GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:2001242111 | Esophagus | ESCC | regulation of intrinsic apoptotic signaling pathway | 128/8552 | 164/18723 | 1.75e-17 | 1.50e-15 | 128 |
GO:2001235110 | Esophagus | ESCC | positive regulation of apoptotic signaling pathway | 92/8552 | 126/18723 | 3.91e-10 | 1.05e-08 | 92 |
GO:00097919 | Esophagus | ESCC | post-embryonic development | 56/8552 | 80/18723 | 9.08e-06 | 8.71e-05 | 56 |
GO:200124417 | Esophagus | ESCC | positive regulation of intrinsic apoptotic signaling pathway | 43/8552 | 58/18723 | 9.86e-06 | 9.37e-05 | 43 |
GO:200123320 | Oral cavity | OSCC | regulation of apoptotic signaling pathway | 242/7305 | 356/18723 | 6.66e-29 | 3.24e-26 | 242 |
GO:009719320 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway | 202/7305 | 288/18723 | 4.64e-27 | 1.73e-24 | 202 |
GO:200124220 | Oral cavity | OSCC | regulation of intrinsic apoptotic signaling pathway | 123/7305 | 164/18723 | 5.71e-21 | 9.77e-19 | 123 |
GO:200123510 | Oral cavity | OSCC | positive regulation of apoptotic signaling pathway | 92/7305 | 126/18723 | 8.45e-15 | 5.19e-13 | 92 |
GO:20012449 | Oral cavity | OSCC | positive regulation of intrinsic apoptotic signaling pathway | 44/7305 | 58/18723 | 1.22e-08 | 2.48e-07 | 44 |
GO:00097918 | Oral cavity | OSCC | post-embryonic development | 51/7305 | 80/18723 | 6.43e-06 | 7.13e-05 | 51 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
PLAGL2 | MDSCs | Oral cavity | LP | RP5-1028K7.2,LINC01281,GRAMD3, etc. | 1.20e-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/OralCavity/Str/TF_LP/regulons_activity_in_dotplot.png) |
PLAGL2 | INMON | Oral cavity | NEOLP | RP5-1028K7.2,LINC01281,GRAMD3, etc. | 4.61e-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/OralCavity/Str/TF_NEOLP/regulons_activity_in_dotplot.png) |
PLAGL2 | NK | Oral cavity | NEOLP | RP5-1028K7.2,LINC01281,GRAMD3, etc. | 1.75e-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/OralCavity/Str/TF_NEOLP/regulons_activity_in_dotplot.png) |
PLAGL2 | INMON | Oral cavity | OSCC | RP5-1028K7.2,LINC01281,GRAMD3, etc. | 1.75e-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/OralCavity/Str/TF_OSCC/regulons_activity_in_dotplot.png) |
PLAGL2 | INMON | Pancreas | ADJ | CDKN1C,LINC00339,SMIM25, etc. | 3.44e-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/Pancreas/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
PLAGL2 | INMON | Pancreas | PDAC | CDKN1C,LINC00339,SMIM25, etc. | 1.27e-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/Pancreas/Str/TF_PDAC/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 |
PLAGL2 | SNV | Missense_Mutation | | c.1087C>G | p.Leu363Val | p.L363V | Q9UPG8 | protein_coding | tolerated(0.16) | probably_damaging(0.952) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PLAGL2 | SNV | Missense_Mutation | novel | c.1160C>A | p.Ala387Asp | p.A387D | Q9UPG8 | protein_coding | tolerated(0.63) | benign(0.122) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PLAGL2 | SNV | Missense_Mutation | | c.811N>A | p.Glu271Lys | p.E271K | Q9UPG8 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PLAGL2 | SNV | Missense_Mutation | | c.190N>C | p.Glu64Gln | p.E64Q | Q9UPG8 | protein_coding | deleterious(0.01) | benign(0.284) | TCGA-DM-A28F-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
PLAGL2 | SNV | Missense_Mutation | rs760161049 | c.1063N>T | p.Pro355Ser | p.P355S | Q9UPG8 | protein_coding | tolerated(0.7) | benign(0.227) | TCGA-F4-6461-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PLAGL2 | SNV | Missense_Mutation | rs745622775 | c.923N>T | p.Thr308Met | p.T308M | Q9UPG8 | protein_coding | tolerated(0.09) | benign(0.39) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PLAGL2 | SNV | Missense_Mutation | novel | c.54N>T | p.Glu18Asp | p.E18D | Q9UPG8 | protein_coding | tolerated_low_confidence(0.51) | benign(0.161) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PLAGL2 | SNV | Missense_Mutation | | c.1306N>T | p.Gly436Cys | p.G436C | Q9UPG8 | protein_coding | deleterious(0.01) | possibly_damaging(0.907) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PLAGL2 | SNV | Missense_Mutation | rs781462741 | c.1123N>A | p.Ala375Thr | p.A375T | Q9UPG8 | protein_coding | tolerated(0.6) | benign(0.012) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PLAGL2 | SNV | Missense_Mutation | rs145582553 | c.1468C>T | p.Arg490Cys | p.R490C | Q9UPG8 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AX-A05Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |