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Gene: MUSTN1 |
Gene summary for MUSTN1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MUSTN1 | Gene ID | 389125 |
| Gene name | musculoskeletal, embryonic nuclear protein 1 | |
| Gene Alias | MUSTANG | |
| Cytomap | 3p21.1 | |
| Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q8IVN3 |
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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 |
| 389125 | MUSTN1 | C04 | Human | Oral cavity | OSCC | 1.49e-04 | -7.64e-01 | 0.2633 |
| 389125 | MUSTN1 | C21 | Human | Oral cavity | OSCC | 1.90e-09 | -7.64e-01 | 0.2678 |
| 389125 | MUSTN1 | C30 | Human | Oral cavity | OSCC | 6.35e-04 | -7.64e-01 | 0.3055 |
| 389125 | MUSTN1 | C43 | Human | Oral cavity | OSCC | 2.59e-20 | -7.64e-01 | 0.1704 |
| 389125 | MUSTN1 | C46 | Human | Oral cavity | OSCC | 2.57e-16 | -7.64e-01 | 0.1673 |
| 389125 | MUSTN1 | C51 | Human | Oral cavity | OSCC | 6.35e-04 | -7.64e-01 | 0.2674 |
| 389125 | MUSTN1 | C57 | Human | Oral cavity | OSCC | 4.70e-11 | -7.64e-01 | 0.1679 |
| 389125 | MUSTN1 | C08 | Human | Oral cavity | OSCC | 2.59e-20 | -7.64e-01 | 0.1919 |
| 389125 | MUSTN1 | C09 | Human | Oral cavity | OSCC | 3.60e-12 | -7.64e-01 | 0.1431 |
| 389125 | MUSTN1 | LN46 | Human | Oral cavity | OSCC | 4.20e-07 | -7.64e-01 | 0.1666 |
| 389125 | MUSTN1 | EOLP-1 | Human | Oral cavity | EOLP | 9.49e-12 | -3.93e-01 | -0.0202 |
| 389125 | MUSTN1 | NEOLP-1 | Human | Oral cavity | NEOLP | 1.87e-06 | -5.08e-01 | -0.0194 |
| 389125 | MUSTN1 | SYSMH1 | Human | Oral cavity | OSCC | 1.11e-20 | -7.64e-01 | 0.1127 |
| 389125 | MUSTN1 | SYSMH2 | Human | Oral cavity | OSCC | 2.05e-21 | -7.64e-01 | 0.2326 |
| 389125 | MUSTN1 | SYSMH3 | Human | Oral cavity | OSCC | 2.59e-20 | -7.64e-01 | 0.2442 |
| 389125 | MUSTN1 | SYSMH4 | Human | Oral cavity | OSCC | 2.05e-21 | -7.64e-01 | 0.1226 |
| 389125 | MUSTN1 | SYSMH5 | Human | Oral cavity | OSCC | 1.11e-20 | -7.64e-01 | 0.0647 |
| 389125 | MUSTN1 | SYSMH6 | Human | Oral cavity | OSCC | 2.49e-23 | -7.61e-01 | 0.1275 |
| Page: 1 |
| 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:004206020 | Oral cavity | OSCC | wound healing | 237/7305 | 422/18723 | 4.51e-13 | 2.18e-11 | 237 |
| GO:00310999 | Oral cavity | OSCC | regeneration | 114/7305 | 198/18723 | 8.54e-08 | 1.50e-06 | 114 |
| GO:00091001 | Oral cavity | OSCC | glycoprotein metabolic process | 185/7305 | 387/18723 | 2.37e-04 | 1.54e-03 | 185 |
| GO:00422464 | Oral cavity | OSCC | tissue regeneration | 42/7305 | 72/18723 | 6.89e-04 | 3.84e-03 | 42 |
| GO:00091011 | Oral cavity | OSCC | glycoprotein biosynthetic process | 151/7305 | 317/18723 | 1.01e-03 | 5.26e-03 | 151 |
| GO:004206026 | Oral cavity | EOLP | wound healing | 99/2218 | 422/18723 | 1.18e-11 | 1.85e-09 | 99 |
| GO:003109923 | Oral cavity | EOLP | regeneration | 50/2218 | 198/18723 | 1.30e-07 | 4.25e-06 | 50 |
| GO:00422462 | Oral cavity | EOLP | tissue regeneration | 22/2218 | 72/18723 | 1.82e-05 | 2.91e-04 | 22 |
| GO:00020622 | Oral cavity | EOLP | chondrocyte differentiation | 22/2218 | 106/18723 | 5.93e-03 | 2.98e-02 | 22 |
| GO:004206033 | Oral cavity | NEOLP | wound healing | 106/2005 | 422/18723 | 1.93e-17 | 1.91e-14 | 106 |
| GO:003109931 | Oral cavity | NEOLP | regeneration | 45/2005 | 198/18723 | 7.52e-07 | 2.10e-05 | 45 |
| GO:00614482 | Oral cavity | NEOLP | connective tissue development | 46/2005 | 252/18723 | 2.11e-04 | 2.25e-03 | 46 |
| GO:00422463 | Oral cavity | NEOLP | tissue regeneration | 18/2005 | 72/18723 | 4.55e-04 | 4.08e-03 | 18 |
| GO:00020621 | Oral cavity | NEOLP | chondrocyte differentiation | 22/2005 | 106/18723 | 1.72e-03 | 1.19e-02 | 22 |
| GO:0051216 | Oral cavity | NEOLP | cartilage development | 32/2005 | 190/18723 | 6.44e-03 | 3.32e-02 | 32 |
| Page: 1 |
| 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 |
| MUSTN1 | SNV | Missense_Mutation | c.167N>T | p.Ser56Leu | p.S56L | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.99) | TCGA-B6-A1KC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MUSTN1 | SNV | Missense_Mutation | rs758008149 | c.160N>A | p.Ala54Thr | p.A54T | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-S3-A6ZG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
| MUSTN1 | SNV | Missense_Mutation | novel | c.28N>A | p.Pro10Thr | p.P10T | Q8IVN3 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.998) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MUSTN1 | SNV | Missense_Mutation | novel | c.77N>T | p.Ala26Val | p.A26V | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MUSTN1 | SNV | Missense_Mutation | novel | c.68T>G | p.Leu23Arg | p.L23R | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| MUSTN1 | SNV | Missense_Mutation | rs199676398 | c.155C>T | p.Ser52Leu | p.S52L | Q8IVN3 | protein_coding | tolerated_low_confidence(0.42) | benign(0.007) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MUSTN1 | SNV | Missense_Mutation | c.11C>T | p.Ala4Val | p.A4V | Q8IVN3 | protein_coding | tolerated_low_confidence(0.22) | benign(0.04) | TCGA-D1-A17A-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MUSTN1 | SNV | Missense_Mutation | novel | c.200N>T | p.Thr67Ile | p.T67I | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| MUSTN1 | deletion | Frame_Shift_Del | novel | c.50delN | p.Pro17LeufsTer2 | p.P17Lfs*2 | Q8IVN3 | protein_coding | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| MUSTN1 | SNV | Missense_Mutation | c.80G>T | p.Arg27Leu | p.R27L | Q8IVN3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.736) | TCGA-EJ-5516-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | 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 |
| Page: 1 |
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