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:0003161 | Thyroid | HT | cardiac conduction system development | 8/1272 | 37/18723 | 2.91e-03 | 2.36e-02 | 8 |
GO:00032292 | Thyroid | HT | ventricular cardiac muscle tissue development | 10/1272 | 55/18723 | 3.57e-03 | 2.73e-02 | 10 |
GO:009025715 | Thyroid | HT | regulation of muscle system process | 29/1272 | 252/18723 | 3.79e-03 | 2.82e-02 | 29 |
GO:009890118 | Thyroid | HT | regulation of cardiac muscle cell action potential | 6/1272 | 27/18723 | 8.36e-03 | 4.79e-02 | 6 |
GO:0032970113 | Thyroid | PTC | regulation of actin filament-based process | 197/5968 | 397/18723 | 8.91e-14 | 4.89e-12 | 197 |
GO:0045216111 | Thyroid | PTC | cell-cell junction organization | 93/5968 | 200/18723 | 1.01e-05 | 1.12e-04 | 93 |
GO:0034109112 | Thyroid | PTC | homotypic cell-cell adhesion | 47/5968 | 90/18723 | 4.81e-05 | 4.31e-04 | 47 |
GO:006053719 | Thyroid | PTC | muscle tissue development | 156/5968 | 403/18723 | 1.98e-03 | 1.06e-02 | 156 |
GO:001470617 | Thyroid | PTC | striated muscle tissue development | 144/5968 | 384/18723 | 1.05e-02 | 4.22e-02 | 144 |
GO:0032970210 | Thyroid | ATC | regulation of actin filament-based process | 208/6293 | 397/18723 | 5.82e-15 | 3.80e-13 | 208 |
GO:006053724 | Thyroid | ATC | muscle tissue development | 181/6293 | 403/18723 | 1.27e-06 | 1.62e-05 | 181 |
GO:004521629 | Thyroid | ATC | cell-cell junction organization | 99/6293 | 200/18723 | 2.26e-06 | 2.68e-05 | 99 |
GO:001470622 | Thyroid | ATC | striated muscle tissue development | 168/6293 | 384/18723 | 1.91e-05 | 1.73e-04 | 168 |
GO:003410933 | Thyroid | ATC | homotypic cell-cell adhesion | 48/6293 | 90/18723 | 8.92e-05 | 6.59e-04 | 48 |
GO:004873811 | Thyroid | ATC | cardiac muscle tissue development | 103/6293 | 236/18723 | 7.93e-04 | 4.37e-03 | 103 |
GO:00032291 | Thyroid | ATC | ventricular cardiac muscle tissue development | 27/6293 | 55/18723 | 1.24e-02 | 4.38e-02 | 27 |
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 |