Tissue | Expression Dynamics | Abbreviation |
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/COX19_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/COX19_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/COX19_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/COX19_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/COX19_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:003310820 | Esophagus | HGIN | mitochondrial respiratory chain complex assembly | 47/2587 | 93/18723 | 3.15e-17 | 8.60e-15 | 47 |
GO:00170044 | Esophagus | HGIN | cytochrome complex assembly | 18/2587 | 36/18723 | 2.39e-07 | 1.14e-05 | 18 |
GO:00336173 | Esophagus | HGIN | mitochondrial cytochrome c oxidase assembly | 13/2587 | 22/18723 | 9.51e-07 | 3.80e-05 | 13 |
GO:00085353 | Esophagus | HGIN | respiratory chain complex IV assembly | 14/2587 | 26/18723 | 1.68e-06 | 6.29e-05 | 14 |
GO:0033108110 | Esophagus | ESCC | mitochondrial respiratory chain complex assembly | 83/8552 | 93/18723 | 9.56e-19 | 1.05e-16 | 83 |
GO:001700413 | Esophagus | ESCC | cytochrome complex assembly | 34/8552 | 36/18723 | 5.08e-10 | 1.31e-08 | 34 |
GO:000853512 | Esophagus | ESCC | respiratory chain complex IV assembly | 24/8552 | 26/18723 | 6.87e-07 | 8.99e-06 | 24 |
GO:003361712 | Esophagus | ESCC | mitochondrial cytochrome c oxidase assembly | 21/8552 | 22/18723 | 8.75e-07 | 1.13e-05 | 21 |
GO:005507617 | Esophagus | ESCC | transition metal ion homeostasis | 87/8552 | 138/18723 | 2.85e-05 | 2.37e-04 | 87 |
GO:00469169 | Esophagus | ESCC | cellular transition metal ion homeostasis | 70/8552 | 115/18723 | 7.28e-04 | 3.79e-03 | 70 |
GO:00550703 | Esophagus | ESCC | copper ion homeostasis | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:00068781 | Esophagus | ESCC | cellular copper ion homeostasis | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
GO:003310812 | Liver | HCC | mitochondrial respiratory chain complex assembly | 80/7958 | 93/18723 | 3.47e-18 | 4.15e-16 | 80 |
GO:00170041 | Liver | HCC | cytochrome complex assembly | 30/7958 | 36/18723 | 5.69e-07 | 9.03e-06 | 30 |
GO:00336171 | Liver | HCC | mitochondrial cytochrome c oxidase assembly | 20/7958 | 22/18723 | 3.00e-06 | 3.98e-05 | 20 |
GO:00085351 | Liver | HCC | respiratory chain complex IV assembly | 22/7958 | 26/18723 | 1.23e-05 | 1.39e-04 | 22 |
GO:005507612 | Liver | HCC | transition metal ion homeostasis | 81/7958 | 138/18723 | 8.87e-05 | 7.72e-04 | 81 |
GO:004691611 | Liver | HCC | cellular transition metal ion homeostasis | 67/7958 | 115/18723 | 4.64e-04 | 3.08e-03 | 67 |
GO:0055070 | Liver | HCC | copper ion homeostasis | 14/7958 | 18/18723 | 2.57e-03 | 1.23e-02 | 14 |
GO:003310818 | Oral cavity | OSCC | mitochondrial respiratory chain complex assembly | 75/7305 | 93/18723 | 2.17e-16 | 1.68e-14 | 75 |
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 |
COX19 | insertion | Nonsense_Mutation | novel | c.219_220insACTTCTTGATG | p.Glu74ThrfsTer3 | p.E74Tfs*3 | Q49B96 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COX19 | SNV | Missense_Mutation | novel | c.134A>G | p.Asn45Ser | p.N45S | Q49B96 | protein_coding | tolerated(0.62) | benign(0.003) | TCGA-AA-3941-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COX19 | SNV | Missense_Mutation | | c.263N>T | p.Ala88Val | p.A88V | Q49B96 | protein_coding | tolerated(0.18) | benign(0.043) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COX19 | SNV | Missense_Mutation | novel | c.15G>T | p.Met5Ile | p.M5I | Q49B96 | protein_coding | tolerated(0.11) | probably_damaging(0.914) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
COX19 | SNV | Missense_Mutation | | c.105G>T | p.Glu35Asp | p.E35D | Q49B96 | protein_coding | tolerated(0.57) | benign(0.007) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COX19 | SNV | Missense_Mutation | | c.222N>T | p.Glu74Asp | p.E74D | Q49B96 | protein_coding | tolerated(0.42) | benign(0.037) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
COX19 | SNV | Missense_Mutation | | c.168N>C | p.Lys56Asn | p.K56N | Q49B96 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
COX19 | SNV | Missense_Mutation | | c.186G>T | p.Arg62Ser | p.R62S | Q49B96 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D1-A17D-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
COX19 | insertion | In_Frame_Ins | novel | c.122_123insATTTTTAGTAGAGACGGGGTTTCACCG | p.Leu41_His42insPheLeuValGluThrGlyPheHisArg | p.L41_H42insFLVETGFHR | Q49B96 | protein_coding | | | TCGA-AX-A06J-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
COX19 | insertion | Frame_Shift_Ins | novel | c.270_271insA | p.Ter91MetfsTer25 | p.*91Mfs*25 | Q49B96 | protein_coding | | | TCGA-BG-A187-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |