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Gene: MAD2L1BP |
Gene summary for MAD2L1BP |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MAD2L1BP | Gene ID | 9587 |
| Gene name | MAD2L1 binding protein | |
| Gene Alias | CMT2 | |
| Cytomap | 6p21.1 | |
| Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q15013 |
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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 |
| 9587 | MAD2L1BP | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.23e-06 | 3.38e-01 | -0.1808 |
| 9587 | MAD2L1BP | HTA11_78_2000001011 | Human | Colorectum | AD | 9.51e-03 | 2.24e-01 | -0.1088 |
| 9587 | MAD2L1BP | HTA11_347_2000001011 | Human | Colorectum | AD | 3.84e-05 | 1.91e-01 | -0.1954 |
| 9587 | MAD2L1BP | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.24e-02 | 2.28e-01 | -0.1207 |
| 9587 | MAD2L1BP | HTA11_83_2000001011 | Human | Colorectum | SER | 4.03e-02 | 2.27e-01 | -0.1526 |
| 9587 | MAD2L1BP | HTA11_696_2000001011 | Human | Colorectum | AD | 3.32e-08 | 2.54e-01 | -0.1464 |
| 9587 | MAD2L1BP | HTA11_866_2000001011 | Human | Colorectum | AD | 1.90e-02 | 1.34e-01 | -0.1001 |
| 9587 | MAD2L1BP | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.21e-10 | 3.81e-01 | -0.059 |
| 9587 | MAD2L1BP | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.44e-04 | 4.67e-01 | -0.1706 |
| 9587 | MAD2L1BP | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.17e-02 | 2.69e-01 | -0.0179 |
| 9587 | MAD2L1BP | HTA11_866_3004761011 | Human | Colorectum | AD | 5.72e-09 | 3.06e-01 | 0.096 |
| 9587 | MAD2L1BP | HTA11_7663_2000001011 | Human | Colorectum | SER | 3.12e-03 | 3.41e-01 | 0.0131 |
| 9587 | MAD2L1BP | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.29e-07 | 2.02e-01 | 0.0674 |
| 9587 | MAD2L1BP | HTA11_6818_2000001021 | Human | Colorectum | AD | 1.03e-02 | 2.12e-01 | 0.0588 |
| 9587 | MAD2L1BP | HTA11_99999970781_79442 | Human | Colorectum | MSS | 5.97e-14 | 3.99e-01 | 0.294 |
| 9587 | MAD2L1BP | HTA11_99999965104_69814 | Human | Colorectum | MSS | 6.18e-08 | 3.22e-01 | 0.281 |
| 9587 | MAD2L1BP | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.29e-07 | 2.22e-01 | 0.3859 |
| 9587 | MAD2L1BP | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.26e-02 | 2.23e-01 | 0.2585 |
| 9587 | MAD2L1BP | HTA11_99999974143_84620 | Human | Colorectum | MSS | 9.04e-03 | 1.15e-01 | 0.3005 |
| 9587 | MAD2L1BP | LZE2T | Human | Esophagus | ESCC | 1.12e-02 | 8.58e-01 | 0.082 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
| GO:2001252 | Colorectum | AD | positive regulation of chromosome organization | 35/3918 | 82/18723 | 6.90e-06 | 1.72e-04 | 35 |
| GO:0033044 | Colorectum | AD | regulation of chromosome organization | 60/3918 | 187/18723 | 2.25e-04 | 2.94e-03 | 60 |
| GO:0007346 | Colorectum | AD | regulation of mitotic cell cycle | 119/3918 | 457/18723 | 4.60e-03 | 3.14e-02 | 119 |
| GO:0045787 | Colorectum | AD | positive regulation of cell cycle | 85/3918 | 313/18723 | 4.76e-03 | 3.22e-02 | 85 |
| GO:0045842 | Colorectum | AD | positive regulation of mitotic metaphase/anaphase transition | 8/3918 | 15/18723 | 5.67e-03 | 3.64e-02 | 8 |
| GO:1901970 | Colorectum | AD | positive regulation of mitotic sister chromatid separation | 8/3918 | 15/18723 | 5.67e-03 | 3.64e-02 | 8 |
| GO:1905820 | Colorectum | AD | positive regulation of chromosome separation | 9/3918 | 18/18723 | 5.82e-03 | 3.67e-02 | 9 |
| GO:0140014 | Colorectum | AD | mitotic nuclear division | 78/3918 | 287/18723 | 6.48e-03 | 4.05e-02 | 78 |
| GO:0045931 | Colorectum | AD | positive regulation of mitotic cell cycle | 37/3918 | 121/18723 | 7.88e-03 | 4.73e-02 | 37 |
| GO:00106391 | Colorectum | SER | negative regulation of organelle organization | 90/2897 | 348/18723 | 3.14e-07 | 1.69e-05 | 90 |
| GO:20012521 | Colorectum | SER | positive regulation of chromosome organization | 27/2897 | 82/18723 | 6.44e-05 | 1.49e-03 | 27 |
| GO:00106392 | Colorectum | MSS | negative regulation of organelle organization | 102/3467 | 348/18723 | 5.36e-07 | 2.05e-05 | 102 |
| GO:20012522 | Colorectum | MSS | positive regulation of chromosome organization | 33/3467 | 82/18723 | 3.72e-06 | 1.07e-04 | 33 |
| GO:00330441 | Colorectum | MSS | regulation of chromosome organization | 55/3467 | 187/18723 | 1.86e-04 | 2.63e-03 | 55 |
| GO:00457871 | Colorectum | MSS | positive regulation of cell cycle | 80/3467 | 313/18723 | 1.15e-03 | 1.12e-02 | 80 |
| GO:00073461 | Colorectum | MSS | regulation of mitotic cell cycle | 108/3467 | 457/18723 | 3.30e-03 | 2.50e-02 | 108 |
| GO:0090068 | Colorectum | MSS | positive regulation of cell cycle process | 60/3467 | 236/18723 | 5.01e-03 | 3.46e-02 | 60 |
| GO:01400141 | Colorectum | MSS | mitotic nuclear division | 70/3467 | 287/18723 | 7.48e-03 | 4.72e-02 | 70 |
| GO:014001414 | Esophagus | ESCC | mitotic nuclear division | 218/8552 | 287/18723 | 6.17e-26 | 1.78e-23 | 218 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
| hsa0411033 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
| hsa041104 | Liver | Cirrhotic | Cell cycle | 61/2530 | 157/8465 | 9.53e-03 | 3.21e-02 | 1.98e-02 | 61 |
| hsa0411011 | Liver | Cirrhotic | Cell cycle | 61/2530 | 157/8465 | 9.53e-03 | 3.21e-02 | 1.98e-02 | 61 |
| hsa041102 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
| hsa041103 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
| hsa041108 | Oral cavity | OSCC | Cell cycle | 118/3704 | 157/8465 | 7.15e-16 | 2.66e-14 | 1.35e-14 | 118 |
| hsa0411015 | Oral cavity | OSCC | Cell cycle | 118/3704 | 157/8465 | 7.15e-16 | 2.66e-14 | 1.35e-14 | 118 |
| hsa0411022 | Oral cavity | LP | Cell cycle | 70/2418 | 157/8465 | 1.17e-05 | 8.27e-05 | 5.33e-05 | 70 |
| hsa0411032 | Oral cavity | LP | Cell cycle | 70/2418 | 157/8465 | 1.17e-05 | 8.27e-05 | 5.33e-05 | 70 |
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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 |
| MAD2L1BP | SNV | Missense_Mutation | c.633G>C | p.Gln211His | p.Q211H | Q15013 | protein_coding | deleterious(0.04) | possibly_damaging(0.766) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| MAD2L1BP | SNV | Missense_Mutation | c.199N>C | p.Glu67Gln | p.E67Q | Q15013 | protein_coding | deleterious_low_confidence(0.05) | benign(0.346) | TCGA-EW-A1IX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | femara | SD | |
| MAD2L1BP | insertion | In_Frame_Ins | novel | c.569_570insGTCAGCACTTGGTATTCAGCT | p.Ala190_Leu191insSerAlaLeuGlyIleGlnLeu | p.A190_L191insSALGIQL | Q15013 | protein_coding | TCGA-AO-A0JF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD | ||
| MAD2L1BP | insertion | Frame_Shift_Ins | novel | c.885_886insGTTCTAAATGTGGGAGAATTATGGTTTTGTA | p.Gln296ValfsTer17 | p.Q296Vfs*17 | Q15013 | protein_coding | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| MAD2L1BP | SNV | Missense_Mutation | novel | c.607C>G | p.Leu203Val | p.L203V | Q15013 | protein_coding | tolerated(0.38) | benign(0.072) | TCGA-AA-3941-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MAD2L1BP | SNV | Missense_Mutation | c.725N>A | p.Gly242Asp | p.G242D | Q15013 | protein_coding | tolerated(0.08) | benign(0.376) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| MAD2L1BP | deletion | In_Frame_Del | c.400_402delTCT | p.Ser134del | p.S134del | Q15013 | protein_coding | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD | |||
| MAD2L1BP | SNV | Missense_Mutation | novel | c.415N>A | p.Glu139Lys | p.E139K | Q15013 | protein_coding | deleterious(0.04) | benign(0.136) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| MAD2L1BP | SNV | Missense_Mutation | novel | c.557N>G | p.Leu186Arg | p.L186R | Q15013 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| MAD2L1BP | SNV | Missense_Mutation | rs756338268 | c.661N>T | p.Arg221Cys | p.R221C | Q15013 | protein_coding | deleterious(0.01) | benign(0.013) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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 |
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