GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:002241113 | Breast | DCIS | cellular component disassembly | 48/1390 | 443/18723 | 5.35e-03 | 3.92e-02 | 48 |
GO:006201213 | Breast | DCIS | regulation of small molecule metabolic process | 38/1390 | 334/18723 | 5.69e-03 | 4.10e-02 | 38 |
GO:000926713 | Breast | DCIS | cellular response to starvation | 21/1390 | 156/18723 | 5.74e-03 | 4.13e-02 | 21 |
GO:007169222 | Breast | DCIS | protein localization to extracellular region | 41/1390 | 368/18723 | 6.01e-03 | 4.29e-02 | 41 |
GO:000930622 | Breast | DCIS | protein secretion | 40/1390 | 359/18723 | 6.59e-03 | 4.61e-02 | 40 |
GO:003559222 | Breast | DCIS | establishment of protein localization to extracellular region | 40/1390 | 360/18723 | 6.90e-03 | 4.77e-02 | 40 |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:007149610 | Cervix | CC | cellular response to external stimulus | 78/2311 | 320/18723 | 1.82e-09 | 1.98e-07 | 78 |
GO:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
GO:00075689 | Cervix | CC | aging | 75/2311 | 339/18723 | 2.75e-07 | 1.13e-05 | 75 |
GO:00316689 | Cervix | CC | cellular response to extracellular stimulus | 59/2311 | 246/18723 | 3.03e-07 | 1.24e-05 | 59 |
GO:00068399 | Cervix | CC | mitochondrial transport | 60/2311 | 254/18723 | 4.21e-07 | 1.67e-05 | 60 |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:000660510 | Cervix | CC | protein targeting | 68/2311 | 314/18723 | 2.17e-06 | 6.55e-05 | 68 |
GO:00485118 | Cervix | CC | rhythmic process | 65/2311 | 298/18723 | 2.79e-06 | 8.04e-05 | 65 |
GO:00323868 | Cervix | CC | regulation of intracellular transport | 71/2311 | 337/18723 | 3.70e-06 | 9.74e-05 | 71 |
GO:00454445 | Cervix | CC | fat cell differentiation | 53/2311 | 229/18723 | 3.72e-06 | 9.75e-05 | 53 |
GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
GO:00331579 | Cervix | CC | regulation of intracellular protein transport | 52/2311 | 229/18723 | 8.16e-06 | 1.88e-04 | 52 |
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 |