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.92C>A | p.Thr31Asn | p.T31N | Q8IZU8 | protein_coding | deleterious_low_confidence(0.03) | benign(0.124) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
DSEL | SNV | Missense_Mutation | | c.1760N>C | p.Asn587Thr | p.N587T | Q8IZU8 | protein_coding | tolerated(0.16) | probably_damaging(0.996) | TCGA-AN-A0AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DSEL | SNV | Missense_Mutation | rs373569592 | c.1598N>T | p.Ala533Val | p.A533V | Q8IZU8 | protein_coding | deleterious(0.02) | possibly_damaging(0.745) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
DSEL | SNV | Missense_Mutation | | c.1025N>T | p.Ser342Phe | p.S342F | Q8IZU8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
DSEL | SNV | Missense_Mutation | | c.3535N>G | p.Pro1179Ala | p.P1179A | Q8IZU8 | protein_coding | tolerated(0.36) | benign(0.221) | TCGA-D8-A27N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol+adriamycin+cyclophosphamide+herceptin | SD |
DSEL | SNV | Missense_Mutation | | c.3608N>A | p.Leu1203Gln | p.L1203Q | Q8IZU8 | protein_coding | tolerated(0.18) | benign(0.021) | TCGA-E2-A1II-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DSEL | SNV | Missense_Mutation | novel | c.1867N>A | p.Pro623Thr | p.P623T | Q8IZU8 | protein_coding | tolerated(0.13) | benign(0.281) | TCGA-LL-A7SZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
DSEL | SNV | Missense_Mutation | rs778536579 | c.916N>T | p.Arg306Cys | p.R306C | Q8IZU8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-OL-A5RY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DSEL | insertion | In_Frame_Ins | novel | c.78_79insCTGTCCAACCCAACATACTACCTACCTCCACCA | p.Met26_Phe27insLeuSerAsnProThrTyrTyrLeuProProPro | p.M26_F27insLSNPTYYLPPP | Q8IZU8 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
DSEL | deletion | Frame_Shift_Del | novel | c.3276delN | p.Glu1092AspfsTer3 | p.E1092Dfs*3 | Q8IZU8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |