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Gene: MMAB |
Gene summary for MMAB |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MMAB | Gene ID | 326625 |
| Gene name | metabolism of cobalamin associated B | |
| Gene Alias | ATR | |
| Cytomap | 12q24.11 | |
| Gene Type | protein-coding | GO ID | GO:0006725 | UniProtAcc | Q96EY8 |
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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 |
| 326625 | MMAB | LZE2T | Human | Esophagus | ESCC | 3.79e-02 | 3.50e-01 | 0.082 |
| 326625 | MMAB | LZE4T | Human | Esophagus | ESCC | 4.70e-05 | 2.15e-01 | 0.0811 |
| 326625 | MMAB | LZE7T | Human | Esophagus | ESCC | 1.56e-05 | 3.96e-01 | 0.0667 |
| 326625 | MMAB | LZE20T | Human | Esophagus | ESCC | 1.13e-03 | 9.91e-02 | 0.0662 |
| 326625 | MMAB | LZE22T | Human | Esophagus | ESCC | 8.01e-06 | 3.75e-01 | 0.068 |
| 326625 | MMAB | LZE24T | Human | Esophagus | ESCC | 5.12e-17 | 5.94e-01 | 0.0596 |
| 326625 | MMAB | LZE21T | Human | Esophagus | ESCC | 5.47e-03 | 1.89e-01 | 0.0655 |
| 326625 | MMAB | LZE6T | Human | Esophagus | ESCC | 2.61e-03 | 1.07e-01 | 0.0845 |
| 326625 | MMAB | P1T-E | Human | Esophagus | ESCC | 8.92e-12 | 6.32e-01 | 0.0875 |
| 326625 | MMAB | P2T-E | Human | Esophagus | ESCC | 2.30e-46 | 1.05e+00 | 0.1177 |
| 326625 | MMAB | P4T-E | Human | Esophagus | ESCC | 8.14e-32 | 9.50e-01 | 0.1323 |
| 326625 | MMAB | P5T-E | Human | Esophagus | ESCC | 3.22e-16 | 4.70e-01 | 0.1327 |
| 326625 | MMAB | P8T-E | Human | Esophagus | ESCC | 3.53e-21 | 4.68e-01 | 0.0889 |
| 326625 | MMAB | P9T-E | Human | Esophagus | ESCC | 2.12e-15 | 3.20e-01 | 0.1131 |
| 326625 | MMAB | P10T-E | Human | Esophagus | ESCC | 3.99e-51 | 9.37e-01 | 0.116 |
| 326625 | MMAB | P11T-E | Human | Esophagus | ESCC | 1.27e-12 | 5.54e-01 | 0.1426 |
| 326625 | MMAB | P12T-E | Human | Esophagus | ESCC | 7.19e-15 | 3.02e-01 | 0.1122 |
| 326625 | MMAB | P15T-E | Human | Esophagus | ESCC | 7.59e-16 | 4.11e-01 | 0.1149 |
| 326625 | MMAB | P16T-E | Human | Esophagus | ESCC | 6.70e-22 | 5.24e-01 | 0.1153 |
| 326625 | MMAB | P17T-E | Human | Esophagus | ESCC | 3.73e-08 | 3.77e-01 | 0.1278 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
| GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
| GO:00330132 | Esophagus | ESCC | tetrapyrrole metabolic process | 37/8552 | 59/18723 | 6.23e-03 | 2.29e-02 | 37 |
| GO:0033013 | Liver | Cirrhotic | tetrapyrrole metabolic process | 24/4634 | 59/18723 | 5.06e-03 | 2.62e-02 | 24 |
| GO:0006767 | Liver | HCC | water-soluble vitamin metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
| GO:00330131 | Liver | HCC | tetrapyrrole metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
| GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-02 | 57 |
| GO:00067672 | Skin | cSCC | water-soluble vitamin metabolic process | 24/4864 | 59/18723 | 9.59e-03 | 4.30e-02 | 24 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
| hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
| hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
| hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
| hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
| hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
| hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
| hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
| hsa0124021 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
| hsa0124031 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
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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 |
| MMAB | SNV | Missense_Mutation | rs771053425 | c.377C>T | p.Ser126Leu | p.S126L | Q96EY8 | protein_coding | deleterious(0) | probably_damaging(0.934) | TCGA-BH-A18L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| MMAB | SNV | Missense_Mutation | c.229C>G | p.Pro77Ala | p.P77A | Q96EY8 | protein_coding | tolerated(0.24) | benign(0.024) | TCGA-E9-A1QZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MMAB | SNV | Missense_Mutation | c.225N>C | p.Arg75Ser | p.R75S | Q96EY8 | protein_coding | deleterious(0) | possibly_damaging(0.62) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| MMAB | SNV | Missense_Mutation | rs200690789 | c.503N>T | p.Thr168Met | p.T168M | Q96EY8 | protein_coding | deleterious(0.02) | possibly_damaging(0.803) | TCGA-AA-3556-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| MMAB | SNV | Missense_Mutation | rs756414548 | c.569N>A | p.Arg190His | p.R190H | Q96EY8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A01V-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| MMAB | SNV | Missense_Mutation | novel | c.743N>G | p.Glu248Gly | p.E248G | Q96EY8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.027) | TCGA-AA-A02W-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| MMAB | SNV | Missense_Mutation | c.717N>T | p.Met239Ile | p.M239I | Q96EY8 | protein_coding | tolerated(0.12) | benign(0) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| MMAB | SNV | Missense_Mutation | rs573706523 | c.370G>A | p.Val124Ile | p.V124I | Q96EY8 | protein_coding | tolerated(0.31) | benign(0.006) | TCGA-4E-A92E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MMAB | SNV | Missense_Mutation | c.531G>T | p.Lys177Asn | p.K177N | Q96EY8 | protein_coding | tolerated(0.15) | benign(0.294) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MMAB | SNV | Missense_Mutation | rs368584846 | c.539N>T | p.Ser180Leu | p.S180L | Q96EY8 | protein_coding | deleterious(0) | possibly_damaging(0.698) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
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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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