GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00512245 | Skin | cSCC | negative regulation of protein transport | 50/4864 | 127/18723 | 6.32e-04 | 4.55e-03 | 50 |
GO:0009410110 | Skin | cSCC | response to xenobiotic stimulus | 151/4864 | 462/18723 | 6.76e-04 | 4.82e-03 | 151 |
GO:000974328 | Skin | cSCC | response to carbohydrate | 88/4864 | 253/18723 | 1.11e-03 | 7.31e-03 | 88 |
GO:003428427 | Skin | cSCC | response to monosaccharide | 79/4864 | 225/18723 | 1.43e-03 | 9.02e-03 | 79 |
GO:190314615 | Skin | cSCC | regulation of autophagy of mitochondrion | 17/4864 | 33/18723 | 1.50e-03 | 9.36e-03 | 17 |
GO:00903115 | Skin | cSCC | regulation of protein deacetylation | 22/4864 | 48/18723 | 2.31e-03 | 1.35e-02 | 22 |
GO:003257017 | Skin | cSCC | response to progesterone | 18/4864 | 37/18723 | 2.52e-03 | 1.43e-02 | 18 |
GO:00066954 | Skin | cSCC | cholesterol biosynthetic process | 25/4864 | 57/18723 | 2.55e-03 | 1.45e-02 | 25 |
GO:19026534 | Skin | cSCC | secondary alcohol biosynthetic process | 25/4864 | 57/18723 | 2.55e-03 | 1.45e-02 | 25 |
GO:00161264 | Skin | cSCC | sterol biosynthetic process | 27/4864 | 64/18723 | 3.44e-03 | 1.86e-02 | 27 |
GO:19026525 | Skin | cSCC | secondary alcohol metabolic process | 53/4864 | 147/18723 | 4.33e-03 | 2.27e-02 | 53 |
GO:004668323 | Skin | cSCC | response to organophosphorus | 48/4864 | 131/18723 | 4.49e-03 | 2.30e-02 | 48 |
GO:005123527 | Skin | cSCC | maintenance of location | 106/4864 | 327/18723 | 5.17e-03 | 2.61e-02 | 106 |
GO:000828616 | Skin | cSCC | insulin receptor signaling pathway | 43/4864 | 116/18723 | 5.44e-03 | 2.73e-02 | 43 |
GO:003293313 | Skin | cSCC | SREBP signaling pathway | 9/4864 | 15/18723 | 5.52e-03 | 2.73e-02 | 9 |
GO:0009746111 | Skin | cSCC | response to hexose | 74/4864 | 219/18723 | 5.94e-03 | 2.93e-02 | 74 |
GO:00461654 | Skin | cSCC | alcohol biosynthetic process | 50/4864 | 140/18723 | 6.73e-03 | 3.27e-02 | 50 |
GO:0009749110 | Skin | cSCC | response to glucose | 71/4864 | 212/18723 | 8.71e-03 | 4.01e-02 | 71 |
GO:0097305112 | Skin | cSCC | response to alcohol | 83/4864 | 253/18723 | 8.81e-03 | 4.05e-02 | 83 |
GO:00466762 | Skin | cSCC | negative regulation of insulin secretion | 17/4864 | 38/18723 | 9.41e-03 | 4.25e-02 | 17 |
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 |