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Gene: DSG2 |
Gene summary for DSG2 |
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Gene information | Species | Human | Gene symbol | DSG2 | Gene ID | 1829 |
Gene name | desmoglein 2 | |
Gene Alias | CDHF5 | |
Cytomap | 18q12.1 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | Q14126 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1829 | DSG2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.72e-05 | 6.78e-01 | -0.0811 |
1829 | DSG2 | HTA11_78_2000001011 | Human | Colorectum | AD | 5.26e-07 | 7.27e-01 | -0.1088 |
1829 | DSG2 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.12e-24 | 9.43e-01 | -0.1954 |
1829 | DSG2 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.19e-02 | 9.98e-01 | -0.2602 |
1829 | DSG2 | HTA11_6801_2000001011 | Human | Colorectum | SER | 4.90e-02 | 7.10e-01 | 0.0171 |
1829 | DSG2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.46e-05 | 6.17e-01 | 0.294 |
1829 | DSG2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 8.26e-15 | 9.70e-01 | 0.281 |
1829 | DSG2 | F007 | Human | Colorectum | FAP | 1.23e-06 | -4.30e-01 | 0.1176 |
1829 | DSG2 | A001-C-207 | Human | Colorectum | FAP | 2.24e-05 | -2.61e-01 | 0.1278 |
1829 | DSG2 | A015-C-203 | Human | Colorectum | FAP | 8.39e-23 | -3.79e-01 | -0.1294 |
1829 | DSG2 | A015-C-204 | Human | Colorectum | FAP | 8.04e-08 | -2.37e-01 | -0.0228 |
1829 | DSG2 | A014-C-040 | Human | Colorectum | FAP | 5.29e-07 | -5.84e-01 | -0.1184 |
1829 | DSG2 | A002-C-201 | Human | Colorectum | FAP | 6.50e-15 | -3.12e-01 | 0.0324 |
1829 | DSG2 | A002-C-203 | Human | Colorectum | FAP | 2.83e-03 | -7.05e-02 | 0.2786 |
1829 | DSG2 | A001-C-119 | Human | Colorectum | FAP | 1.47e-08 | -4.15e-01 | -0.1557 |
1829 | DSG2 | A001-C-108 | Human | Colorectum | FAP | 8.08e-15 | -2.54e-01 | -0.0272 |
1829 | DSG2 | A002-C-205 | Human | Colorectum | FAP | 7.55e-21 | -3.80e-01 | -0.1236 |
1829 | DSG2 | A014-C-108 | Human | Colorectum | FAP | 4.49e-03 | -3.50e-01 | -0.124 |
1829 | DSG2 | A001-C-104 | Human | Colorectum | FAP | 2.92e-03 | -2.44e-01 | 0.0184 |
1829 | DSG2 | A015-C-005 | Human | Colorectum | FAP | 7.71e-04 | -1.75e-01 | -0.0336 |
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∗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:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
GO:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:0034109 | Colorectum | AD | homotypic cell-cell adhesion | 40/3918 | 90/18723 | 4.37e-07 | 1.67e-05 | 40 |
GO:0098901 | Colorectum | AD | regulation of cardiac muscle cell action potential | 15/3918 | 27/18723 | 8.20e-05 | 1.29e-03 | 15 |
GO:0098911 | Colorectum | AD | regulation of ventricular cardiac muscle cell action potential | 9/3918 | 12/18723 | 9.01e-05 | 1.38e-03 | 9 |
GO:0002934 | Colorectum | AD | desmosome organization | 8/3918 | 10/18723 | 1.09e-04 | 1.62e-03 | 8 |
GO:0030048 | Colorectum | AD | actin filament-based movement | 44/3918 | 127/18723 | 2.31e-04 | 2.99e-03 | 44 |
GO:0090257 | Colorectum | AD | regulation of muscle system process | 73/3918 | 252/18723 | 1.46e-03 | 1.24e-02 | 73 |
GO:0086004 | Colorectum | AD | regulation of cardiac muscle cell contraction | 15/3918 | 34/18723 | 1.96e-03 | 1.58e-02 | 15 |
GO:00329701 | Colorectum | SER | regulation of actin filament-based process | 115/2897 | 397/18723 | 4.16e-12 | 8.80e-10 | 115 |
GO:00452161 | Colorectum | SER | cell-cell junction organization | 63/2897 | 200/18723 | 9.15e-09 | 7.80e-07 | 63 |
GO:00341091 | Colorectum | SER | homotypic cell-cell adhesion | 32/2897 | 90/18723 | 2.23e-06 | 9.31e-05 | 32 |
GO:00300481 | Colorectum | SER | actin filament-based movement | 38/2897 | 127/18723 | 2.80e-05 | 7.56e-04 | 38 |
GO:00029341 | Colorectum | SER | desmosome organization | 7/2897 | 10/18723 | 1.64e-04 | 3.12e-03 | 7 |
GO:00989011 | Colorectum | SER | regulation of cardiac muscle cell action potential | 12/2897 | 27/18723 | 3.27e-04 | 5.22e-03 | 12 |
GO:00902571 | Colorectum | SER | regulation of muscle system process | 60/2897 | 252/18723 | 3.28e-04 | 5.22e-03 | 60 |
GO:00989111 | Colorectum | SER | regulation of ventricular cardiac muscle cell action potential | 7/2897 | 12/18723 | 8.12e-04 | 1.01e-02 | 7 |
GO:0003012 | Colorectum | SER | muscle system process | 92/2897 | 452/18723 | 2.98e-03 | 2.63e-02 | 92 |
GO:00860041 | Colorectum | SER | regulation of cardiac muscle cell contraction | 12/2897 | 34/18723 | 3.60e-03 | 3.03e-02 | 12 |
GO:0055117 | Colorectum | SER | regulation of cardiac muscle contraction | 21/2897 | 77/18723 | 5.54e-03 | 4.09e-02 | 21 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05412 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa054121 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa054122 | Colorectum | CRC | Arrhythmogenic right ventricular cardiomyopathy | 18/1091 | 77/8465 | 7.90e-03 | 3.77e-02 | 2.55e-02 | 18 |
hsa054123 | Colorectum | CRC | Arrhythmogenic right ventricular cardiomyopathy | 18/1091 | 77/8465 | 7.90e-03 | 3.77e-02 | 2.55e-02 | 18 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Breast | DCIS |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Breast | Healthy |
DSG2 | DSC3 | DSG2_DSC3 | DESMOSOME | Breast | IDC |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Breast | Precancer |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Cervix | CC |
DSG2 | DSC3 | DSG2_DSC3 | DESMOSOME | Cervix | CC |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Cervix | Precancer |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | AD |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | ADJ |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | FAP |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | Healthy |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | MSI-H |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | MSS |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | CRC | SER |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Esophagus | ADJ |
DSG2 | DSC3 | DSG2_DSC3 | DESMOSOME | Esophagus | ADJ |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | Esophagus | ESCC |
DSG2 | DSC3 | DSG2_DSC3 | DESMOSOME | Esophagus | ESCC |
DSC1 | DSG2 | DSC1_DSG2 | DESMOSOME | HNSCC | OSCC |
DSC2 | DSG2 | DSC2_DSG2 | DESMOSOME | HNSCC | OSCC |
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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 |
DSG2 | SNV | Missense_Mutation | novel | c.1404N>T | p.Lys468Asn | p.K468N | Q14126 | protein_coding | deleterious(0.03) | possibly_damaging(0.783) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
DSG2 | SNV | Missense_Mutation | c.2981N>A | p.Pro994His | p.P994H | Q14126 | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD | |
DSG2 | SNV | Missense_Mutation | rs397516705 | c.2212N>A | p.Ala738Thr | p.A738T | Q14126 | protein_coding | tolerated(0.21) | benign(0) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DSG2 | SNV | Missense_Mutation | novel | c.2452N>A | p.Glu818Lys | p.E818K | Q14126 | protein_coding | deleterious(0.02) | probably_damaging(0.961) | TCGA-AG-3728-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
DSG2 | SNV | Missense_Mutation | novel | c.2729N>A | p.Arg910Lys | p.R910K | Q14126 | protein_coding | tolerated(0.93) | benign(0.001) | TCGA-AG-3728-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
DSG2 | SNV | Missense_Mutation | novel | c.3197N>C | p.Glu1066Ala | p.E1066A | Q14126 | protein_coding | tolerated(0.31) | benign(0.007) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSG2 | SNV | Missense_Mutation | novel | c.1607N>C | p.Lys536Thr | p.K536T | Q14126 | protein_coding | tolerated(0.09) | benign(0.003) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DSG2 | SNV | Missense_Mutation | novel | c.1037A>G | p.Lys346Arg | p.K346R | Q14126 | protein_coding | tolerated(0.2) | probably_damaging(0.953) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DSG2 | SNV | Missense_Mutation | novel | c.688N>A | p.Glu230Lys | p.E230K | Q14126 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
DSG2 | SNV | Missense_Mutation | novel | c.3091C>T | p.Pro1031Ser | p.P1031S | Q14126 | protein_coding | tolerated(0.57) | benign(0.03) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
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