Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![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/Endometrium/DMD_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/DMD_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/DMD_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/DMD_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/DMD_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:00018196 | Breast | Precancer | positive regulation of cytokine production | 52/1080 | 467/18723 | 4.18e-06 | 1.29e-04 | 52 |
GO:00714969 | Breast | Precancer | cellular response to external stimulus | 33/1080 | 320/18723 | 9.01e-04 | 1.03e-02 | 33 |
GO:00316688 | Breast | Precancer | cellular response to extracellular stimulus | 27/1080 | 246/18723 | 1.02e-03 | 1.13e-02 | 27 |
GO:0032732 | Breast | Precancer | positive regulation of interleukin-1 production | 11/1080 | 73/18723 | 2.96e-03 | 2.55e-02 | 11 |
GO:000181911 | Breast | IDC | positive regulation of cytokine production | 61/1434 | 467/18723 | 2.81e-05 | 6.58e-04 | 61 |
GO:007149614 | Breast | IDC | cellular response to external stimulus | 45/1434 | 320/18723 | 5.40e-05 | 1.15e-03 | 45 |
GO:003166814 | Breast | IDC | cellular response to extracellular stimulus | 35/1434 | 246/18723 | 2.79e-04 | 4.26e-03 | 35 |
GO:00358214 | Breast | IDC | modulation of process of other organism | 16/1434 | 106/18723 | 6.70e-03 | 4.66e-02 | 16 |
GO:000181921 | Breast | DCIS | positive regulation of cytokine production | 63/1390 | 467/18723 | 2.76e-06 | 9.42e-05 | 63 |
GO:007149623 | Breast | DCIS | cellular response to external stimulus | 45/1390 | 320/18723 | 2.55e-05 | 5.87e-04 | 45 |
GO:003166822 | Breast | DCIS | cellular response to extracellular stimulus | 35/1390 | 246/18723 | 1.54e-04 | 2.59e-03 | 35 |
GO:00327321 | Breast | DCIS | positive regulation of interleukin-1 production | 13/1390 | 73/18723 | 2.57e-03 | 2.30e-02 | 13 |
GO:0071496 | Colorectum | AD | cellular response to external stimulus | 94/3918 | 320/18723 | 1.98e-04 | 2.64e-03 | 94 |
GO:0031668 | Colorectum | AD | cellular response to extracellular stimulus | 71/3918 | 246/18723 | 1.86e-03 | 1.52e-02 | 71 |
GO:0035821 | Colorectum | AD | modulation of process of other organism | 34/3918 | 106/18723 | 4.73e-03 | 3.22e-02 | 34 |
GO:00714961 | Colorectum | SER | cellular response to external stimulus | 70/2897 | 320/18723 | 1.40e-03 | 1.53e-02 | 70 |
GO:00316681 | Colorectum | SER | cellular response to extracellular stimulus | 54/2897 | 246/18723 | 4.26e-03 | 3.45e-02 | 54 |
GO:00714962 | Colorectum | MSS | cellular response to external stimulus | 82/3467 | 320/18723 | 9.30e-04 | 9.44e-03 | 82 |
GO:00358211 | Colorectum | MSS | modulation of process of other organism | 33/3467 | 106/18723 | 1.18e-03 | 1.14e-02 | 33 |
GO:00316682 | Colorectum | MSS | cellular response to extracellular stimulus | 62/3467 | 246/18723 | 5.39e-03 | 3.67e-02 | 62 |
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 |
DMD | SNV | Missense_Mutation | | c.8352C>A | p.Phe2784Leu | p.F2784L | | protein_coding | tolerated(1) | benign(0.007) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | | c.9584N>C | p.Arg3195Pro | p.R3195P | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A0ZO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | | c.10131N>C | p.Lys3377Asn | p.K3377N | | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | novel | c.7143N>T | p.Glu2381Asp | p.E2381D | | protein_coding | tolerated(0.69) | benign(0) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | | c.3469N>A | p.Glu1157Lys | p.E1157K | | protein_coding | deleterious(0.01) | benign(0.188) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | | c.2057N>T | p.Thr686Ile | p.T686I | | protein_coding | tolerated(0.33) | probably_damaging(0.999) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | | c.5969N>A | p.Pro1990His | p.P1990H | | protein_coding | tolerated(0.15) | possibly_damaging(0.77) | TCGA-D1-A160-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | rs764340452 | c.7430N>A | p.Arg2477Gln | p.R2477Q | | protein_coding | tolerated(0.06) | benign(0.005) | TCGA-D1-A16B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | novel | c.6148N>T | p.Gly2050Cys | p.G2050C | | protein_coding | deleterious(0.04) | possibly_damaging(0.831) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMD | SNV | Missense_Mutation | novel | c.3659N>T | p.Ser1220Phe | p.S1220F | | protein_coding | deleterious(0) | possibly_damaging(0.674) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | Ataluren | ATALUREN | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | WVE-210201 | | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | Golodirsen | GOLODIRSEN | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | PRO044 | | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | eteplirsen | ETEPLIRSEN | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | DYSTROPHIN | | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | MyoDys | | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | Biostrophin | | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | Eteplirsen | ETEPLIRSEN | |
1756 | DMD | CELL SURFACE, TRANSPORTER, DRUGGABLE GENOME | | Golodirsen | GOLODIRSEN | |