GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
GO:005109822 | Liver | HCC | regulation of binding | 225/7958 | 363/18723 | 3.78e-14 | 2.37e-12 | 225 |
GO:00182052 | Liver | HCC | peptidyl-lysine modification | 230/7958 | 376/18723 | 1.51e-13 | 8.32e-12 | 230 |
GO:00064732 | Liver | HCC | protein acetylation | 135/7958 | 201/18723 | 1.20e-12 | 5.92e-11 | 135 |
GO:00435432 | Liver | HCC | protein acylation | 157/7958 | 243/18723 | 2.40e-12 | 1.12e-10 | 157 |
GO:00183942 | Liver | HCC | peptidyl-lysine acetylation | 116/7958 | 169/18723 | 5.11e-12 | 2.23e-10 | 116 |
GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
GO:00064752 | Liver | HCC | internal protein amino acid acetylation | 107/7958 | 160/18723 | 3.77e-10 | 1.23e-08 | 107 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
GO:00183932 | Liver | HCC | internal peptidyl-lysine acetylation | 105/7958 | 158/18723 | 9.48e-10 | 2.90e-08 | 105 |
GO:001604921 | Liver | HCC | cell growth | 269/7958 | 482/18723 | 1.84e-09 | 5.35e-08 | 269 |
GO:00165732 | Liver | HCC | histone acetylation | 101/7958 | 152/18723 | 1.99e-09 | 5.63e-08 | 101 |
GO:003105621 | Liver | HCC | regulation of histone modification | 99/7958 | 152/18723 | 1.40e-08 | 3.40e-07 | 99 |
GO:00434141 | Liver | HCC | macromolecule methylation | 183/7958 | 316/18723 | 2.00e-08 | 4.72e-07 | 183 |
GO:004873222 | Liver | HCC | gland development | 242/7958 | 436/18723 | 2.26e-08 | 5.28e-07 | 242 |
GO:0032259 | Liver | HCC | methylation | 206/7958 | 364/18723 | 3.35e-08 | 7.53e-07 | 206 |
GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
GO:003295622 | Liver | HCC | regulation of actin cytoskeleton organization | 202/7958 | 358/18723 | 6.18e-08 | 1.29e-06 | 202 |
GO:000155821 | Liver | HCC | regulation of cell growth | 228/7958 | 414/18723 | 1.34e-07 | 2.55e-06 | 228 |
GO:00064792 | Liver | HCC | protein methylation | 111/7958 | 181/18723 | 2.36e-07 | 4.18e-06 | 111 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
SMAD4 | BMEM | Breast | ADJ | FEZ2,CTHRC1,CRYBG3, etc. | 2.43e-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/Breast/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
SMAD4 | PLA | Breast | Healthy | FEZ2,CTHRC1,CRYBG3, etc. | 8.04e-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/Breast/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
SMAD4 | PLA | Breast | Precancer | FEZ2,CTHRC1,CRYBG3, etc. | 1.23e-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/Breast/Str/TF_Precancer/regulons_activity_in_dotplot.png) |
SMAD4 | BMEM | Breast | Precancer | FEZ2,CTHRC1,CRYBG3, etc. | 1.07e-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/Breast/Str/TF_Precancer/regulons_activity_in_dotplot.png) |
SMAD4 | MES | Cervix | N_HPV | TSPAN2,SERPINE2,LOXL1-AS1, etc. | 3.04e-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/Cervix/Str/TF_N_HPV/regulons_activity_in_dotplot.png) |
SMAD4 | ILC | Colorectum | CRC | EFCAB5,NIPSNAP1,CBR4, etc. | 1.96e-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_CRC/regulons_activity_in_dotplot.png) |
SMAD4 | ILC | Colorectum | FAP | EFCAB5,NIPSNAP1,CBR4, etc. | 2.35e-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_FAP/regulons_activity_in_dotplot.png) |
SMAD4 | CD8TCM | Colorectum | Healthy | EFCAB5,NIPSNAP1,CBR4, etc. | 7.71e-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_Healthy/regulons_activity_in_dotplot.png) |
SMAD4 | TFH | Colorectum | SER | EFCAB5,NIPSNAP1,CBR4, 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_SER/regulons_activity_in_dotplot.png) |
SMAD4 | TH17 | Endometrium | ADJ | ATRX,RABEPK,ZNF615, etc. | 6.78e-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) |
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 |
SMAD4 | SNV | Missense_Mutation | | c.326N>G | p.Leu109Arg | p.L109R | Q13485 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-A2-A25B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | PD |
SMAD4 | SNV | Missense_Mutation | | c.394C>T | p.His132Tyr | p.H132Y | Q13485 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SMAD4 | SNV | Missense_Mutation | rs377767347 | c.1082N>A | p.Arg361His | p.R361H | Q13485 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-B6-A2IU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SMAD4 | SNV | Missense_Mutation | novel | c.809G>T | p.Gly270Val | p.G270V | Q13485 | protein_coding | deleterious(0.04) | possibly_damaging(0.543) | TCGA-GM-A3NW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
SMAD4 | SNV | Missense_Mutation | | c.1051N>C | p.Asp351His | p.D351H | Q13485 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-XX-A89A-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD4 | insertion | Frame_Shift_Ins | novel | c.141_142insCCCACACTACCATGCCTGGCGAACCTCCTACATTTTTTTAGAC | p.Lys48ProfsTer20 | p.K48Pfs*20 | Q13485 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
SMAD4 | deletion | Frame_Shift_Del | | c.945delC | p.Asn316IlefsTer20 | p.N316Ifs*20 | Q13485 | protein_coding | | | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD4 | deletion | Frame_Shift_Del | | c.687delN | p.Gly231AlafsTer10 | p.G231Afs*10 | Q13485 | protein_coding | | | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD4 | insertion | Frame_Shift_Ins | novel | c.283_284insTTTCTTTTTTAGGTTATCCTGA | p.Tyr95PhefsTer16 | p.Y95Ffs*16 | Q13485 | protein_coding | | | TCGA-AN-A0FL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMAD4 | deletion | Frame_Shift_Del | novel | c.1367delN | p.Ala456ValfsTer20 | p.A456Vfs*20 | Q13485 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Sapanisertib | SAPANISERTIB | 25261369 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Gemcitabine | GEMCITABINE | 22753594 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | FLUOROURACIL | FLUOROURACIL | 12237773 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Cisplatin | CISPLATIN | 22753594 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | GEMCITABINE | GEMCITABINE | 28577946 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | LYSINE | LYSINE | 27875625 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Crizotinib | CRIZOTINIB | 28476735 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | N/A | | 19584151,25681512,22504380,19478385,25749173,26947875,26861460,25760429 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Paclitaxel | PACLITAXEL | 28514312 |
4089 | SMAD4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, DRUG RESISTANCE, KINASE | | Carboplatin | CARBOPLATIN | 28514312 |