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/DNASE2_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/DNASE2_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/DNASE2_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/DNASE2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/DNASE2_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/DNASE2_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:0022411110 | Oral cavity | LP | cellular component disassembly | 173/4623 | 443/18723 | 9.97e-12 | 7.44e-10 | 173 |
GO:003465518 | Oral cavity | LP | nucleobase-containing compound catabolic process | 161/4623 | 407/18723 | 1.61e-11 | 1.15e-09 | 161 |
GO:001943916 | Oral cavity | LP | aromatic compound catabolic process | 176/4623 | 467/18723 | 1.96e-10 | 1.08e-08 | 176 |
GO:004427017 | Oral cavity | LP | cellular nitrogen compound catabolic process | 170/4623 | 451/18723 | 3.93e-10 | 2.02e-08 | 170 |
GO:004670016 | Oral cavity | LP | heterocycle catabolic process | 168/4623 | 445/18723 | 4.35e-10 | 2.20e-08 | 168 |
GO:190136116 | Oral cavity | LP | organic cyclic compound catabolic process | 180/4623 | 495/18723 | 3.11e-09 | 1.35e-07 | 180 |
GO:0030099110 | Oral cavity | LP | myeloid cell differentiation | 130/4623 | 381/18723 | 1.94e-05 | 3.27e-04 | 130 |
GO:00903051 | Oral cavity | LP | nucleic acid phosphodiester bond hydrolysis | 92/4623 | 261/18723 | 8.07e-05 | 1.04e-03 | 92 |
GO:0034101110 | Oral cavity | LP | erythrocyte homeostasis | 47/4623 | 129/18723 | 1.91e-03 | 1.43e-02 | 47 |
GO:0002262110 | Oral cavity | LP | myeloid cell homeostasis | 55/4623 | 157/18723 | 2.33e-03 | 1.68e-02 | 55 |
GO:0048872110 | Oral cavity | LP | homeostasis of number of cells | 87/4623 | 272/18723 | 3.75e-03 | 2.47e-02 | 87 |
GO:0030218110 | Oral cavity | LP | erythrocyte differentiation | 43/4623 | 120/18723 | 4.13e-03 | 2.66e-02 | 43 |
GO:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
GO:0034655111 | Skin | cSCC | nucleobase-containing compound catabolic process | 172/4864 | 407/18723 | 4.11e-13 | 2.43e-11 | 172 |
GO:0046700110 | Skin | cSCC | heterocycle catabolic process | 178/4864 | 445/18723 | 4.45e-11 | 2.13e-09 | 178 |
GO:0044270110 | Skin | cSCC | cellular nitrogen compound catabolic process | 179/4864 | 451/18723 | 8.34e-11 | 3.79e-09 | 179 |
GO:0019439110 | Skin | cSCC | aromatic compound catabolic process | 183/4864 | 467/18723 | 1.76e-10 | 7.68e-09 | 183 |
GO:1901361110 | Skin | cSCC | organic cyclic compound catabolic process | 188/4864 | 495/18723 | 1.92e-09 | 7.01e-08 | 188 |
GO:003009929 | Skin | cSCC | myeloid cell differentiation | 146/4864 | 381/18723 | 6.38e-08 | 1.61e-06 | 146 |
GO:000226229 | Skin | cSCC | myeloid cell homeostasis | 67/4864 | 157/18723 | 3.79e-06 | 5.70e-05 | 67 |
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 |
DNASE2 | SNV | Missense_Mutation | novel | c.719C>G | p.Ser240Cys | p.S240C | O00115 | protein_coding | deleterious(0.05) | possibly_damaging(0.895) | TCGA-A7-A4SA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
DNASE2 | SNV | Missense_Mutation | | c.124G>C | p.Gly42Arg | p.G42R | O00115 | protein_coding | tolerated(0.23) | benign(0.035) | TCGA-AN-A0FK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DNASE2 | SNV | Missense_Mutation | rs766377327 | c.721N>A | p.Gly241Ser | p.G241S | O00115 | protein_coding | tolerated(0.21) | benign(0.274) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
DNASE2 | insertion | Frame_Shift_Ins | novel | c.296_297insCCCTTGGAGAGAGACTAAAGAAGGACCTGTGCTGATTTGTTTTAGA | p.Gln101TrpfsTer36 | p.Q101Wfs*36 | O00115 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
DNASE2 | deletion | Frame_Shift_Del | | c.415delG | p.Ala139ProfsTer36 | p.A139Pfs*36 | O00115 | protein_coding | | | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
DNASE2 | insertion | Frame_Shift_Ins | novel | c.200_201insGGTATTAAAG | p.Ile68ValfsTer33 | p.I68Vfs*33 | O00115 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
DNASE2 | insertion | Nonsense_Mutation | novel | c.198_199insATTCTCCTGTCTCAGCCTCCCAAGTAG | p.Ala66_Leu67insIleLeuLeuSerGlnProProLysTer | p.A66_L67insILLSQPPK* | O00115 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
DNASE2 | insertion | Frame_Shift_Ins | novel | c.87-1_87insTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGA | p.Trp29CysfsTer25 | p.W29Cfs*25 | O00115 | protein_coding | | | TCGA-BH-A0GY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyotxan | SD |
DNASE2 | insertion | Nonsense_Mutation | novel | c.797_798insAAATTAGCCAGACATGGTGGCACGCGTCTGTGGTCCTAGCTC | p.Asn266delinsLysAsnTerProAspMetValAlaArgValCysGlyProSerSer | p.N266delinsKN*PDMVARVCGPSS | O00115 | protein_coding | | | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
DNASE2 | SNV | Missense_Mutation | | c.263N>A | p.Ser88Asn | p.S88N | O00115 | protein_coding | tolerated(0.14) | benign(0.241) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |