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/PNPT1_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/PNPT1_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/PNPT1_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/PNPT1_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/PNPT1_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:005065811 | Liver | HCC | RNA transport | 118/7958 | 163/18723 | 8.30e-15 | 5.60e-13 | 118 |
GO:000188922 | Liver | HCC | liver development | 108/7958 | 147/18723 | 2.16e-14 | 1.41e-12 | 108 |
GO:001593111 | Liver | HCC | nucleobase-containing compound transport | 150/7958 | 222/18723 | 3.17e-14 | 2.03e-12 | 150 |
GO:006100822 | Liver | HCC | hepaticobiliary system development | 109/7958 | 150/18723 | 5.72e-14 | 3.42e-12 | 109 |
GO:004348721 | Liver | HCC | regulation of RNA stability | 119/7958 | 170/18723 | 3.20e-13 | 1.71e-11 | 119 |
GO:003459922 | Liver | HCC | cellular response to oxidative stress | 183/7958 | 288/18723 | 3.65e-13 | 1.93e-11 | 183 |
GO:004343422 | Liver | HCC | response to peptide hormone | 247/7958 | 414/18723 | 9.55e-13 | 4.77e-11 | 247 |
GO:01400531 | Liver | HCC | mitochondrial gene expression | 82/7958 | 108/18723 | 1.49e-12 | 7.20e-11 | 82 |
GO:199054212 | Liver | HCC | mitochondrial transmembrane transport | 78/7958 | 102/18723 | 2.73e-12 | 1.26e-10 | 78 |
GO:004348821 | Liver | HCC | regulation of mRNA stability | 110/7958 | 158/18723 | 4.36e-12 | 1.93e-10 | 110 |
GO:006101321 | Liver | HCC | regulation of mRNA catabolic process | 114/7958 | 166/18723 | 7.38e-12 | 3.12e-10 | 114 |
GO:190331321 | Liver | HCC | positive regulation of mRNA metabolic process | 85/7958 | 118/18723 | 7.10e-11 | 2.56e-09 | 85 |
GO:00311241 | Liver | HCC | mRNA 3'-end processing | 50/7958 | 62/18723 | 8.44e-10 | 2.60e-08 | 50 |
GO:004346722 | Liver | HCC | regulation of generation of precursor metabolites and energy | 89/7958 | 130/18723 | 1.84e-09 | 5.35e-08 | 89 |
GO:00905011 | Liver | HCC | RNA phosphodiester bond hydrolysis | 101/7958 | 152/18723 | 1.99e-09 | 5.63e-08 | 101 |
GO:00311231 | Liver | HCC | RNA 3'-end processing | 81/7958 | 116/18723 | 2.27e-09 | 6.32e-08 | 81 |
GO:004873222 | Liver | HCC | gland development | 242/7958 | 436/18723 | 2.26e-08 | 5.28e-07 | 242 |
GO:005077921 | Liver | HCC | RNA destabilization | 63/7958 | 88/18723 | 2.99e-08 | 6.77e-07 | 63 |
GO:006101421 | Liver | HCC | positive regulation of mRNA catabolic process | 62/7958 | 87/18723 | 5.08e-08 | 1.09e-06 | 62 |
GO:006115721 | Liver | HCC | mRNA destabilization | 60/7958 | 84/18723 | 7.28e-08 | 1.48e-06 | 60 |
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 |
PNPT1 | SNV | Missense_Mutation | rs765249456 | c.2144G>A | p.Arg715Gln | p.R715Q | Q8TCS8 | protein_coding | deleterious(0.04) | possibly_damaging(0.783) | TCGA-A8-A08J-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PNPT1 | SNV | Missense_Mutation | | c.675N>C | p.Gln225His | p.Q225H | Q8TCS8 | protein_coding | tolerated(0.14) | benign(0.02) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PNPT1 | SNV | Missense_Mutation | novel | c.16N>G | p.Tyr6Asp | p.Y6D | Q8TCS8 | protein_coding | tolerated_low_confidence(0.2) | benign(0.003) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
PNPT1 | SNV | Missense_Mutation | rs757766273 | c.1148N>T | p.Ser383Leu | p.S383L | Q8TCS8 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-AR-A24S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
PNPT1 | SNV | Missense_Mutation | | c.235N>A | p.Ala79Thr | p.A79T | Q8TCS8 | protein_coding | tolerated(0.14) | benign(0.249) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PNPT1 | SNV | Missense_Mutation | | c.1945N>A | p.Val649Ile | p.V649I | Q8TCS8 | protein_coding | tolerated(0.64) | benign(0.005) | TCGA-BH-A203-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PNPT1 | SNV | Missense_Mutation | rs143022417 | c.839C>T | p.Ser280Leu | p.S280L | Q8TCS8 | protein_coding | tolerated(0.31) | benign(0.005) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNPT1 | SNV | Missense_Mutation | novel | c.596A>G | p.Glu199Gly | p.E199G | Q8TCS8 | protein_coding | deleterious(0.05) | benign(0.119) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNPT1 | SNV | Missense_Mutation | novel | c.2036N>C | p.Gly679Ala | p.G679A | Q8TCS8 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PNPT1 | SNV | Missense_Mutation | novel | c.1535G>C | p.Gly512Ala | p.G512A | Q8TCS8 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-VS-A9UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |