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Gene: DES |
Gene summary for DES |
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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 |
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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 |
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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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:200005820 | Oral cavity | OSCC | regulation of ubiquitin-dependent protein catabolic process | 118/7305 | 164/18723 | 9.37e-18 | 9.27e-16 | 118 |
GO:005116817 | Oral cavity | OSCC | nuclear export | 112/7305 | 154/18723 | 1.70e-17 | 1.56e-15 | 112 |
GO:003243420 | Oral cavity | OSCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 100/7305 | 134/18723 | 4.72e-17 | 4.04e-15 | 100 |
GO:00182056 | Oral cavity | OSCC | peptidyl-lysine modification | 216/7305 | 376/18723 | 2.32e-13 | 1.16e-11 | 216 |
GO:00066119 | Oral cavity | OSCC | protein export from nucleus | 42/7305 | 57/18723 | 1.10e-07 | 1.87e-06 | 42 |
GO:00451044 | Oral cavity | OSCC | intermediate filament cytoskeleton organization | 31/7305 | 51/18723 | 1.34e-03 | 6.62e-03 | 31 |
GO:00451034 | Oral cavity | OSCC | intermediate filament-based process | 31/7305 | 52/18723 | 2.08e-03 | 9.59e-03 | 31 |
GO:00706462 | Oral cavity | OSCC | protein modification by small protein removal | 77/7305 | 157/18723 | 6.55e-03 | 2.43e-02 | 77 |
GO:0010498110 | Oral cavity | LP | proteasomal protein catabolic process | 224/4623 | 490/18723 | 9.57e-25 | 4.00e-22 | 224 |
GO:0043161110 | Oral cavity | LP | proteasome-mediated ubiquitin-dependent protein catabolic process | 190/4623 | 412/18723 | 1.08e-21 | 2.93e-19 | 190 |
GO:0042176110 | Oral cavity | LP | regulation of protein catabolic process | 177/4623 | 391/18723 | 3.00e-19 | 5.87e-17 | 177 |
GO:1903362110 | Oral cavity | LP | regulation of cellular protein catabolic process | 119/4623 | 255/18723 | 1.52e-14 | 1.76e-12 | 119 |
GO:000691318 | Oral cavity | LP | nucleocytoplasmic transport | 130/4623 | 301/18723 | 1.19e-12 | 9.77e-11 | 130 |
GO:005116918 | Oral cavity | LP | nuclear transport | 130/4623 | 301/18723 | 1.19e-12 | 9.77e-11 | 130 |
GO:1903050110 | Oral cavity | LP | regulation of proteolysis involved in cellular protein catabolic process | 101/4623 | 221/18723 | 7.00e-12 | 5.48e-10 | 101 |
GO:0061136110 | Oral cavity | LP | regulation of proteasomal protein catabolic process | 89/4623 | 187/18723 | 8.05e-12 | 6.15e-10 | 89 |
GO:0032434110 | Oral cavity | LP | regulation of proteasomal ubiquitin-dependent protein catabolic process | 67/4623 | 134/18723 | 2.09e-10 | 1.13e-08 | 67 |
GO:2000058110 | Oral cavity | LP | regulation of ubiquitin-dependent protein catabolic process | 77/4623 | 164/18723 | 4.50e-10 | 2.22e-08 | 77 |
GO:005116818 | Oral cavity | LP | nuclear export | 68/4623 | 154/18723 | 9.55e-08 | 3.13e-06 | 68 |
GO:001820513 | Oral cavity | LP | peptidyl-lysine modification | 136/4623 | 376/18723 | 3.64e-07 | 1.06e-05 | 136 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
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Related drugs of malignant transformation related genes |
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(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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