Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/RFX2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/RFX2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/RFX2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
RFX2 | TRANS | Cervix | Healthy | GJB2,A2ML1,FAM83G, etc. | 2.70e-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/Cervix/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
RFX2 | M2MAC | Cervix | CC | ZNF793,CCNJ,RRAS, etc. | 2.35e-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/Cervix/Str/TF_CC/regulons_activity_in_dotplot.png) |
RFX2 | ILC | Colorectum | AD | ARHGAP21,GNA13,FAM107B, etc. | 2.92e-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_AD/regulons_activity_in_dotplot.png) |
RFX2 | MON | Colorectum | Healthy | ARHGAP21,GNA13,FAM107B, etc. | 1.14e-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) |
RFX2 | TFH | Colorectum | MSI-H | ARHGAP21,GNA13,FAM107B, etc. | 2.69e-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_MSI-H/regulons_activity_in_dotplot.png) |
RFX2 | CD8TEXINT | Colorectum | MSS | ARHGAP21,GNA13,FAM107B, etc. | 5.11e-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_MSS/regulons_activity_in_dotplot.png) |
RFX2 | CD8TCM | Colorectum | SER | ARHGAP21,GNA13,FAM107B, etc. | 4.78e-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/Colorectum/Str/TF_SER/regulons_activity_in_dotplot.png) |
RFX2 | MAIT | Colorectum | SER | ARHGAP21,GNA13,FAM107B, etc. | 1.92e-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_SER/regulons_activity_in_dotplot.png) |
RFX2 | MSC.SEC | Liver | Healthy | EMP1,NFATC2,AGPAT4, etc. | 5.43e-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/Liver/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
RFX2 | CILIA | Lung | AAH | ARFGEF3,MCU,SLC22A23, etc. | 4.81e-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) |
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 |
RFX2 | SNV | Missense_Mutation | novel | c.1339G>A | p.Asp447Asn | p.D447N | P48378 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RFX2 | SNV | Missense_Mutation | rs763173797 | c.314C>T | p.Thr105Met | p.T105M | P48378 | protein_coding | deleterious(0) | possibly_damaging(0.631) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RFX2 | SNV | Missense_Mutation | novel | c.881N>T | p.Pro294Leu | p.P294L | P48378 | protein_coding | deleterious(0.02) | benign(0.41) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
RFX2 | SNV | Missense_Mutation | novel | c.1487N>G | p.Val496Gly | p.V496G | P48378 | protein_coding | deleterious(0) | benign(0.303) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RFX2 | SNV | Missense_Mutation | novel | c.1010N>C | p.Tyr337Ser | p.Y337S | P48378 | protein_coding | deleterious(0) | benign(0.066) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
RFX2 | insertion | Frame_Shift_Ins | novel | c.1818dupC | p.Lys607GlnfsTer81 | p.K607Qfs*81 | P48378 | protein_coding | | | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RFX2 | insertion | Frame_Shift_Ins | novel | c.648dupC | p.Arg217GlnfsTer187 | p.R217Qfs*187 | P48378 | protein_coding | | | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RFX2 | deletion | Frame_Shift_Del | novel | c.985delN | p.Val329CysfsTer10 | p.V329Cfs*10 | P48378 | protein_coding | | | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
RFX2 | deletion | Frame_Shift_Del | | c.423delN | p.Ser142AlafsTer72 | p.S142Afs*72 | P48378 | protein_coding | | | TCGA-EY-A2OM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
RFX2 | SNV | Missense_Mutation | novel | c.1916N>T | p.His639Leu | p.H639L | P48378 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-69-A59K-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |