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/P3H2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/P3H2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/P3H2_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/P3H2_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/P3H2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001820816 | Esophagus | ESCC | peptidyl-proline modification | 46/8552 | 58/18723 | 1.59e-07 | 2.51e-06 | 46 |
GO:00181263 | Esophagus | ESCC | protein hydroxylation | 23/8552 | 27/18723 | 2.60e-05 | 2.19e-04 | 23 |
GO:00195114 | Esophagus | ESCC | peptidyl-proline hydroxylation | 13/8552 | 15/18723 | 1.31e-03 | 6.26e-03 | 13 |
GO:00329631 | Esophagus | ESCC | collagen metabolic process | 62/8552 | 104/18723 | 2.90e-03 | 1.22e-02 | 62 |
GO:00182088 | Oral cavity | OSCC | peptidyl-proline modification | 42/7305 | 58/18723 | 2.49e-07 | 3.92e-06 | 42 |
GO:00181262 | Oral cavity | OSCC | protein hydroxylation | 22/7305 | 27/18723 | 7.89e-06 | 8.49e-05 | 22 |
GO:00195113 | Oral cavity | OSCC | peptidyl-proline hydroxylation | 13/7305 | 15/18723 | 2.07e-04 | 1.36e-03 | 13 |
GO:0032963 | Oral cavity | OSCC | collagen metabolic process | 54/7305 | 104/18723 | 5.00e-03 | 1.96e-02 | 54 |
GO:001820815 | Oral cavity | LP | peptidyl-proline modification | 28/4623 | 58/18723 | 8.35e-05 | 1.07e-03 | 28 |
GO:001812611 | Oral cavity | LP | protein hydroxylation | 14/4623 | 27/18723 | 2.14e-03 | 1.57e-02 | 14 |
GO:00329632 | Skin | SCCIS | collagen metabolic process | 13/919 | 104/18723 | 1.72e-03 | 1.87e-02 | 13 |
GO:001820810 | Skin | cSCC | peptidyl-proline modification | 37/4864 | 58/18723 | 1.53e-09 | 5.82e-08 | 37 |
GO:00195115 | Skin | cSCC | peptidyl-proline hydroxylation | 10/4864 | 15/18723 | 1.10e-03 | 7.24e-03 | 10 |
GO:00181264 | Skin | cSCC | protein hydroxylation | 14/4864 | 27/18723 | 3.58e-03 | 1.93e-02 | 14 |
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 |
P3H2 | SNV | Missense_Mutation | | c.961N>A | p.Glu321Lys | p.E321K | Q8IVL5 | protein_coding | tolerated(0.24) | benign(0.003) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
P3H2 | SNV | Missense_Mutation | | c.2101N>C | p.Asn701His | p.N701H | Q8IVL5 | protein_coding | deleterious_low_confidence(0.02) | benign(0.161) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
P3H2 | SNV | Missense_Mutation | | c.904N>C | p.Glu302Gln | p.E302Q | Q8IVL5 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
P3H2 | SNV | Missense_Mutation | | c.758G>T | p.Gly253Val | p.G253V | Q8IVL5 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AN-A0AR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
P3H2 | SNV | Missense_Mutation | novel | c.1810G>C | p.Asp604His | p.D604H | Q8IVL5 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
P3H2 | SNV | Missense_Mutation | | c.1099N>C | p.Asp367His | p.D367H | Q8IVL5 | protein_coding | deleterious(0.01) | possibly_damaging(0.764) | TCGA-C8-A12K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
P3H2 | SNV | Missense_Mutation | rs778738955 | c.1784N>C | p.Lys595Thr | p.K595T | Q8IVL5 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
P3H2 | SNV | Missense_Mutation | novel | c.1543C>T | p.Leu515Phe | p.L515F | Q8IVL5 | protein_coding | deleterious(0.02) | benign(0.135) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
P3H2 | SNV | Missense_Mutation | novel | c.1347N>A | p.Asn449Lys | p.N449K | Q8IVL5 | protein_coding | deleterious(0.02) | benign(0.044) | TCGA-C5-A8YT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
P3H2 | SNV | Missense_Mutation | novel | c.445N>C | p.Val149Leu | p.V149L | Q8IVL5 | protein_coding | tolerated(0.15) | benign(0) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |