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Gene: PNPT1 |
Gene summary for PNPT1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PNPT1 | Gene ID | 87178 |
| Gene name | polyribonucleotide nucleotidyltransferase 1 | |
| Gene Alias | COXPD13 | |
| Cytomap | 2p16.1 | |
| Gene Type | protein-coding | GO ID | GO:0000957 | UniProtAcc | Q8TCS8 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 87178 | PNPT1 | LZE2T | Human | Esophagus | ESCC | 1.87e-03 | 4.84e-01 | 0.082 |
| 87178 | PNPT1 | LZE4T | Human | Esophagus | ESCC | 2.90e-05 | 2.30e-01 | 0.0811 |
| 87178 | PNPT1 | LZE7T | Human | Esophagus | ESCC | 5.70e-06 | 5.14e-01 | 0.0667 |
| 87178 | PNPT1 | LZE8T | Human | Esophagus | ESCC | 1.15e-04 | 1.23e-01 | 0.067 |
| 87178 | PNPT1 | LZE22T | Human | Esophagus | ESCC | 3.27e-02 | 3.88e-01 | 0.068 |
| 87178 | PNPT1 | LZE24T | Human | Esophagus | ESCC | 6.83e-18 | 4.34e-01 | 0.0596 |
| 87178 | PNPT1 | LZE21T | Human | Esophagus | ESCC | 3.13e-04 | 2.66e-01 | 0.0655 |
| 87178 | PNPT1 | P1T-E | Human | Esophagus | ESCC | 1.94e-09 | 4.78e-01 | 0.0875 |
| 87178 | PNPT1 | P2T-E | Human | Esophagus | ESCC | 3.45e-43 | 8.73e-01 | 0.1177 |
| 87178 | PNPT1 | P4T-E | Human | Esophagus | ESCC | 3.59e-21 | 5.12e-01 | 0.1323 |
| 87178 | PNPT1 | P5T-E | Human | Esophagus | ESCC | 3.99e-15 | 3.81e-01 | 0.1327 |
| 87178 | PNPT1 | P8T-E | Human | Esophagus | ESCC | 1.63e-12 | 2.35e-01 | 0.0889 |
| 87178 | PNPT1 | P9T-E | Human | Esophagus | ESCC | 6.25e-11 | 3.35e-01 | 0.1131 |
| 87178 | PNPT1 | P10T-E | Human | Esophagus | ESCC | 1.77e-24 | 3.94e-01 | 0.116 |
| 87178 | PNPT1 | P11T-E | Human | Esophagus | ESCC | 1.35e-11 | 6.28e-01 | 0.1426 |
| 87178 | PNPT1 | P12T-E | Human | Esophagus | ESCC | 1.01e-27 | 5.62e-01 | 0.1122 |
| 87178 | PNPT1 | P15T-E | Human | Esophagus | ESCC | 1.55e-26 | 5.84e-01 | 0.1149 |
| 87178 | PNPT1 | P16T-E | Human | Esophagus | ESCC | 2.22e-33 | 5.51e-01 | 0.1153 |
| 87178 | PNPT1 | P17T-E | Human | Esophagus | ESCC | 2.17e-05 | 3.65e-01 | 0.1278 |
| 87178 | PNPT1 | P19T-E | Human | Esophagus | ESCC | 1.74e-04 | 4.94e-01 | 0.1662 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:005065822 | Thyroid | ATC | RNA transport | 100/6293 | 163/18723 | 3.39e-13 | 1.56e-11 | 100 |
| GO:190136124 | Thyroid | ATC | organic cyclic compound catabolic process | 238/6293 | 495/18723 | 1.12e-11 | 4.12e-10 | 238 |
| GO:190331324 | Thyroid | ATC | positive regulation of mRNA metabolic process | 75/6293 | 118/18723 | 2.57e-11 | 8.84e-10 | 75 |
| GO:001593122 | Thyroid | ATC | nucleobase-containing compound transport | 122/6293 | 222/18723 | 4.30e-11 | 1.41e-09 | 122 |
| GO:004873233 | Thyroid | ATC | gland development | 210/6293 | 436/18723 | 1.50e-10 | 4.59e-09 | 210 |
| GO:004348725 | Thyroid | ATC | regulation of RNA stability | 97/6293 | 170/18723 | 2.68e-10 | 7.70e-09 | 97 |
| GO:006101325 | Thyroid | ATC | regulation of mRNA catabolic process | 95/6293 | 166/18723 | 3.27e-10 | 9.16e-09 | 95 |
| GO:004348826 | Thyroid | ATC | regulation of mRNA stability | 90/6293 | 158/18723 | 1.31e-09 | 3.30e-08 | 90 |
| GO:000188927 | Thyroid | ATC | liver development | 85/6293 | 147/18723 | 1.37e-09 | 3.43e-08 | 85 |
| GO:006100827 | Thyroid | ATC | hepaticobiliary system development | 86/6293 | 150/18723 | 1.96e-09 | 4.78e-08 | 86 |
| GO:000756829 | Thyroid | ATC | aging | 166/6293 | 339/18723 | 2.79e-09 | 6.60e-08 | 166 |
| GO:004343428 | Thyroid | ATC | response to peptide hormone | 192/6293 | 414/18723 | 3.63e-08 | 6.70e-07 | 192 |
| GO:0061157110 | Thyroid | ATC | mRNA destabilization | 52/6293 | 84/18723 | 1.01e-07 | 1.70e-06 | 52 |
| GO:0061014110 | Thyroid | ATC | positive regulation of mRNA catabolic process | 53/6293 | 87/18723 | 1.63e-07 | 2.61e-06 | 53 |
| GO:0050779110 | Thyroid | ATC | RNA destabilization | 53/6293 | 88/18723 | 2.75e-07 | 4.20e-06 | 53 |
| GO:003112312 | Thyroid | ATC | RNA 3'-end processing | 65/6293 | 116/18723 | 5.58e-07 | 7.93e-06 | 65 |
| GO:000756924 | Thyroid | ATC | cell aging | 72/6293 | 132/18723 | 5.77e-07 | 8.15e-06 | 72 |
| GO:003112413 | Thyroid | ATC | mRNA 3'-end processing | 40/6293 | 62/18723 | 6.25e-07 | 8.65e-06 | 40 |
| GO:199054226 | Thyroid | ATC | mitochondrial transmembrane transport | 57/6293 | 102/18723 | 3.05e-06 | 3.49e-05 | 57 |
| GO:004346726 | Thyroid | ATC | regulation of generation of precursor metabolites and energy | 68/6293 | 130/18723 | 8.19e-06 | 8.27e-05 | 68 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0301824 | Esophagus | ESCC | RNA degradation | 62/4205 | 79/8465 | 1.18e-07 | 9.39e-07 | 4.81e-07 | 62 |
| hsa0301834 | Esophagus | ESCC | RNA degradation | 62/4205 | 79/8465 | 1.18e-07 | 9.39e-07 | 4.81e-07 | 62 |
| hsa030182 | Liver | HCC | RNA degradation | 58/4020 | 79/8465 | 2.29e-06 | 2.19e-05 | 1.22e-05 | 58 |
| hsa030183 | Liver | HCC | RNA degradation | 58/4020 | 79/8465 | 2.29e-06 | 2.19e-05 | 1.22e-05 | 58 |
| hsa030189 | Oral cavity | OSCC | RNA degradation | 59/3704 | 79/8465 | 2.05e-08 | 1.91e-07 | 9.70e-08 | 59 |
| hsa0301814 | Oral cavity | OSCC | RNA degradation | 59/3704 | 79/8465 | 2.05e-08 | 1.91e-07 | 9.70e-08 | 59 |
| hsa0301823 | Oral cavity | LP | RNA degradation | 39/2418 | 79/8465 | 6.98e-05 | 4.38e-04 | 2.83e-04 | 39 |
| hsa0301833 | Oral cavity | LP | RNA degradation | 39/2418 | 79/8465 | 6.98e-05 | 4.38e-04 | 2.83e-04 | 39 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| Page: 1 2 3 4 5 6 7 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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