GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000698411 | Liver | HCC | ER-nucleus signaling pathway | 38/7958 | 46/18723 | 2.68e-08 | 6.17e-07 | 38 |
GO:004259421 | Liver | HCC | response to starvation | 121/7958 | 197/18723 | 6.08e-08 | 1.28e-06 | 121 |
GO:00082862 | Liver | HCC | insulin receptor signaling pathway | 78/7958 | 116/18723 | 6.15e-08 | 1.29e-06 | 78 |
GO:006201222 | Liver | HCC | regulation of small molecule metabolic process | 190/7958 | 334/18723 | 6.77e-08 | 1.40e-06 | 190 |
GO:003166912 | Liver | HCC | cellular response to nutrient levels | 130/7958 | 215/18723 | 7.52e-08 | 1.51e-06 | 130 |
GO:190165422 | Liver | HCC | response to ketone | 119/7958 | 194/18723 | 8.65e-08 | 1.72e-06 | 119 |
GO:000974322 | Liver | HCC | response to carbohydrate | 149/7958 | 253/18723 | 9.55e-08 | 1.89e-06 | 149 |
GO:190321411 | Liver | HCC | regulation of protein targeting to mitochondrion | 36/7958 | 44/18723 | 1.02e-07 | 1.98e-06 | 36 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:00066951 | Liver | HCC | cholesterol biosynthetic process | 43/7958 | 57/18723 | 4.37e-07 | 7.23e-06 | 43 |
GO:19026531 | Liver | HCC | secondary alcohol biosynthetic process | 43/7958 | 57/18723 | 4.37e-07 | 7.23e-06 | 43 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:00161261 | Liver | HCC | sterol biosynthetic process | 47/7958 | 64/18723 | 5.00e-07 | 8.11e-06 | 47 |
GO:000941022 | Liver | HCC | response to xenobiotic stimulus | 248/7958 | 462/18723 | 6.47e-07 | 1.02e-05 | 248 |
GO:190314611 | Liver | HCC | regulation of autophagy of mitochondrion | 28/7958 | 33/18723 | 6.57e-07 | 1.03e-05 | 28 |
GO:003428422 | Liver | HCC | response to monosaccharide | 131/7958 | 225/18723 | 1.32e-06 | 1.91e-05 | 131 |
GO:00066942 | Liver | HCC | steroid biosynthetic process | 104/7958 | 173/18723 | 2.13e-06 | 2.91e-05 | 104 |
GO:004218021 | Liver | HCC | cellular ketone metabolic process | 123/7958 | 211/18723 | 2.52e-06 | 3.37e-05 | 123 |
GO:004501711 | Liver | HCC | glycerolipid biosynthetic process | 143/7958 | 252/18723 | 3.27e-06 | 4.31e-05 | 143 |
GO:000756822 | Liver | HCC | aging | 185/7958 | 339/18723 | 4.28e-06 | 5.50e-05 | 185 |
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 |