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Gene: MTMR1 |
Gene summary for MTMR1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MTMR1 | Gene ID | 8776 |
| Gene name | myotubularin related protein 1 | |
| Gene Alias | MTMR1 | |
| Cytomap | Xq28 | |
| Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | F8WA39 |
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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 |
| 8776 | MTMR1 | C21 | Human | Oral cavity | OSCC | 1.60e-24 | 6.50e-01 | 0.2678 |
| 8776 | MTMR1 | C30 | Human | Oral cavity | OSCC | 4.05e-10 | 5.40e-01 | 0.3055 |
| 8776 | MTMR1 | C38 | Human | Oral cavity | OSCC | 2.51e-02 | 5.57e-01 | 0.172 |
| 8776 | MTMR1 | C43 | Human | Oral cavity | OSCC | 2.66e-17 | 3.45e-01 | 0.1704 |
| 8776 | MTMR1 | C46 | Human | Oral cavity | OSCC | 1.05e-04 | 2.36e-01 | 0.1673 |
| 8776 | MTMR1 | C08 | Human | Oral cavity | OSCC | 4.23e-09 | 2.44e-01 | 0.1919 |
| 8776 | MTMR1 | LN46 | Human | Oral cavity | OSCC | 2.02e-04 | 2.31e-01 | 0.1666 |
| 8776 | MTMR1 | EOLP-1 | Human | Oral cavity | EOLP | 2.01e-06 | 2.01e-01 | -0.0202 |
| 8776 | MTMR1 | SYSMH1 | Human | Oral cavity | OSCC | 1.20e-03 | 1.25e-01 | 0.1127 |
| 8776 | MTMR1 | SYSMH2 | Human | Oral cavity | OSCC | 1.57e-02 | 1.25e-01 | 0.2326 |
| 8776 | MTMR1 | SYSMH3 | Human | Oral cavity | OSCC | 1.14e-03 | 1.13e-01 | 0.2442 |
| 8776 | MTMR1 | SYSMH6 | Human | Oral cavity | OSCC | 3.22e-02 | 2.21e-02 | 0.1275 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:004647411 | Liver | HCC | glycerophospholipid biosynthetic process | 121/7958 | 211/18723 | 9.12e-06 | 1.06e-04 | 121 |
| GO:0006661 | Liver | HCC | phosphatidylinositol biosynthetic process | 69/7958 | 131/18723 | 1.19e-02 | 4.35e-02 | 69 |
| GO:001623610 | Oral cavity | OSCC | macroautophagy | 192/7305 | 291/18723 | 7.01e-21 | 1.14e-18 | 192 |
| GO:000647015 | Oral cavity | OSCC | protein dephosphorylation | 162/7305 | 281/18723 | 1.56e-10 | 4.56e-09 | 162 |
| GO:00163119 | Oral cavity | OSCC | dephosphorylation | 220/7305 | 417/18723 | 6.33e-09 | 1.34e-07 | 220 |
| GO:003530319 | Oral cavity | OSCC | regulation of dephosphorylation | 80/7305 | 128/18723 | 6.10e-08 | 1.10e-06 | 80 |
| GO:00086543 | Oral cavity | OSCC | phospholipid biosynthetic process | 130/7305 | 253/18723 | 3.96e-05 | 3.46e-04 | 130 |
| GO:00192167 | Oral cavity | OSCC | regulation of lipid metabolic process | 154/7305 | 331/18723 | 3.00e-03 | 1.30e-02 | 154 |
| GO:00464743 | Oral cavity | OSCC | glycerophospholipid biosynthetic process | 102/7305 | 211/18723 | 3.50e-03 | 1.48e-02 | 102 |
| GO:00066445 | Oral cavity | OSCC | phospholipid metabolic process | 175/7305 | 383/18723 | 4.21e-03 | 1.71e-02 | 175 |
| GO:000647023 | Oral cavity | EOLP | protein dephosphorylation | 72/2218 | 281/18723 | 1.19e-10 | 1.35e-08 | 72 |
| GO:003530322 | Oral cavity | EOLP | regulation of dephosphorylation | 39/2218 | 128/18723 | 1.39e-08 | 6.43e-07 | 39 |
| GO:001623622 | Oral cavity | EOLP | macroautophagy | 65/2218 | 291/18723 | 2.74e-07 | 8.26e-06 | 65 |
| GO:001631114 | Oral cavity | EOLP | dephosphorylation | 85/2218 | 417/18723 | 3.19e-07 | 9.47e-06 | 85 |
| GO:001921614 | Oral cavity | EOLP | regulation of lipid metabolic process | 54/2218 | 331/18723 | 9.09e-03 | 4.15e-02 | 54 |
| GO:001631116 | Thyroid | PTC | dephosphorylation | 174/5968 | 417/18723 | 1.20e-05 | 1.31e-04 | 174 |
| GO:19019989 | Thyroid | PTC | toxin transport | 21/5968 | 40/18723 | 5.37e-03 | 2.47e-02 | 21 |
| GO:001631117 | Thyroid | ATC | dephosphorylation | 179/6293 | 417/18723 | 3.88e-05 | 3.15e-04 | 179 |
| GO:190199813 | Thyroid | ATC | toxin transport | 25/6293 | 40/18723 | 1.72e-04 | 1.17e-03 | 25 |
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| 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 |
| MTMR1 | SNV | Missense_Mutation | novel | c.1256N>G | p.Glu419Gly | p.E419G | protein_coding | deleterious(0.01) | benign(0.196) | TCGA-B6-A0WV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MTMR1 | SNV | Missense_Mutation | c.1306N>C | p.Glu436Gln | p.E436Q | protein_coding | deleterious(0.01) | benign(0.315) | TCGA-C8-A26V-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | CR | ||
| MTMR1 | SNV | Missense_Mutation | novel | c.1189N>C | p.Glu397Gln | p.E397Q | protein_coding | deleterious(0.01) | benign(0.101) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
| MTMR1 | SNV | Missense_Mutation | novel | c.1674C>G | p.Phe558Leu | p.F558L | protein_coding | tolerated(0.52) | benign(0) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
| MTMR1 | SNV | Missense_Mutation | c.1322N>T | p.Ser441Phe | p.S441F | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
| MTMR1 | SNV | Missense_Mutation | novel | c.640C>A | p.Pro214Thr | p.P214T | protein_coding | deleterious(0) | possibly_damaging(0.862) | TCGA-VS-A8Q9-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MTMR1 | SNV | Missense_Mutation | c.926N>T | p.Thr309Met | p.T309M | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| MTMR1 | SNV | Missense_Mutation | c.1066N>A | p.Ala356Thr | p.A356T | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AA-3848-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | ||
| MTMR1 | SNV | Missense_Mutation | c.1801N>A | p.His601Asn | p.H601N | protein_coding | tolerated(0.07) | benign(0.007) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
| MTMR1 | SNV | Missense_Mutation | c.737N>T | p.Arg246Ile | p.R246I | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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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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