GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030099 | Colorectum | AD | myeloid cell differentiation | 119/3918 | 381/18723 | 1.24e-06 | 4.01e-05 | 119 |
GO:0034504 | Colorectum | AD | protein localization to nucleus | 94/3918 | 290/18723 | 2.83e-06 | 8.09e-05 | 94 |
GO:0045785 | Colorectum | AD | positive regulation of cell adhesion | 122/3918 | 437/18723 | 2.65e-04 | 3.28e-03 | 122 |
GO:1903706 | Colorectum | AD | regulation of hemopoiesis | 99/3918 | 367/18723 | 3.08e-03 | 2.28e-02 | 99 |
GO:0045637 | Colorectum | AD | regulation of myeloid cell differentiation | 61/3918 | 210/18723 | 3.17e-03 | 2.35e-02 | 61 |
GO:0048736 | Colorectum | AD | appendage development | 51/3918 | 172/18723 | 4.20e-03 | 2.89e-02 | 51 |
GO:0060173 | Colorectum | AD | limb development | 51/3918 | 172/18723 | 4.20e-03 | 2.89e-02 | 51 |
GO:0001503 | Colorectum | AD | ossification | 106/3918 | 408/18723 | 7.68e-03 | 4.64e-02 | 106 |
GO:0001865 | Colorectum | AD | NK T cell differentiation | 6/3918 | 10/18723 | 8.03e-03 | 4.73e-02 | 6 |
GO:00345041 | Colorectum | SER | protein localization to nucleus | 74/2897 | 290/18723 | 5.74e-06 | 2.05e-04 | 74 |
GO:00457851 | Colorectum | SER | positive regulation of cell adhesion | 93/2897 | 437/18723 | 6.78e-04 | 9.04e-03 | 93 |
GO:00487361 | Colorectum | SER | appendage development | 42/2897 | 172/18723 | 1.43e-03 | 1.55e-02 | 42 |
GO:00601731 | Colorectum | SER | limb development | 42/2897 | 172/18723 | 1.43e-03 | 1.55e-02 | 42 |
GO:00300991 | Colorectum | SER | myeloid cell differentiation | 80/2897 | 381/18723 | 2.28e-03 | 2.18e-02 | 80 |
GO:0045444 | Colorectum | SER | fat cell differentiation | 51/2897 | 229/18723 | 3.96e-03 | 3.26e-02 | 51 |
GO:0045600 | Colorectum | SER | positive regulation of fat cell differentiation | 19/2897 | 66/18723 | 4.29e-03 | 3.45e-02 | 19 |
GO:0035107 | Colorectum | SER | appendage morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:0035108 | Colorectum | SER | limb morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:00015031 | Colorectum | SER | ossification | 82/2897 | 408/18723 | 6.76e-03 | 4.78e-02 | 82 |
GO:00345042 | Colorectum | MSS | protein localization to nucleus | 92/3467 | 290/18723 | 3.66e-08 | 1.98e-06 | 92 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
ZBTB1 | MSC | Breast | ADJ | HK2,REL,RBBP6, etc. | 6.65e-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/Breast/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
ZBTB1 | CAF | Breast | DCIS | HK2,REL,RBBP6, etc. | 5.85e-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_DCIS/regulons_activity_in_dotplot.png) |
ZBTB1 | MSC | Breast | Healthy | HK2,REL,RBBP6, etc. | 7.45e-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) |
ZBTB1 | MSC | Breast | Precancer | HK2,REL,RBBP6, etc. | 2.37e-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) |
ZBTB1 | TREG | Cervix | ADJ | CCL4L2,AKAP5,ZC3H18, etc. | 1.49e-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_ADJ/regulons_activity_in_dotplot.png) |
ZBTB1 | ICAF | Colorectum | SER | COL4A5,CTSK,C16orf87, etc. | 3.86e-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_SER/regulons_activity_in_dotplot.png) |
ZBTB1 | INCAF | Endometrium | ADJ | FAM156B,ZNF101,GDF7, etc. | 6.05e-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_ADJ/regulons_activity_in_dotplot.png) |
ZBTB1 | FIB | Endometrium | ADJ | FAM156B,ZNF101,GDF7, etc. | 1.39e-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) |
ZBTB1 | INCAF | Endometrium | AEH | FAM156B,ZNF101,GDF7, etc. | 6.02e-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) |
ZBTB1 | ICAF | Endometrium | AEH | FAM156B,ZNF101,GDF7, etc. | 7.24e-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/Endometrium/Str/TF_AEH/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 |
ZBTB1 | SNV | Missense_Mutation | | c.1458G>C | p.Glu486Asp | p.E486D | Q9Y2K1 | protein_coding | tolerated(0.6) | benign(0.16) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ZBTB1 | SNV | Missense_Mutation | | c.204N>A | p.Met68Ile | p.M68I | Q9Y2K1 | protein_coding | tolerated(0.08) | benign(0.031) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ZBTB1 | SNV | Missense_Mutation | rs148266968 | c.961N>A | p.Glu321Lys | p.E321K | Q9Y2K1 | protein_coding | tolerated(0.5) | benign(0.092) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ZBTB1 | SNV | Missense_Mutation | novel | c.1898G>A | p.Arg633Lys | p.R633K | Q9Y2K1 | protein_coding | tolerated(0.11) | probably_damaging(0.935) | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
ZBTB1 | insertion | Nonsense_Mutation | novel | c.1901_1902insATGAGA | p.Tyr634delinsTer | p.Y634delins* | Q9Y2K1 | protein_coding | | | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZBTB1 | deletion | Frame_Shift_Del | rs747075448 | c.1140delN | p.Ser383ValfsTer6 | p.S383Vfs*6 | Q9Y2K1 | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZBTB1 | insertion | Frame_Shift_Ins | novel | c.687_688insCTGGAGGGAGC | p.Leu231GlufsTer5 | p.L231Efs*5 | Q9Y2K1 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
ZBTB1 | deletion | Frame_Shift_Del | novel | c.1885delN | p.Gly630AlafsTer24 | p.G630Afs*24 | Q9Y2K1 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZBTB1 | SNV | Missense_Mutation | rs143630259 | c.1406N>A | p.Arg469Gln | p.R469Q | Q9Y2K1 | protein_coding | deleterious(0.03) | benign(0.232) | TCGA-EK-A2RC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZBTB1 | SNV | Missense_Mutation | | c.1476G>C | p.Glu492Asp | p.E492D | Q9Y2K1 | protein_coding | tolerated(0.42) | benign(0.428) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |