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/CHCHD2_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/CHCHD2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/CHCHD2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/CHCHD2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/CHCHD2_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/CHCHD2_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/CHCHD2_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/CHCHD2_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/CHCHD2_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/CHCHD2_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/CHCHD2_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:000611917 | Prostate | BPH | oxidative phosphorylation | 77/3107 | 141/18723 | 5.53e-25 | 1.14e-21 | 77 |
GO:000906016 | Prostate | BPH | aerobic respiration | 86/3107 | 189/18723 | 9.81e-21 | 1.01e-17 | 86 |
GO:004277316 | Prostate | BPH | ATP synthesis coupled electron transport | 55/3107 | 95/18723 | 7.64e-20 | 5.25e-17 | 55 |
GO:004277516 | Prostate | BPH | mitochondrial ATP synthesis coupled electron transport | 55/3107 | 95/18723 | 7.64e-20 | 5.25e-17 | 55 |
GO:000609116 | Prostate | BPH | generation of precursor metabolites and energy | 161/3107 | 490/18723 | 3.05e-19 | 1.45e-16 | 161 |
GO:002290416 | Prostate | BPH | respiratory electron transport chain | 59/3107 | 114/18723 | 5.71e-18 | 1.68e-15 | 59 |
GO:001598016 | Prostate | BPH | energy derivation by oxidation of organic compounds | 115/3107 | 318/18723 | 1.55e-17 | 4.36e-15 | 115 |
GO:004533316 | Prostate | BPH | cellular respiration | 92/3107 | 230/18723 | 1.67e-17 | 4.49e-15 | 92 |
GO:002290016 | Prostate | BPH | electron transport chain | 75/3107 | 175/18723 | 1.80e-16 | 3.85e-14 | 75 |
GO:000697918 | Prostate | BPH | response to oxidative stress | 142/3107 | 446/18723 | 8.11e-16 | 1.36e-13 | 142 |
GO:006219718 | Prostate | BPH | cellular response to chemical stress | 110/3107 | 337/18723 | 2.44e-13 | 2.40e-11 | 110 |
GO:007048217 | Prostate | BPH | response to oxygen levels | 104/3107 | 347/18723 | 3.13e-10 | 1.67e-08 | 104 |
GO:003459918 | Prostate | BPH | cellular response to oxidative stress | 90/3107 | 288/18723 | 4.70e-10 | 2.43e-08 | 90 |
GO:003629317 | Prostate | BPH | response to decreased oxygen levels | 96/3107 | 322/18723 | 2.03e-09 | 8.26e-08 | 96 |
GO:000166617 | Prostate | BPH | response to hypoxia | 92/3107 | 307/18723 | 3.29e-09 | 1.27e-07 | 92 |
GO:007145315 | Prostate | BPH | cellular response to oxygen levels | 56/3107 | 177/18723 | 5.50e-07 | 1.09e-05 | 56 |
GO:004346710 | Prostate | BPH | regulation of generation of precursor metabolites and energy | 44/3107 | 130/18723 | 1.16e-06 | 2.07e-05 | 44 |
GO:003629415 | Prostate | BPH | cellular response to decreased oxygen levels | 51/3107 | 161/18723 | 1.66e-06 | 2.79e-05 | 51 |
GO:00714568 | Prostate | BPH | cellular response to hypoxia | 47/3107 | 151/18723 | 7.09e-06 | 1.02e-04 | 47 |
GO:004603419 | Prostate | Tumor | ATP metabolic process | 122/3246 | 277/18723 | 1.71e-25 | 5.33e-22 | 122 |
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 |
CHCHD2 | SNV | Missense_Mutation | rs769442639 | c.271N>A | p.Glu91Lys | p.E91K | Q9Y6H1 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHCHD2 | SNV | Missense_Mutation | | c.293C>T | p.Thr98Ile | p.T98I | Q9Y6H1 | protein_coding | deleterious(0.01) | possibly_damaging(0.806) | TCGA-C8-A12Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
CHCHD2 | insertion | Frame_Shift_Ins | novel | c.90_91insATAATTCCACTTTATT | p.Val31IlefsTer64 | p.V31Ifs*64 | Q9Y6H1 | protein_coding | | | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
CHCHD2 | SNV | Missense_Mutation | rs776234231 | c.41C>T | p.Pro14Leu | p.P14L | Q9Y6H1 | protein_coding | tolerated(0.07) | benign(0.036) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | | c.43N>G | p.Pro15Ala | p.P15A | Q9Y6H1 | protein_coding | tolerated(0.06) | probably_damaging(0.994) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | | c.448N>G | p.Leu150Val | p.L150V | Q9Y6H1 | protein_coding | tolerated(0.15) | benign(0.178) | TCGA-A6-3808-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | rs200784526 | c.235G>A | p.Ala79Thr | p.A79T | Q9Y6H1 | protein_coding | deleterious(0.02) | possibly_damaging(0.84) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | rs780172272 | c.52N>T | p.Arg18Trp | p.R18W | Q9Y6H1 | protein_coding | deleterious(0.04) | possibly_damaging(0.649) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | | c.110N>T | p.Ala37Val | p.A37V | Q9Y6H1 | protein_coding | tolerated(0.44) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHCHD2 | SNV | Missense_Mutation | rs780172272 | c.52N>T | p.Arg18Trp | p.R18W | Q9Y6H1 | protein_coding | deleterious(0.04) | possibly_damaging(0.649) | TCGA-BS-A0TE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |