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:00022629 | Breast | Precancer | myeloid cell homeostasis | 27/1080 | 157/18723 | 3.10e-07 | 1.49e-05 | 27 |
GO:00341019 | Breast | Precancer | erythrocyte homeostasis | 23/1080 | 129/18723 | 1.20e-06 | 4.60e-05 | 23 |
GO:00300999 | Breast | Precancer | myeloid cell differentiation | 45/1080 | 381/18723 | 4.00e-06 | 1.25e-04 | 45 |
GO:00488729 | Breast | Precancer | homeostasis of number of cells | 32/1080 | 272/18723 | 1.03e-04 | 1.89e-03 | 32 |
GO:00302189 | Breast | Precancer | erythrocyte differentiation | 18/1080 | 120/18723 | 1.76e-04 | 2.87e-03 | 18 |
GO:00346558 | Breast | Precancer | nucleobase-containing compound catabolic process | 42/1080 | 407/18723 | 1.91e-04 | 3.06e-03 | 42 |
GO:00224119 | Breast | Precancer | cellular component disassembly | 44/1080 | 443/18723 | 3.17e-04 | 4.51e-03 | 44 |
GO:00467007 | Breast | Precancer | heterocycle catabolic process | 44/1080 | 445/18723 | 3.49e-04 | 4.88e-03 | 44 |
GO:00442708 | Breast | Precancer | cellular nitrogen compound catabolic process | 44/1080 | 451/18723 | 4.64e-04 | 6.12e-03 | 44 |
GO:00194397 | Breast | Precancer | aromatic compound catabolic process | 44/1080 | 467/18723 | 9.55e-04 | 1.07e-02 | 44 |
GO:19013617 | Breast | Precancer | organic cyclic compound catabolic process | 45/1080 | 495/18723 | 1.73e-03 | 1.74e-02 | 45 |
GO:003410114 | Breast | IDC | erythrocyte homeostasis | 27/1434 | 129/18723 | 1.34e-06 | 5.75e-05 | 27 |
GO:000226214 | Breast | IDC | myeloid cell homeostasis | 30/1434 | 157/18723 | 2.64e-06 | 1.01e-04 | 30 |
GO:003009914 | Breast | IDC | myeloid cell differentiation | 54/1434 | 381/18723 | 8.07e-06 | 2.39e-04 | 54 |
GO:003021814 | Breast | IDC | erythrocyte differentiation | 22/1434 | 120/18723 | 1.04e-04 | 1.97e-03 | 22 |
GO:004887214 | Breast | IDC | homeostasis of number of cells | 36/1434 | 272/18723 | 9.10e-04 | 1.04e-02 | 36 |
GO:190136112 | Breast | IDC | organic cyclic compound catabolic process | 56/1434 | 495/18723 | 2.12e-03 | 1.99e-02 | 56 |
GO:004670012 | Breast | IDC | heterocycle catabolic process | 51/1434 | 445/18723 | 2.51e-03 | 2.25e-02 | 51 |
GO:003465513 | Breast | IDC | nucleobase-containing compound catabolic process | 47/1434 | 407/18723 | 3.12e-03 | 2.63e-02 | 47 |
GO:004427012 | Breast | IDC | cellular nitrogen compound catabolic process | 50/1434 | 451/18723 | 5.29e-03 | 3.93e-02 | 50 |
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 |