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/PNKD_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/PNKD_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/PNKD_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/PNKD_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/PNKD_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/PNKD_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/PNKD_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/PNKD_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/PNKD_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:0044282 | Colorectum | AD | small molecule catabolic process | 118/3918 | 376/18723 | 1.05e-06 | 3.55e-05 | 118 |
GO:0006081 | Colorectum | AD | cellular aldehyde metabolic process | 22/3918 | 60/18723 | 3.64e-03 | 2.60e-02 | 22 |
GO:00442821 | Colorectum | SER | small molecule catabolic process | 87/2897 | 376/18723 | 5.31e-05 | 1.27e-03 | 87 |
GO:0051051 | Colorectum | SER | negative regulation of transport | 98/2897 | 470/18723 | 1.01e-03 | 1.19e-02 | 98 |
GO:1903531 | Colorectum | SER | negative regulation of secretion by cell | 35/2897 | 147/18723 | 5.21e-03 | 3.95e-02 | 35 |
GO:0051048 | Colorectum | SER | negative regulation of secretion | 39/2897 | 171/18723 | 7.17e-03 | 4.99e-02 | 39 |
GO:00442822 | Colorectum | MSS | small molecule catabolic process | 94/3467 | 376/18723 | 9.85e-04 | 9.86e-03 | 94 |
GO:00060811 | Colorectum | MSS | cellular aldehyde metabolic process | 21/3467 | 60/18723 | 1.81e-03 | 1.60e-02 | 21 |
GO:00510511 | Colorectum | MSS | negative regulation of transport | 110/3467 | 470/18723 | 4.20e-03 | 3.04e-02 | 110 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00442823 | Colorectum | FAP | small molecule catabolic process | 77/2622 | 376/18723 | 3.25e-04 | 4.16e-03 | 77 |
GO:00510512 | Colorectum | FAP | negative regulation of transport | 91/2622 | 470/18723 | 7.09e-04 | 7.64e-03 | 91 |
GO:00421805 | Esophagus | ESCC | cellular ketone metabolic process | 120/8552 | 211/18723 | 6.70e-04 | 3.55e-03 | 120 |
GO:00060818 | Esophagus | ESCC | cellular aldehyde metabolic process | 40/8552 | 60/18723 | 8.30e-04 | 4.28e-03 | 40 |
GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:004428211 | Liver | Cirrhotic | small molecule catabolic process | 151/4634 | 376/18723 | 2.20e-11 | 1.34e-09 | 151 |
GO:004218011 | Liver | Cirrhotic | cellular ketone metabolic process | 80/4634 | 211/18723 | 1.40e-05 | 1.95e-04 | 80 |
GO:00060815 | Liver | Cirrhotic | cellular aldehyde metabolic process | 28/4634 | 60/18723 | 1.83e-04 | 1.71e-03 | 28 |
GO:0044106 | Liver | Cirrhotic | cellular amine metabolic process | 43/4634 | 113/18723 | 1.15e-03 | 7.83e-03 | 43 |
GO:0046185 | Liver | Cirrhotic | aldehyde catabolic process | 8/4634 | 12/18723 | 2.59e-03 | 1.53e-02 | 8 |
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 |
PNKD | SNV | Missense_Mutation | | c.73C>A | p.Leu25Ile | p.L25I | Q8N490 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.899) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.353N>A | p.Gly118Glu | p.G118E | Q8N490 | protein_coding | deleterious(0.05) | possibly_damaging(0.895) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | rs780464180 | c.983N>T | p.Thr328Met | p.T328M | Q8N490 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | rs759669801 | c.785N>A | p.Arg262Gln | p.R262Q | Q8N490 | protein_coding | deleterious(0.01) | probably_damaging(0.934) | TCGA-FI-A2EU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatinum | CR |
PNKD | SNV | Missense_Mutation | novel | c.452N>A | p.Pro151His | p.P151H | Q8N490 | protein_coding | deleterious(0.01) | possibly_damaging(0.644) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.368C>G | p.Pro123Arg | p.P123R | Q8N490 | protein_coding | tolerated(0.09) | probably_damaging(0.999) | TCGA-38-4631-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PNKD | SNV | Missense_Mutation | rs749437540 | c.663C>G | p.Ile221Met | p.I221M | Q8N490 | protein_coding | deleterious(0) | benign(0.356) | TCGA-44-6777-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.985T>G | p.Cys329Gly | p.C329G | Q8N490 | protein_coding | tolerated(0.07) | benign(0.217) | TCGA-56-8201-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
PNKD | SNV | Missense_Mutation | novel | c.319N>A | p.Gly107Ser | p.G107S | Q8N490 | protein_coding | tolerated(0.1) | possibly_damaging(0.631) | TCGA-90-A4ED-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.364C>A | p.Leu122Ile | p.L122I | Q8N490 | protein_coding | tolerated(0.46) | benign(0.027) | TCGA-CR-7386-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | paclitaxel | PD |