Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/DSG2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/DSG2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/DSG2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/DSG2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/OralCavity/DSG2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Prostate/DSG2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Skin/DSG2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/DSG2_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00551172 | Colorectum | FAP | regulation of cardiac muscle contraction | 19/2622 | 77/18723 | 8.67e-03 | 4.98e-02 | 19 |
GO:00300484 | Colorectum | CRC | actin filament-based movement | 42/2078 | 127/18723 | 2.96e-11 | 1.97e-08 | 42 |
GO:00329705 | Colorectum | CRC | regulation of actin filament-based process | 89/2078 | 397/18723 | 5.25e-11 | 3.14e-08 | 89 |
GO:00452165 | Colorectum | CRC | cell-cell junction organization | 48/2078 | 200/18723 | 1.67e-07 | 1.72e-05 | 48 |
GO:00860013 | Colorectum | CRC | cardiac muscle cell action potential | 24/2078 | 76/18723 | 1.28e-06 | 7.21e-05 | 24 |
GO:00989015 | Colorectum | CRC | regulation of cardiac muscle cell action potential | 13/2078 | 27/18723 | 1.67e-06 | 8.67e-05 | 13 |
GO:00702522 | Colorectum | CRC | actin-mediated cell contraction | 26/2078 | 97/18723 | 1.38e-05 | 4.37e-04 | 26 |
GO:00902575 | Colorectum | CRC | regulation of muscle system process | 51/2078 | 252/18723 | 1.49e-05 | 4.63e-04 | 51 |
GO:00015081 | Colorectum | CRC | action potential | 32/2078 | 134/18723 | 2.02e-05 | 5.90e-04 | 32 |
GO:00860032 | Colorectum | CRC | cardiac muscle cell contraction | 21/2078 | 73/18723 | 2.87e-05 | 7.61e-04 | 21 |
GO:00341095 | Colorectum | CRC | homotypic cell-cell adhesion | 24/2078 | 90/18723 | 3.19e-05 | 8.20e-04 | 24 |
GO:00860045 | Colorectum | CRC | regulation of cardiac muscle cell contraction | 13/2078 | 34/18723 | 3.64e-05 | 9.13e-04 | 13 |
GO:00989114 | Colorectum | CRC | regulation of ventricular cardiac muscle cell action potential | 7/2078 | 12/18723 | 9.80e-05 | 1.96e-03 | 7 |
GO:00860653 | Colorectum | CRC | cell communication involved in cardiac conduction | 17/2078 | 58/18723 | 1.26e-04 | 2.42e-03 | 17 |
GO:00613372 | Colorectum | CRC | cardiac conduction | 24/2078 | 98/18723 | 1.39e-04 | 2.58e-03 | 24 |
GO:00860913 | Colorectum | CRC | regulation of heart rate by cardiac conduction | 13/2078 | 39/18723 | 1.87e-04 | 3.27e-03 | 13 |
GO:19031152 | Colorectum | CRC | regulation of actin filament-based movement | 13/2078 | 39/18723 | 1.87e-04 | 3.27e-03 | 13 |
GO:00860052 | Colorectum | CRC | ventricular cardiac muscle cell action potential | 12/2078 | 35/18723 | 2.44e-04 | 4.02e-03 | 12 |
GO:00029345 | Colorectum | CRC | desmosome organization | 6/2078 | 10/18723 | 2.62e-04 | 4.24e-03 | 6 |
GO:00030123 | Colorectum | CRC | muscle system process | 74/2078 | 452/18723 | 3.92e-04 | 5.80e-03 | 74 |
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.2128N>C | p.Glu710Gln | p.E710Q | Q14126 | protein_coding | tolerated(0.44) | benign(0.153) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
DSG2 | SNV | Missense_Mutation | rs748445394 | c.219N>G | p.Ile73Met | p.I73M | Q14126 | protein_coding | deleterious(0.01) | benign(0.254) | TCGA-EW-A1OY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DSG2 | insertion | In_Frame_Ins | novel | c.2963_2964insATT | p.Thr988_Glu989insPhe | p.T988_E989insF | Q14126 | protein_coding | | | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
DSG2 | insertion | Frame_Shift_Ins | novel | c.759_760insGCCTGGGCAACAGAGCAAGACTCCATATCCAAAAAAAAGAAAAG | p.Lys254AlafsTer33 | p.K254Afs*33 | Q14126 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
DSG2 | insertion | Frame_Shift_Ins | novel | c.617_618insCAAGAAATATATTAAATTTTTTTGTTTGT | p.Tyr207LysfsTer17 | p.Y207Kfs*17 | Q14126 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSG2 | deletion | Frame_Shift_Del | novel | c.654delN | p.Glu219ArgfsTer19 | p.E219Rfs*19 | Q14126 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DSG2 | SNV | Missense_Mutation | rs751064437 | c.2915N>T | p.Ser972Phe | p.S972F | Q14126 | protein_coding | deleterious(0.01) | possibly_damaging(0.87) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
DSG2 | SNV | Missense_Mutation | | c.1045G>C | p.Asp349His | p.D349H | Q14126 | protein_coding | deleterious(0.01) | possibly_damaging(0.897) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DSG2 | SNV | Missense_Mutation | novel | c.2635G>C | p.Glu879Gln | p.E879Q | Q14126 | protein_coding | tolerated(0.09) | possibly_damaging(0.454) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DSG2 | SNV | Missense_Mutation | novel | c.134N>C | p.Val45Ala | p.V45A | Q14126 | protein_coding | deleterious(0.02) | benign(0.006) | TCGA-VS-A9UD-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |