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Gene: MYF5 |
Gene summary for MYF5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MYF5 | Gene ID | 4617 |
| Gene name | myogenic factor 5 | |
| Gene Alias | EORVA | |
| Cytomap | 12q21.31 | |
| Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | P13349 |
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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 |
| 4617 | MYF5 | C51 | Human | Oral cavity | OSCC | 1.79e-02 | 7.59e-02 | 0.2674 |
| 4617 | MYF5 | LP16 | Human | Oral cavity | LP | 1.58e-09 | 2.37e+00 | 0.1055 |
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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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:003158917 | Oral cavity | OSCC | cell-substrate adhesion | 193/7305 | 363/18723 | 2.48e-08 | 4.82e-07 | 193 |
| GO:001081019 | Oral cavity | OSCC | regulation of cell-substrate adhesion | 126/7305 | 221/18723 | 4.02e-08 | 7.55e-07 | 126 |
| GO:00107209 | Oral cavity | OSCC | positive regulation of cell development | 159/7305 | 298/18723 | 3.06e-07 | 4.66e-06 | 159 |
| GO:000195215 | Oral cavity | OSCC | regulation of cell-matrix adhesion | 78/7305 | 128/18723 | 4.05e-07 | 6.02e-06 | 78 |
| GO:000716016 | Oral cavity | OSCC | cell-matrix adhesion | 125/7305 | 233/18723 | 3.76e-06 | 4.45e-05 | 125 |
| GO:000150310 | Oral cavity | OSCC | ossification | 203/7305 | 408/18723 | 5.54e-06 | 6.19e-05 | 203 |
| GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
| GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
| GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
| GO:00454453 | Oral cavity | OSCC | myoblast differentiation | 46/7305 | 84/18723 | 2.43e-03 | 1.07e-02 | 46 |
| GO:00605378 | Oral cavity | OSCC | muscle tissue development | 185/7305 | 403/18723 | 2.60e-03 | 1.14e-02 | 185 |
| GO:00426927 | Oral cavity | OSCC | muscle cell differentiation | 175/7305 | 384/18723 | 4.79e-03 | 1.92e-02 | 175 |
| GO:00147067 | Oral cavity | OSCC | striated muscle tissue development | 174/7305 | 384/18723 | 6.45e-03 | 2.40e-02 | 174 |
| GO:004544512 | Oral cavity | LP | myoblast differentiation | 35/4623 | 84/18723 | 4.56e-04 | 4.33e-03 | 35 |
| GO:0045661 | Oral cavity | LP | regulation of myoblast differentiation | 22/4623 | 51/18723 | 2.96e-03 | 2.03e-02 | 22 |
| GO:0010810110 | Oral cavity | LP | regulation of cell-substrate adhesion | 72/4623 | 221/18723 | 4.80e-03 | 3.03e-02 | 72 |
| GO:003158918 | Oral cavity | LP | cell-substrate adhesion | 111/4623 | 363/18723 | 5.94e-03 | 3.53e-02 | 111 |
| GO:001072014 | Oral cavity | LP | positive regulation of cell development | 93/4623 | 298/18723 | 6.07e-03 | 3.60e-02 | 93 |
| GO:000150315 | Oral cavity | LP | ossification | 123/4623 | 408/18723 | 6.55e-03 | 3.84e-02 | 123 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
| MYF5 | SNV | Missense_Mutation | novel | c.374N>T | p.Arg125Met | p.R125M | P13349 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MYF5 | SNV | Missense_Mutation | c.212C>A | p.Ala71Asp | p.A71D | P13349 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.284G>A | p.Arg95His | p.R95H | P13349 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| MYF5 | SNV | Missense_Mutation | c.263C>T | p.Ala88Val | p.A88V | P13349 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.233A>G | p.Lys78Arg | p.K78R | P13349 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.253N>T | p.Arg85Trp | p.R85W | P13349 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A01V-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.445N>T | p.Pro149Ser | p.P149S | P13349 | protein_coding | tolerated(0.25) | possibly_damaging(0.57) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.385N>T | p.Arg129Cys | p.R129C | P13349 | protein_coding | deleterious(0.02) | possibly_damaging(0.877) | TCGA-CK-6751-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.284G>A | p.Arg95His | p.R95H | P13349 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D5-6930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| MYF5 | SNV | Missense_Mutation | c.278G>A | p.Arg93Gln | p.R93Q | P13349 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | 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 |
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