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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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
| GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
| GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
| GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
| GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
| GO:0051168110 | Esophagus | ESCC | nuclear export | 126/8552 | 154/18723 | 1.88e-20 | 2.65e-18 | 126 |
| GO:001820514 | Esophagus | ESCC | peptidyl-lysine modification | 259/8552 | 376/18723 | 3.90e-20 | 5.26e-18 | 259 |
| GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
| GO:1903050111 | Esophagus | ESCC | regulation of proteolysis involved in cellular protein catabolic process | 163/8552 | 221/18723 | 1.44e-17 | 1.27e-15 | 163 |
| GO:0061136111 | Esophagus | ESCC | regulation of proteasomal protein catabolic process | 142/8552 | 187/18723 | 2.40e-17 | 2.00e-15 | 142 |
| GO:0032434111 | Esophagus | ESCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 107/8552 | 134/18723 | 4.06e-16 | 2.93e-14 | 107 |
| GO:2000058111 | Esophagus | ESCC | regulation of ubiquitin-dependent protein catabolic process | 125/8552 | 164/18723 | 1.17e-15 | 7.76e-14 | 125 |
| GO:000661117 | Esophagus | ESCC | protein export from nucleus | 48/8552 | 57/18723 | 1.92e-09 | 4.39e-08 | 48 |
| GO:007064612 | Esophagus | ESCC | protein modification by small protein removal | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
| GO:00165793 | Esophagus | ESCC | protein deubiquitination | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
| GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
| GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
| GO:004217622 | Liver | HCC | regulation of protein catabolic process | 267/7958 | 391/18723 | 2.45e-25 | 7.38e-23 | 267 |
| GO:000691322 | Liver | HCC | nucleocytoplasmic transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
| GO:005116922 | Liver | HCC | nuclear transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
| 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 |
| Page: 1 |
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