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 | novel | c.1070N>C | p.Gly357Ala | p.G357A | Q8N490 | protein_coding | tolerated(0.61) | benign(0.003) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
PNKD | SNV | Missense_Mutation | novel | c.449N>T | p.Asp150Val | p.D150V | Q8N490 | protein_coding | tolerated(0.09) | probably_damaging(0.99) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
PNKD | insertion | Frame_Shift_Ins | novel | c.116_117insTCCT | p.Ala40ProfsTer16 | p.A40Pfs*16 | Q8N490 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PNKD | insertion | Frame_Shift_Ins | novel | c.117_118insCCTCAACCTCCCGAGGAGCTGGGACTACAGGC | p.Ala40ProfsTer44 | p.A40Pfs*44 | Q8N490 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PNKD | insertion | In_Frame_Ins | novel | c.815_816insTGGCCCCCTTCA | p.Leu272_Ser273insGlyProLeuGln | p.L272_S273insGPLQ | Q8N490 | protein_coding | | | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.341G>C | p.Arg114Pro | p.R114P | Q8N490 | protein_coding | tolerated(0.2) | benign(0.371) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PNKD | SNV | Missense_Mutation | rs148141539 | c.1130N>A | p.Arg377Gln | p.R377Q | Q8N490 | protein_coding | tolerated(0.24) | benign(0) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
PNKD | SNV | Missense_Mutation | | c.505N>A | p.Leu169Met | p.L169M | Q8N490 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PNKD | SNV | Missense_Mutation | novel | c.899N>G | p.Phe300Cys | p.F300C | Q8N490 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PNKD | SNV | Missense_Mutation | | c.505N>A | p.Leu169Met | p.L169M | Q8N490 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |