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Gene: NPL |
Gene summary for NPL |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NPL | Gene ID | 80896 |
| Gene name | N-acetylneuraminate pyruvate lyase | |
| Gene Alias | C112 | |
| Cytomap | 1q25.3 | |
| Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | Q9BXD5 |
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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 |
| 80896 | NPL | LZE4T | Human | Esophagus | ESCC | 4.81e-15 | 4.73e-01 | 0.0811 |
| 80896 | NPL | LZE8T | Human | Esophagus | ESCC | 4.10e-06 | 1.99e-01 | 0.067 |
| 80896 | NPL | LZE24T | Human | Esophagus | ESCC | 2.30e-04 | 1.92e-01 | 0.0596 |
| 80896 | NPL | LZE21T | Human | Esophagus | ESCC | 3.18e-04 | 3.74e-01 | 0.0655 |
| 80896 | NPL | P1T-E | Human | Esophagus | ESCC | 2.73e-02 | 1.70e-01 | 0.0875 |
| 80896 | NPL | P2T-E | Human | Esophagus | ESCC | 1.41e-19 | 4.65e-01 | 0.1177 |
| 80896 | NPL | P4T-E | Human | Esophagus | ESCC | 5.71e-11 | 3.18e-01 | 0.1323 |
| 80896 | NPL | P5T-E | Human | Esophagus | ESCC | 6.56e-03 | 5.02e-03 | 0.1327 |
| 80896 | NPL | P8T-E | Human | Esophagus | ESCC | 1.42e-07 | 3.07e-02 | 0.0889 |
| 80896 | NPL | P9T-E | Human | Esophagus | ESCC | 9.28e-20 | 4.77e-01 | 0.1131 |
| 80896 | NPL | P11T-E | Human | Esophagus | ESCC | 2.23e-09 | 2.74e-01 | 0.1426 |
| 80896 | NPL | P15T-E | Human | Esophagus | ESCC | 4.75e-07 | 1.18e-01 | 0.1149 |
| 80896 | NPL | P20T-E | Human | Esophagus | ESCC | 8.76e-18 | 4.79e-01 | 0.1124 |
| 80896 | NPL | P21T-E | Human | Esophagus | ESCC | 1.45e-02 | 3.59e-02 | 0.1617 |
| 80896 | NPL | P22T-E | Human | Esophagus | ESCC | 7.73e-16 | 2.69e-01 | 0.1236 |
| 80896 | NPL | P23T-E | Human | Esophagus | ESCC | 1.37e-17 | 6.08e-01 | 0.108 |
| 80896 | NPL | P24T-E | Human | Esophagus | ESCC | 4.29e-05 | 1.29e-01 | 0.1287 |
| 80896 | NPL | P26T-E | Human | Esophagus | ESCC | 5.25e-20 | 5.07e-01 | 0.1276 |
| 80896 | NPL | P27T-E | Human | Esophagus | ESCC | 8.46e-10 | 1.97e-01 | 0.1055 |
| 80896 | NPL | P28T-E | Human | Esophagus | ESCC | 9.65e-13 | 3.04e-01 | 0.1149 |
| Page: 1 2 3 4 |
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:190351314 | Esophagus | ESCC | endoplasmic reticulum to cytosol transport | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
| GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
| GO:000275313 | Esophagus | ESCC | cytoplasmic pattern recognition receptor signaling pathway | 41/8552 | 60/18723 | 3.25e-04 | 1.91e-03 | 41 |
| GO:00507775 | Esophagus | ESCC | negative regulation of immune response | 112/8552 | 194/18723 | 4.67e-04 | 2.62e-03 | 112 |
| GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
| GO:00506884 | Esophagus | ESCC | regulation of defense response to virus | 45/8552 | 69/18723 | 8.26e-04 | 4.27e-03 | 45 |
| GO:000038119 | Esophagus | ESCC | regulation of alternative mRNA splicing, via spliceosome | 40/8552 | 60/18723 | 8.30e-04 | 4.28e-03 | 40 |
| GO:000268316 | Esophagus | ESCC | negative regulation of immune system process | 231/8552 | 434/18723 | 8.48e-04 | 4.36e-03 | 231 |
| GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
| GO:19011362 | Esophagus | ESCC | carbohydrate derivative catabolic process | 99/8552 | 172/18723 | 1.11e-03 | 5.54e-03 | 99 |
| GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
| GO:00108884 | Esophagus | ESCC | negative regulation of lipid storage | 18/8552 | 23/18723 | 1.50e-03 | 7.06e-03 | 18 |
| GO:000669211 | Esophagus | ESCC | prostanoid metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
| GO:000669311 | Esophagus | ESCC | prostaglandin metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
| GO:00395313 | Esophagus | ESCC | regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway | 18/8552 | 24/18723 | 3.43e-03 | 1.41e-02 | 18 |
| GO:00506871 | Esophagus | ESCC | negative regulation of defense response to virus | 18/8552 | 24/18723 | 3.43e-03 | 1.41e-02 | 18 |
| GO:190288220 | Esophagus | ESCC | regulation of response to oxidative stress | 58/8552 | 98/18723 | 4.86e-03 | 1.88e-02 | 58 |
| GO:00108836 | Esophagus | ESCC | regulation of lipid storage | 36/8552 | 57/18723 | 5.87e-03 | 2.17e-02 | 36 |
| GO:00395355 | Esophagus | ESCC | regulation of RIG-I signaling pathway | 15/8552 | 20/18723 | 7.60e-03 | 2.71e-02 | 15 |
| GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa005202 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
| hsa0052011 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
| hsa00520 | Oral cavity | OSCC | Amino sugar and nucleotide sugar metabolism | 34/3704 | 49/8465 | 2.48e-04 | 8.08e-04 | 4.11e-04 | 34 |
| hsa005201 | Oral cavity | OSCC | Amino sugar and nucleotide sugar metabolism | 34/3704 | 49/8465 | 2.48e-04 | 8.08e-04 | 4.11e-04 | 34 |
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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 |
| NPL | SNV | Missense_Mutation | novel | c.225N>C | p.Lys75Asn | p.K75N | Q9BXD5 | protein_coding | deleterious(0.01) | possibly_damaging(0.622) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| NPL | insertion | Frame_Shift_Ins | novel | c.677dupA | p.Thr227AspfsTer9 | p.T227Dfs*9 | Q9BXD5 | protein_coding | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| NPL | SNV | Missense_Mutation | c.359C>T | p.Thr120Ile | p.T120I | Q9BXD5 | protein_coding | deleterious(0.01) | possibly_damaging(0.541) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| NPL | insertion | Frame_Shift_Ins | novel | c.677dupA | p.Thr227AspfsTer9 | p.T227Dfs*9 | Q9BXD5 | protein_coding | TCGA-EK-A2R9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
| NPL | SNV | Missense_Mutation | c.883N>G | p.Ser295Gly | p.S295G | Q9BXD5 | protein_coding | tolerated(0.26) | benign(0.001) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
| NPL | SNV | Missense_Mutation | novel | c.190C>T | p.Arg64Cys | p.R64C | Q9BXD5 | protein_coding | deleterious(0.01) | benign(0) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| NPL | SNV | Missense_Mutation | rs780412696 | c.569N>A | p.Arg190His | p.R190H | Q9BXD5 | protein_coding | tolerated(0.43) | benign(0.001) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| NPL | SNV | Missense_Mutation | novel | c.920N>A | p.Ser307Tyr | p.S307Y | Q9BXD5 | protein_coding | deleterious(0.04) | benign(0.058) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| NPL | SNV | Missense_Mutation | rs780412696 | c.569N>A | p.Arg190His | p.R190H | Q9BXD5 | protein_coding | tolerated(0.43) | benign(0.001) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| NPL | SNV | Missense_Mutation | rs139205081 | c.338N>T | p.Pro113Leu | p.P113L | Q9BXD5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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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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