Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/CHD2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/CHD2_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/CHD2_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/CHD2_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/CHD2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/CHD2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/CHD2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/CHD2_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/CHD2_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:007145320 | Skin | AK | cellular response to oxygen levels | 29/1910 | 177/18723 | 7.00e-03 | 3.63e-02 | 29 |
GO:000751715 | Skin | SCCIS | muscle organ development | 28/919 | 327/18723 | 3.12e-03 | 2.83e-02 | 28 |
GO:0009060111 | Skin | cSCC | aerobic respiration | 118/4864 | 189/18723 | 3.71e-26 | 1.22e-23 | 118 |
GO:0045333111 | Skin | cSCC | cellular respiration | 131/4864 | 230/18723 | 1.57e-23 | 3.39e-21 | 131 |
GO:0006091111 | Skin | cSCC | generation of precursor metabolites and energy | 224/4864 | 490/18723 | 1.13e-21 | 2.21e-19 | 224 |
GO:002290026 | Skin | cSCC | electron transport chain | 104/4864 | 175/18723 | 7.28e-21 | 1.23e-18 | 104 |
GO:0006119112 | Skin | cSCC | oxidative phosphorylation | 89/4864 | 141/18723 | 1.56e-20 | 2.49e-18 | 89 |
GO:004277326 | Skin | cSCC | ATP synthesis coupled electron transport | 68/4864 | 95/18723 | 1.59e-20 | 2.49e-18 | 68 |
GO:004277526 | Skin | cSCC | mitochondrial ATP synthesis coupled electron transport | 68/4864 | 95/18723 | 1.59e-20 | 2.49e-18 | 68 |
GO:0046034112 | Skin | cSCC | ATP metabolic process | 142/4864 | 277/18723 | 1.38e-19 | 1.96e-17 | 142 |
GO:002290426 | Skin | cSCC | respiratory electron transport chain | 74/4864 | 114/18723 | 2.52e-18 | 3.29e-16 | 74 |
GO:001598026 | Skin | cSCC | energy derivation by oxidation of organic compounds | 154/4864 | 318/18723 | 4.19e-18 | 5.15e-16 | 154 |
GO:000697929 | Skin | cSCC | response to oxidative stress | 184/4864 | 446/18723 | 8.57e-13 | 4.89e-11 | 184 |
GO:006219729 | Skin | cSCC | cellular response to chemical stress | 138/4864 | 337/18723 | 1.10e-09 | 4.23e-08 | 138 |
GO:003459928 | Skin | cSCC | cellular response to oxidative stress | 117/4864 | 288/18723 | 3.37e-08 | 8.95e-07 | 117 |
GO:007048226 | Skin | cSCC | response to oxygen levels | 133/4864 | 347/18723 | 2.39e-07 | 5.07e-06 | 133 |
GO:003239215 | Skin | cSCC | DNA geometric change | 44/4864 | 90/18723 | 2.53e-06 | 4.06e-05 | 44 |
GO:000166626 | Skin | cSCC | response to hypoxia | 116/4864 | 307/18723 | 3.09e-06 | 4.81e-05 | 116 |
GO:000632519 | Skin | cSCC | chromatin organization | 147/4864 | 409/18723 | 4.41e-06 | 6.52e-05 | 147 |
GO:003629326 | Skin | cSCC | response to decreased oxygen levels | 119/4864 | 322/18723 | 7.98e-06 | 1.09e-04 | 119 |
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 |
CHD2 | SNV | Missense_Mutation | novel | c.4091N>T | p.Ser1364Leu | p.S1364L | O14647 | protein_coding | tolerated(0.06) | benign(0.04) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CHD2 | SNV | Missense_Mutation | novel | c.2893N>G | p.Lys965Glu | p.K965E | O14647 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CHD2 | SNV | Missense_Mutation | rs769085842 | c.5329C>G | p.Leu1777Val | p.L1777V | O14647 | protein_coding | tolerated_low_confidence(0.11) | benign(0.001) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHD2 | SNV | Missense_Mutation | novel | c.362G>A | p.Arg121Gln | p.R121Q | O14647 | protein_coding | deleterious(0.03) | probably_damaging(0.978) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHD2 | SNV | Missense_Mutation | novel | c.1696G>A | p.Gly566Ser | p.G566S | O14647 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHD2 | SNV | Missense_Mutation | | c.2855A>G | p.Glu952Gly | p.E952G | O14647 | protein_coding | tolerated(0.07) | benign(0.01) | TCGA-AN-A0AS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CHD2 | SNV | Missense_Mutation | novel | c.569N>A | p.Arg190His | p.R190H | O14647 | protein_coding | tolerated(0.06) | benign(0.026) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CHD2 | SNV | Missense_Mutation | novel | c.2125N>T | p.Leu709Phe | p.L709F | O14647 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
CHD2 | SNV | Missense_Mutation | rs748103788 | c.3752G>A | p.Arg1251His | p.R1251H | O14647 | protein_coding | tolerated(0.74) | benign(0.007) | TCGA-D8-A1JL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHD2 | SNV | Missense_Mutation | novel | c.5372N>T | p.Pro1791Leu | p.P1791L | O14647 | protein_coding | tolerated_low_confidence(0.23) | benign(0.003) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |