Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/DSEL_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/DSEL_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/DSEL_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/DSEL_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:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:0006029 | Esophagus | ESCC | proteoglycan metabolic process | 48/8552 | 79/18723 | 4.93e-03 | 1.89e-02 | 48 |
GO:0030166 | Esophagus | ESCC | proteoglycan biosynthetic process | 35/8552 | 56/18723 | 8.30e-03 | 2.94e-02 | 35 |
GO:0006024 | Esophagus | ESCC | glycosaminoglycan biosynthetic process | 45/8552 | 75/18723 | 8.75e-03 | 3.08e-02 | 45 |
GO:0006023 | Esophagus | ESCC | aminoglycan biosynthetic process | 47/8552 | 79/18723 | 9.29e-03 | 3.23e-02 | 47 |
GO:000679011 | Liver | Cirrhotic | sulfur compound metabolic process | 129/4634 | 339/18723 | 3.06e-08 | 1.04e-06 | 129 |
GO:00442721 | Liver | Cirrhotic | sulfur compound biosynthetic process | 58/4634 | 148/18723 | 6.93e-05 | 7.83e-04 | 58 |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
GO:00442722 | Liver | HCC | sulfur compound biosynthetic process | 95/7958 | 148/18723 | 7.89e-08 | 1.58e-06 | 95 |
GO:0009100 | Liver | HCC | glycoprotein metabolic process | 193/7958 | 387/18723 | 1.89e-03 | 9.62e-03 | 193 |
GO:004427212 | Thyroid | ATC | sulfur compound biosynthetic process | 66/6293 | 148/18723 | 3.43e-03 | 1.53e-02 | 66 |
GO:000910011 | Thyroid | ATC | glycoprotein metabolic process | 153/6293 | 387/18723 | 7.90e-03 | 3.06e-02 | 153 |
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 |
DSEL | SNV | Missense_Mutation | novel | c.3599N>G | p.Glu1200Gly | p.E1200G | Q8IZU8 | protein_coding | deleterious(0.01) | benign(0.281) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | | c.3179N>A | p.Ser1060Tyr | p.S1060Y | Q8IZU8 | protein_coding | deleterious(0) | possibly_damaging(0.61) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
DSEL | SNV | Missense_Mutation | novel | c.548C>T | p.Ser183Phe | p.S183F | Q8IZU8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | novel | c.1451C>T | p.Ser484Leu | p.S484L | Q8IZU8 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AJ-A3QS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
DSEL | SNV | Missense_Mutation | novel | c.2615N>A | p.Gly872Asp | p.G872D | Q8IZU8 | protein_coding | deleterious(0.05) | possibly_damaging(0.86) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | novel | c.758N>C | p.Lys253Thr | p.K253T | Q8IZU8 | protein_coding | tolerated(0.52) | possibly_damaging(0.665) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | novel | c.799N>A | p.Val267Ile | p.V267I | Q8IZU8 | protein_coding | tolerated(0.85) | benign(0.204) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | | c.3287N>C | p.Lys1096Thr | p.K1096T | Q8IZU8 | protein_coding | tolerated(0.21) | benign(0.1) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | novel | c.2904N>C | p.Lys968Asn | p.K968N | Q8IZU8 | protein_coding | deleterious(0.03) | possibly_damaging(0.588) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | | c.266N>A | p.Ser89Tyr | p.S89Y | Q8IZU8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |