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/MBD4_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/MBD4_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/MBD4_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/MBD4_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/MBD4_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:003465519 | Esophagus | HGIN | nucleobase-containing compound catabolic process | 98/2587 | 407/18723 | 1.44e-08 | 8.94e-07 | 98 |
GO:004670017 | Esophagus | HGIN | heterocycle catabolic process | 103/2587 | 445/18723 | 5.44e-08 | 2.99e-06 | 103 |
GO:004427018 | Esophagus | HGIN | cellular nitrogen compound catabolic process | 103/2587 | 451/18723 | 1.10e-07 | 5.56e-06 | 103 |
GO:001943917 | Esophagus | HGIN | aromatic compound catabolic process | 105/2587 | 467/18723 | 1.89e-07 | 9.31e-06 | 105 |
GO:190136117 | Esophagus | HGIN | organic cyclic compound catabolic process | 106/2587 | 495/18723 | 1.94e-06 | 7.13e-05 | 106 |
GO:00196924 | Esophagus | HGIN | deoxyribose phosphate metabolic process | 16/2587 | 42/18723 | 7.90e-05 | 1.76e-03 | 16 |
GO:00092624 | Esophagus | HGIN | deoxyribonucleotide metabolic process | 16/2587 | 44/18723 | 1.51e-04 | 2.97e-03 | 16 |
GO:00093944 | Esophagus | HGIN | 2'-deoxyribonucleotide metabolic process | 15/2587 | 40/18723 | 1.62e-04 | 3.16e-03 | 15 |
GO:00092643 | Esophagus | HGIN | deoxyribonucleotide catabolic process | 12/2587 | 30/18723 | 3.62e-04 | 5.68e-03 | 12 |
GO:00463863 | Esophagus | HGIN | deoxyribose phosphate catabolic process | 12/2587 | 31/18723 | 5.17e-04 | 7.46e-03 | 12 |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
GO:00092233 | Esophagus | HGIN | pyrimidine deoxyribonucleotide catabolic process | 8/2587 | 19/18723 | 2.40e-03 | 2.41e-02 | 8 |
GO:0006285 | Esophagus | HGIN | base-excision repair, AP site formation | 6/2587 | 12/18723 | 3.03e-03 | 2.88e-02 | 6 |
GO:00092193 | Esophagus | HGIN | pyrimidine deoxyribonucleotide metabolic process | 9/2587 | 24/18723 | 3.33e-03 | 3.12e-02 | 9 |
GO:00062442 | Esophagus | HGIN | pyrimidine nucleotide catabolic process | 8/2587 | 21/18723 | 5.00e-03 | 4.19e-02 | 8 |
GO:0034655110 | Esophagus | ESCC | nucleobase-containing compound catabolic process | 272/8552 | 407/18723 | 2.92e-18 | 2.90e-16 | 272 |
GO:004670018 | Esophagus | ESCC | heterocycle catabolic process | 286/8552 | 445/18723 | 1.12e-15 | 7.47e-14 | 286 |
GO:004427019 | Esophagus | ESCC | cellular nitrogen compound catabolic process | 288/8552 | 451/18723 | 3.03e-15 | 1.79e-13 | 288 |
GO:001943918 | Esophagus | ESCC | aromatic compound catabolic process | 295/8552 | 467/18723 | 1.09e-14 | 5.98e-13 | 295 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
MBD4 | CFIB | Colorectum | AD | RAP2C-AS1,PXDC1,CNIH4, etc. | 9.59e-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) |
MBD4 | CFIB | Colorectum | CRC | RAP2C-AS1,PXDC1,CNIH4, etc. | 8.60e-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_CRC/regulons_activity_in_dotplot.png) |
MBD4 | PCV | Colorectum | CRC | RAP2C-AS1,PXDC1,CNIH4, etc. | 2.64e-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_CRC/regulons_activity_in_dotplot.png) |
MBD4 | LYMEND | Colorectum | MSS | RAP2C-AS1,PXDC1,CNIH4, etc. | 4.81e-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) |
MBD4 | TRANS | Esophagus | ADJ | CD38,TMEM45A,CNBP, etc. | 3.72e-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/Esophagus/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
MBD4 | MMC | Lung | Healthy | MBD6,ID2,ARL8A, etc. | 1.42e-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/Lung/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
MBD4 | CD8TEREX | Lung | MIAC | CREB3L2,HMGCS1,ANKRD42, etc. | 4.24e-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/Lung/Str/TF_MIAC/regulons_activity_in_dotplot.png) |
MBD4 | END | Oral cavity | OSCC | HMGA1,CYB5R1,TNFSF10, etc. | 1.79e-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) |
MBD4 | STM | Pancreas | ADJ | AL121839.2,AKIP1,RND1, etc. | 9.56e-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/Pancreas/Str/TF_ADJ/regulons_activity_in_dotplot.png) |
MBD4 | DUCT2 | Pancreas | ADJ | AL121839.2,AKIP1,RND1, etc. | 5.29e-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/Pancreas/Str/TF_ADJ/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 |
MBD4 | SNV | Missense_Mutation | novel | c.724N>A | p.Pro242Thr | p.P242T | O95243 | protein_coding | tolerated(0.11) | benign(0.014) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | novel | c.883N>T | p.Ala295Ser | p.A295S | O95243 | protein_coding | tolerated(0.2) | benign(0.127) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | novel | c.631N>T | p.His211Tyr | p.H211Y | O95243 | protein_coding | deleterious(0.03) | benign(0.086) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | novel | c.1637N>A | p.Arg546Gln | p.R546Q | O95243 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | novel | c.730N>C | p.Lys244Gln | p.K244Q | O95243 | protein_coding | deleterious(0.03) | benign(0.054) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | novel | c.593N>C | p.Leu198Ser | p.L198S | O95243 | protein_coding | tolerated(0.12) | benign(0.007) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | | c.1319N>A | p.Pro440His | p.P440H | O95243 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | | c.797C>A | p.Ser266Tyr | p.S266Y | O95243 | protein_coding | tolerated(0.14) | possibly_damaging(0.62) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD4 | SNV | Missense_Mutation | rs370682739 | c.247N>T | p.Arg83Cys | p.R83C | O95243 | protein_coding | tolerated(0.08) | possibly_damaging(0.448) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MBD4 | SNV | Missense_Mutation | | c.404N>A | p.Ser135Tyr | p.S135Y | O95243 | protein_coding | tolerated(0.6) | benign(0.361) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |