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Gene: DES |
Gene summary for DES |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DES | Gene ID | 1674 |
| Gene name | desmin | |
| Gene Alias | CDCD3 | |
| Cytomap | 2q35 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | P17661 |
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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 |
| 1674 | DES | C43 | Human | Oral cavity | OSCC | 1.66e-02 | -3.23e-01 | 0.1704 |
| 1674 | DES | C07 | Human | Oral cavity | OSCC | 5.87e-04 | 1.71e+00 | 0.2491 |
| 1674 | DES | C08 | Human | Oral cavity | OSCC | 3.50e-02 | -3.23e-01 | 0.1919 |
| 1674 | DES | EOLP-1 | Human | Oral cavity | EOLP | 8.17e-04 | -1.51e-01 | -0.0202 |
| 1674 | DES | EOLP-2 | Human | Oral cavity | EOLP | 2.99e-02 | -2.42e-01 | -0.0203 |
| 1674 | DES | NEOLP-2 | Human | Oral cavity | NEOLP | 1.16e-02 | -1.74e-01 | -0.0196 |
| 1674 | DES | SYSMH1 | Human | Oral cavity | OSCC | 3.50e-02 | -3.23e-01 | 0.1127 |
| 1674 | DES | SYSMH3 | Human | Oral cavity | OSCC | 3.66e-13 | 2.30e-01 | 0.2442 |
| 1674 | DES | SYSMH4 | Human | Oral cavity | OSCC | 1.66e-02 | -3.22e-01 | 0.1226 |
| 1674 | DES | SYSMH5 | Human | Oral cavity | OSCC | 7.21e-03 | 2.76e+00 | 0.0647 |
| 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:190336235 | Thyroid | ATC | regulation of cellular protein catabolic process | 168/6293 | 255/18723 | 3.50e-26 | 1.58e-23 | 168 |
| GO:190305035 | Thyroid | ATC | regulation of proteolysis involved in cellular protein catabolic process | 146/6293 | 221/18723 | 4.18e-23 | 1.20e-20 | 146 |
| GO:006113633 | Thyroid | ATC | regulation of proteasomal protein catabolic process | 128/6293 | 187/18723 | 1.63e-22 | 4.30e-20 | 128 |
| GO:2000058210 | Thyroid | ATC | regulation of ubiquitin-dependent protein catabolic process | 116/6293 | 164/18723 | 2.15e-22 | 5.43e-20 | 116 |
| GO:0032434210 | Thyroid | ATC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 100/6293 | 134/18723 | 2.41e-22 | 5.86e-20 | 100 |
| GO:000691326 | Thyroid | ATC | nucleocytoplasmic transport | 180/6293 | 301/18723 | 6.97e-21 | 1.30e-18 | 180 |
| GO:005116926 | Thyroid | ATC | nuclear transport | 180/6293 | 301/18723 | 6.97e-21 | 1.30e-18 | 180 |
| GO:005116833 | Thyroid | ATC | nuclear export | 100/6293 | 154/18723 | 1.63e-15 | 1.20e-13 | 100 |
| GO:001820516 | Thyroid | ATC | peptidyl-lysine modification | 193/6293 | 376/18723 | 6.92e-13 | 3.06e-11 | 193 |
| GO:000661132 | Thyroid | ATC | protein export from nucleus | 41/6293 | 57/18723 | 3.70e-09 | 8.52e-08 | 41 |
| GO:007064613 | Thyroid | ATC | protein modification by small protein removal | 71/6293 | 157/18723 | 1.59e-03 | 7.99e-03 | 71 |
| GO:007053611 | Thyroid | ATC | protein K63-linked deubiquitination | 20/6293 | 35/18723 | 3.56e-03 | 1.57e-02 | 20 |
| Page: 1 2 3 4 5 6 |
| 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 |
| DES | SNV | Missense_Mutation | novel | c.1398N>T | p.Gln466His | p.Q466H | P17661 | protein_coding | tolerated(1) | benign(0.019) | TCGA-A7-A3J1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrazole | SD |
| DES | SNV | Missense_Mutation | rs367961979 | c.665N>A | p.Arg222His | p.R222H | P17661 | protein_coding | deleterious(0.02) | benign(0.375) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
| DES | SNV | Missense_Mutation | rs57965306 | c.1049N>A | p.Arg350Gln | p.R350Q | P17661 | protein_coding | tolerated(0.09) | possibly_damaging(0.655) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| DES | SNV | Missense_Mutation | rs770258461 | c.817N>A | p.Ala273Thr | p.A273T | P17661 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| DES | SNV | Missense_Mutation | rs747571500 | c.1042C>A | p.Gln348Lys | p.Q348K | P17661 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-A6-4105-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| DES | SNV | Missense_Mutation | c.122N>T | p.Gly41Val | p.G41V | P17661 | protein_coding | tolerated(0.41) | possibly_damaging(0.874) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| DES | SNV | Missense_Mutation | rs374687448 | c.664C>T | p.Arg222Cys | p.R222C | P17661 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| DES | SNV | Missense_Mutation | rs374144840 | c.710N>T | p.Ala237Val | p.A237V | P17661 | protein_coding | tolerated(0.2) | possibly_damaging(0.498) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
| DES | SNV | Missense_Mutation | c.781G>T | p.Val261Leu | p.V261L | P17661 | protein_coding | deleterious(0.02) | benign(0.05) | TCGA-AD-A5EK-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| DES | SNV | Missense_Mutation | c.259N>A | p.Glu87Lys | p.E87K | P17661 | protein_coding | tolerated(0.07) | probably_damaging(0.933) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD |
| Page: 1 2 3 4 5 6 |
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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 |
| 1674 | DES | NA | TPA | ALTEPLASE | 7507197 | |
| 1674 | DES | NA | THROMBIN | THROMBIN | 3040412 |
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