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Gene: MBD2 |
Gene summary for MBD2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MBD2 | Gene ID | 8932 |
| Gene name | methyl-CpG binding domain protein 2 | |
| Gene Alias | DMTase | |
| Cytomap | 18q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q9UBB5 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 8932 | MBD2 | 047563_1562-all-cells | Human | Prostate | BPH | 3.09e-07 | 3.05e-01 | 0.0791 |
| 8932 | MBD2 | 048752_1579-all-cells | Human | Prostate | BPH | 5.96e-21 | 5.01e-01 | 0.1008 |
| 8932 | MBD2 | 052095_1628-all-cells | Human | Prostate | BPH | 9.86e-10 | 4.28e-01 | 0.1032 |
| 8932 | MBD2 | 052097_1595-all-cells | Human | Prostate | BPH | 1.39e-26 | 5.98e-01 | 0.0972 |
| 8932 | MBD2 | 052099_1652-all-cells | Human | Prostate | BPH | 1.01e-15 | 4.94e-01 | 0.1038 |
| 8932 | MBD2 | Dong_P1 | Human | Prostate | Tumor | 7.38e-24 | 1.16e-01 | 0.035 |
| 8932 | MBD2 | Dong_P3 | Human | Prostate | Tumor | 1.06e-08 | 9.40e-02 | 0.0278 |
| 8932 | MBD2 | Dong_P5 | Human | Prostate | Tumor | 1.45e-16 | -8.02e-02 | 0.053 |
| 8932 | MBD2 | GSM5353216_PA_PB1A_Pool_1_3_S50_L002 | Human | Prostate | Tumor | 1.83e-02 | 5.17e-01 | 0.159 |
| 8932 | MBD2 | GSM5353224_PA_PR5186_Pool_1_2_3_S27_L001 | Human | Prostate | Tumor | 1.76e-04 | 4.78e-01 | 0.1621 |
| 8932 | MBD2 | GSM5353227_PA_PR5199-193K_Pool_1_2_3_S55_L002 | Human | Prostate | Tumor | 4.71e-03 | 3.11e-01 | 0.1602 |
| 8932 | MBD2 | GSM5353240_PA_PR5254_T1_S15_L001 | Human | Prostate | Tumor | 1.45e-07 | 3.95e-01 | 0.1575 |
| 8932 | MBD2 | P1_S1_AK | Human | Skin | AK | 4.97e-26 | 6.54e-01 | -0.3399 |
| 8932 | MBD2 | P2_S3_AK | Human | Skin | AK | 1.43e-25 | 6.19e-01 | -0.3287 |
| 8932 | MBD2 | P2_S4_SCCIS | Human | Skin | SCCIS | 6.91e-06 | 3.80e-01 | -0.3043 |
| 8932 | MBD2 | P3_S6_AK | Human | Skin | AK | 1.85e-08 | 4.55e-01 | -0.3256 |
| 8932 | MBD2 | P4_S8_cSCC | Human | Skin | cSCC | 2.49e-26 | 5.77e-01 | -0.3095 |
| 8932 | MBD2 | P5_S10_cSCC | Human | Skin | cSCC | 3.01e-39 | 6.79e-01 | -0.299 |
| 8932 | MBD2 | P1_cSCC | Human | Skin | cSCC | 9.58e-23 | 8.08e-01 | 0.0292 |
| 8932 | MBD2 | P2_cSCC | Human | Skin | cSCC | 3.03e-12 | 4.08e-01 | -0.024 |
| Page: 1 2 3 4 5 6 7 8 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| 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 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 | deletion | Frame_Shift_Del | novel | c.904delN | p.Thr302ProfsTer86 | p.T302Pfs*86 | Q9UBB5 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| MBD2 | SNV | Missense_Mutation | rs780879642 | c.1207N>G | p.Ile403Val | p.I403V | Q9UBB5 | protein_coding | tolerated_low_confidence(0.15) | benign(0) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| MBD2 | SNV | Missense_Mutation | novel | c.530N>C | p.Val177Ala | p.V177A | Q9UBB5 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| MBD2 | SNV | Missense_Mutation | rs745860253 | c.677N>A | p.Arg226Gln | p.R226Q | Q9UBB5 | protein_coding | tolerated(0.18) | benign(0.372) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MBD2 | SNV | Missense_Mutation | novel | c.836N>A | p.Arg279His | p.R279H | Q9UBB5 | protein_coding | tolerated(0.08) | benign(0.16) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| MBD2 | SNV | Missense_Mutation | c.1190N>G | p.Asp397Gly | p.D397G | Q9UBB5 | protein_coding | deleterious_low_confidence(0.02) | benign(0.374) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MBD2 | SNV | Missense_Mutation | novel | c.781N>C | p.Asn261His | p.N261H | Q9UBB5 | protein_coding | deleterious(0.03) | benign(0.41) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MBD2 | SNV | Missense_Mutation | novel | c.1201A>C | p.Met401Leu | p.M401L | Q9UBB5 | protein_coding | tolerated_low_confidence(0.26) | benign(0) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| MBD2 | SNV | Missense_Mutation | novel | c.1081N>T | p.Ala361Ser | p.A361S | Q9UBB5 | protein_coding | tolerated(0.09) | benign(0.326) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
| MBD2 | SNV | Missense_Mutation | rs745860253 | c.677G>A | p.Arg226Gln | p.R226Q | Q9UBB5 | protein_coding | tolerated(0.18) | benign(0.372) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
| Page: 1 2 3 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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