Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/MBD2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/MBD2_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/MBD2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/MBD2_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/MBD2_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/MBD2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/MBD2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/MBD2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![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/Thyroid/MBD2_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160557 | Cervix | CC | Wnt signaling pathway | 98/2311 | 444/18723 | 4.82e-09 | 4.65e-07 | 98 |
GO:01987387 | Cervix | CC | cell-cell signaling by wnt | 98/2311 | 446/18723 | 6.16e-09 | 5.58e-07 | 98 |
GO:00301117 | Cervix | CC | regulation of Wnt signaling pathway | 76/2311 | 328/18723 | 3.05e-08 | 2.08e-06 | 76 |
GO:005109810 | Cervix | CC | regulation of binding | 80/2311 | 363/18723 | 1.32e-07 | 6.42e-06 | 80 |
GO:00075689 | Cervix | CC | aging | 75/2311 | 339/18723 | 2.75e-07 | 1.13e-05 | 75 |
GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
GO:005109910 | Cervix | CC | positive regulation of binding | 42/2311 | 173/18723 | 1.07e-05 | 2.33e-04 | 42 |
GO:00096127 | Cervix | CC | response to mechanical stimulus | 48/2311 | 216/18723 | 3.23e-05 | 5.29e-04 | 48 |
GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
GO:00323556 | Cervix | CC | response to estradiol | 34/2311 | 141/18723 | 8.19e-05 | 1.11e-03 | 34 |
GO:00301776 | Cervix | CC | positive regulation of Wnt signaling pathway | 31/2311 | 140/18723 | 8.01e-04 | 7.02e-03 | 31 |
GO:00510528 | Cervix | CC | regulation of DNA metabolic process | 65/2311 | 359/18723 | 9.25e-04 | 7.84e-03 | 65 |
GO:00063381 | Cervix | CC | chromatin remodeling | 45/2311 | 255/18723 | 8.33e-03 | 4.30e-02 | 45 |
GO:000961222 | Cervix | N_HPV | response to mechanical stimulus | 19/534 | 216/18723 | 1.46e-05 | 4.55e-04 | 19 |
GO:005109815 | Cervix | N_HPV | regulation of binding | 26/534 | 363/18723 | 1.75e-05 | 5.22e-04 | 26 |
GO:003166724 | Cervix | N_HPV | response to nutrient levels | 29/534 | 474/18723 | 1.04e-04 | 2.08e-03 | 29 |
GO:005109915 | Cervix | N_HPV | positive regulation of binding | 15/534 | 173/18723 | 1.35e-04 | 2.55e-03 | 15 |
GO:000756824 | Cervix | N_HPV | aging | 21/534 | 339/18723 | 7.77e-04 | 9.73e-03 | 21 |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0051099 | Colorectum | AD | positive regulation of binding | 66/3918 | 173/18723 | 1.47e-07 | 6.64e-06 | 66 |
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 |
MBD2 | SNV | Missense_Mutation | novel | c.1139N>A | p.Arg380His | p.R380H | Q9UBB5 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.818N>A | p.Arg273Gln | p.R273Q | Q9UBB5 | protein_coding | tolerated(0.08) | benign(0.015) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.1033N>A | p.Glu345Lys | p.E345K | Q9UBB5 | protein_coding | deleterious(0.04) | probably_damaging(0.963) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.818N>T | p.Arg273Leu | p.R273L | Q9UBB5 | protein_coding | deleterious(0.01) | possibly_damaging(0.451) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
MBD2 | SNV | Missense_Mutation | novel | c.626N>T | p.Arg209Ile | p.R209I | Q9UBB5 | protein_coding | deleterious(0) | probably_damaging(0.92) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.1143N>T | p.Lys381Asn | p.K381N | Q9UBB5 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.1143G>T | p.Lys381Asn | p.K381N | Q9UBB5 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
MBD2 | insertion | Nonsense_Mutation | novel | c.1151_1152insGGGAACATAAATAACAAAGGAAAAGTGACTTGTTCAT | p.Glu385GlyfsTer3 | p.E385Gfs*3 | Q9UBB5 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
MBD2 | insertion | Frame_Shift_Ins | novel | c.967_968insTCCACCCCAGATCCCACTGG | p.Ser323PhefsTer72 | p.S323Ffs*72 | Q9UBB5 | protein_coding | | | TCGA-B5-A11V-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD2 | SNV | Missense_Mutation | novel | c.1228N>A | p.Glu410Lys | p.E410K | Q9UBB5 | protein_coding | deleterious_low_confidence(0) | benign(0.395) | TCGA-78-8662-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |