GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000762319 | Esophagus | ESCC | circadian rhythm | 119/8552 | 210/18723 | 8.47e-04 | 4.36e-03 | 119 |
GO:00329335 | Esophagus | ESCC | SREBP signaling pathway | 13/8552 | 15/18723 | 1.31e-03 | 6.26e-03 | 13 |
GO:00066946 | Esophagus | ESCC | steroid biosynthetic process | 98/8552 | 173/18723 | 2.34e-03 | 1.03e-02 | 98 |
GO:0097305111 | Esophagus | ESCC | response to alcohol | 138/8552 | 253/18723 | 2.70e-03 | 1.14e-02 | 138 |
GO:00512244 | Esophagus | ESCC | negative regulation of protein transport | 74/8552 | 127/18723 | 2.86e-03 | 1.21e-02 | 74 |
GO:19049505 | Esophagus | ESCC | negative regulation of establishment of protein localization | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:00082034 | Esophagus | ESCC | cholesterol metabolic process | 79/8552 | 137/18723 | 3.11e-03 | 1.29e-02 | 79 |
GO:000930617 | Esophagus | ESCC | protein secretion | 190/8552 | 359/18723 | 3.22e-03 | 1.34e-02 | 190 |
GO:00310652 | Esophagus | ESCC | positive regulation of histone deacetylation | 15/8552 | 19/18723 | 3.29e-03 | 1.35e-02 | 15 |
GO:003559217 | Esophagus | ESCC | establishment of protein localization to extracellular region | 190/8552 | 360/18723 | 3.77e-03 | 1.53e-02 | 190 |
GO:000929911 | Esophagus | ESCC | mRNA transcription | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:00715015 | Esophagus | ESCC | cellular response to sterol depletion | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:00325261 | Esophagus | ESCC | response to retinoic acid | 63/8552 | 107/18723 | 4.05e-03 | 1.62e-02 | 63 |
GO:00161254 | Esophagus | ESCC | sterol metabolic process | 86/8552 | 152/18723 | 4.37e-03 | 1.73e-02 | 86 |
GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
GO:00069914 | Esophagus | ESCC | response to sterol depletion | 14/8552 | 18/18723 | 5.77e-03 | 2.14e-02 | 14 |
GO:19016174 | Esophagus | ESCC | organic hydroxy compound biosynthetic process | 128/8552 | 237/18723 | 5.86e-03 | 2.16e-02 | 128 |
GO:00108836 | Esophagus | ESCC | regulation of lipid storage | 36/8552 | 57/18723 | 5.87e-03 | 2.17e-02 | 36 |
GO:003257016 | Esophagus | ESCC | response to progesterone | 25/8552 | 37/18723 | 5.94e-03 | 2.19e-02 | 25 |
GO:0009743111 | Esophagus | ESCC | response to carbohydrate | 135/8552 | 253/18723 | 8.16e-03 | 2.89e-02 | 135 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
EBF1 | CFIB | Colorectum | ADJ | FBN1,DLC1,BCKDHB, etc. | 4.28e-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_ADJ/regulons_activity_in_dotplot.png) |
EBF1 | CFIB | Colorectum | Healthy | FBN1,DLC1,BCKDHB, etc. | 1.84e-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_Healthy/regulons_activity_in_dotplot.png) |
EBF1 | MALTB | Endometrium | ADJ | BANK1,PLEKHG1,TNFRSF13C, etc. | 6.48e-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/Endometrium/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
EBF1 | MALTB | Endometrium | AEH | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.87e-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) |
EBF1 | MALTB | Endometrium | EEC | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.49e-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_EEC/regulons_activity_in_dotplot.png) |
EBF1 | MALTB | Endometrium | Healthy | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.12e-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_Healthy/regulons_activity_in_dotplot.png) |
EBF1 | PERI | Esophagus | ESCC | CD248,FBN1,OLFML2A, etc. | 2.59e-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/Esophagus/Str/TF_ESCC/regulons_activity_in_dotplot.png) |
EBF1 | BN | Lung | AAH | BANK1,MS4A1,OSBPL10, etc. | 1.28e-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) |
EBF1 | BN | Lung | MIAC | BANK1,MEF2C,AFF3, etc. | 2.51e-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_MIAC/regulons_activity_in_dotplot.png) |
EBF1 | MALTB | Lung | MIAC | BANK1,MEF2C,AFF3, etc. | 1.43e-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_MIAC/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 |
EBF1 | SNV | Missense_Mutation | | c.1529N>G | p.Ala510Gly | p.A510G | Q9UH73 | protein_coding | tolerated_low_confidence(0.11) | benign(0.066) | TCGA-A2-A0YT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD |
EBF1 | SNV | Missense_Mutation | | c.1211N>T | p.Ala404Val | p.A404V | Q9UH73 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.948) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
EBF1 | SNV | Missense_Mutation | novel | c.1706N>A | p.Pro569His | p.P569H | Q9UH73 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.95) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | rs556574598 | c.1397N>T | p.Ser466Leu | p.S466L | Q9UH73 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.52) | TCGA-BH-A28O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
EBF1 | SNV | Missense_Mutation | rs556574598 | c.1397N>T | p.Ser466Leu | p.S466L | Q9UH73 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.52) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EBF1 | insertion | Frame_Shift_Ins | novel | c.801_802insTGTT | p.Ser268CysfsTer2 | p.S268Cfs*2 | Q9UH73 | protein_coding | | | TCGA-AO-A0JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophospamide | SD |
EBF1 | insertion | Frame_Shift_Ins | novel | c.800_801insTAGCAGTTGGGTACCTGGATGTAGGACTTTAAATTGGG | p.Pro269SerfsTer25 | p.P269Sfs*25 | Q9UH73 | protein_coding | | | TCGA-AO-A0JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophospamide | SD |
EBF1 | SNV | Missense_Mutation | rs181351521 | c.1501G>A | p.Gly501Ser | p.G501S | Q9UH73 | protein_coding | tolerated_low_confidence(0.16) | benign(0.009) | TCGA-3L-AA1B-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | | c.802N>T | p.Ser268Cys | p.S268C | Q9UH73 | protein_coding | tolerated(0.17) | benign(0.228) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | | c.1055N>A | p.Ile352Asn | p.I352N | Q9UH73 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |