Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/RFWD2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/RFWD2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/RFWD2_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/RFWD2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/RFWD2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![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/OralCavity/RFWD2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/RFWD2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0412014 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa0412015 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa04120 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
hsa041201 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
hsa041202 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041203 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041204 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041205 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041206 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa041207 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa0412016 | Endometrium | AEH | Ubiquitin mediated proteolysis | 41/1197 | 142/8465 | 3.42e-06 | 4.27e-05 | 3.13e-05 | 41 |
hsa0412017 | Endometrium | AEH | Ubiquitin mediated proteolysis | 41/1197 | 142/8465 | 3.42e-06 | 4.27e-05 | 3.13e-05 | 41 |
hsa0412023 | Endometrium | EEC | Ubiquitin mediated proteolysis | 41/1237 | 142/8465 | 7.86e-06 | 9.58e-05 | 7.14e-05 | 41 |
hsa0412033 | Endometrium | EEC | Ubiquitin mediated proteolysis | 41/1237 | 142/8465 | 7.86e-06 | 9.58e-05 | 7.14e-05 | 41 |
hsa0412010 | Liver | NAFLD | Ubiquitin mediated proteolysis | 44/1043 | 142/8465 | 2.59e-09 | 1.70e-07 | 1.37e-07 | 44 |
hsa0412011 | Liver | NAFLD | Ubiquitin mediated proteolysis | 44/1043 | 142/8465 | 2.59e-09 | 1.70e-07 | 1.37e-07 | 44 |
hsa0412021 | Liver | Cirrhotic | Ubiquitin mediated proteolysis | 72/2530 | 142/8465 | 1.32e-07 | 1.97e-06 | 1.21e-06 | 72 |
hsa0412031 | Liver | Cirrhotic | Ubiquitin mediated proteolysis | 72/2530 | 142/8465 | 1.32e-07 | 1.97e-06 | 1.21e-06 | 72 |
hsa0412041 | Liver | HCC | Ubiquitin mediated proteolysis | 110/4020 | 142/8465 | 1.67e-13 | 3.74e-12 | 2.08e-12 | 110 |
hsa041156 | Liver | HCC | p53 signaling pathway | 46/4020 | 74/8465 | 7.64e-03 | 2.08e-02 | 1.16e-02 | 46 |
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 |
RFWD2 | SNV | Missense_Mutation | novel | c.1537N>C | p.Glu513Gln | p.E513Q | Q8NHY2 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RFWD2 | SNV | Missense_Mutation | novel | c.1011N>A | p.Phe337Leu | p.F337L | Q8NHY2 | protein_coding | tolerated(0.33) | possibly_damaging(0.827) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RFWD2 | SNV | Missense_Mutation | rs753910989 | c.660G>C | p.Gln220His | p.Q220H | Q8NHY2 | protein_coding | tolerated(0.07) | probably_damaging(0.965) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RFWD2 | SNV | Missense_Mutation | | c.1412N>T | p.Ser471Leu | p.S471L | Q8NHY2 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-E2-A1IL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RFWD2 | insertion | In_Frame_Ins | novel | c.477_478insGAGAAAGAGTCCATGGGTCTCGGGAACTCAGGTTTGTTG | p.Cys159_Ile160insGluLysGluSerMetGlyLeuGlyAsnSerGlyLeuLeu | p.C159_I160insEKESMGLGNSGLL | Q8NHY2 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RFWD2 | insertion | In_Frame_Ins | novel | c.1325_1326insTGTAAG | p.Thr442_Lys443insValArg | p.T442_K443insVR | Q8NHY2 | protein_coding | | | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFWD2 | insertion | Frame_Shift_Ins | novel | c.1324_1325insT | p.Thr442IlefsTer5 | p.T442Ifs*5 | Q8NHY2 | protein_coding | | | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFWD2 | SNV | Missense_Mutation | novel | c.1846G>A | p.Ala616Thr | p.A616T | Q8NHY2 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
RFWD2 | SNV | Missense_Mutation | | c.1625C>G | p.Ser542Cys | p.S542C | Q8NHY2 | protein_coding | tolerated(0.49) | probably_damaging(0.995) | TCGA-IR-A3LF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RFWD2 | SNV | Missense_Mutation | novel | c.1636N>C | p.Asp546His | p.D546H | Q8NHY2 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |