277 | Esophagus | HGIN | stem cell population maintenance | 39/2587 | 131/18723 | 1.63e-06 | 6.14e-05 | 39 |
GO:00987278 | Esophagus | HGIN | maintenance of cell number | 39/2587 | 134/18723 | 3.02e-06 | 1.03e-04 | 39 |
GO:004873225 | Esophagus | HGIN | gland development | 88/2587 | 436/18723 | 1.34e-04 | 2.71e-03 | 88 |
GO:000164917 | Esophagus | HGIN | osteoblast differentiation | 50/2587 | 229/18723 | 5.88e-04 | 8.30e-03 | 50 |
GO:003011116 | Esophagus | HGIN | regulation of Wnt signaling pathway | 65/2587 | 328/18723 | 1.53e-03 | 1.77e-02 | 65 |
GO:001605516 | Esophagus | HGIN | Wnt signaling pathway | 83/2587 | 444/18723 | 2.27e-03 | 2.33e-02 | 83 |
GO:019873816 | Esophagus | HGIN | cell-cell signaling by wnt | 83/2587 | 446/18723 | 2.58e-03 | 2.55e-02 | 83 |
GO:0035019 | Esophagus | HGIN | somatic stem cell population maintenance | 13/2587 | 42/18723 | 3.32e-03 | 3.12e-02 | 13 |
GO:006082816 | Esophagus | HGIN | regulation of canonical Wnt signaling pathway | 50/2587 | 253/18723 | 5.27e-03 | 4.35e-02 | 50 |
GO:000150316 | Esophagus | HGIN | ossification | 75/2587 | 408/18723 | 5.49e-03 | 4.49e-02 | 75 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
SOX2 | TRANS | Cervix | N_HPV | AMTN,CSTA,LYPD3, etc. | 2.21e-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) |
SOX2 | TUF | Colorectum | AD | SMOC2,NR2F1,LRP4, etc. | 8.69e-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_AD/regulons_activity_in_dotplot.png) |
SOX2 | SSC | Colorectum | AD | SMOC2,NR2F1,LRP4, 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/Colorectum/Str/TF_AD/regulons_activity_in_dotplot.png) |
SOX2 | STM | Colorectum | MSI-H | SMOC2,NR2F1,LRP4, etc. | 1.31e-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_MSI-H/regulons_activity_in_dotplot.png) |
SOX2 | STM | Colorectum | SER | SMOC2,NR2F1,LRP4, etc. | 4.18e-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_SER/regulons_activity_in_dotplot.png) |
SOX2 | CILIA | Lung | AAH | CAPS,AC025580.1,ALDH1A1, etc. | 6.61e-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_AAH/regulons_activity_in_dotplot.png) |
SOX2 | ABP | Lung | ADJ | CAPS,AC025580.1,ALDH1A1, etc. | 2.88e-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_ADJ/regulons_activity_in_dotplot.png) |
SOX2 | CILIA | Lung | ADJ | CAPS,AC025580.1,ALDH1A1, etc. | 4.86e-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) |
SOX2 | STM | Lung | ADJ | CAPS,AC025580.1,ALDH1A1, etc. | 1.85e-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_ADJ/regulons_activity_in_dotplot.png) |
SOX2 | CLUB | Lung | AIS | CAPS,AC025580.1,ALDH1A1, etc. | 8.82e-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/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 |
SOX2 | SNV | Missense_Mutation | novel | c.902N>A | p.Gly301Asp | p.G301D | P48431 | protein_coding | deleterious(0.03) | benign(0.11) | TCGA-D1-A1O7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | novel | c.262N>T | p.Arg88Trp | p.R88W | P48431 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | novel | c.347N>A | p.Thr116Asn | p.T116N | P48431 | protein_coding | deleterious(0.02) | possibly_damaging(0.688) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | novel | c.158G>A | p.Arg53His | p.R53H | P48431 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | | c.133N>T | p.Met45Leu | p.M45L | P48431 | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-22-4613-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | rs777862989 | c.70N>C | p.Asn24His | p.N24H | P48431 | protein_coding | tolerated(0.21) | benign(0.007) | TCGA-56-A5DR-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | novel | c.371N>G | p.Lys124Arg | p.K124R | P48431 | protein_coding | deleterious(0) | benign(0.25) | TCGA-58-A46J-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | CR |
SOX2 | SNV | Missense_Mutation | novel | c.716C>A | p.Ser239Tyr | p.S239Y | P48431 | protein_coding | deleterious(0.01) | benign(0.418) | TCGA-CQ-5327-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
SOX2 | SNV | Missense_Mutation | | c.695C>T | p.Thr232Ile | p.T232I | P48431 | protein_coding | tolerated(0.06) | benign(0.013) | TCGA-CR-7392-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOX2 | SNV | Missense_Mutation | novel | c.725C>T | p.Ser242Leu | p.S242L | P48431 | protein_coding | deleterious(0) | benign(0.021) | TCGA-CV-6934-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |