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Gene: PNMA1 |
Gene summary for PNMA1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PNMA1 | Gene ID | 9240 |
| Gene name | PNMA family member 1 | |
| Gene Alias | MA1 | |
| Cytomap | 14q24.3 | |
| Gene Type | protein-coding | GO ID | GO:0002376 | UniProtAcc | Q8ND90 |
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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 |
| 9240 | PNMA1 | LZE20T | Human | Esophagus | ESCC | 4.29e-02 | 1.56e-01 | 0.0662 |
| 9240 | PNMA1 | LZE24T | Human | Esophagus | ESCC | 9.92e-10 | 3.13e-01 | 0.0596 |
| 9240 | PNMA1 | P2T-E | Human | Esophagus | ESCC | 9.46e-13 | 2.22e-01 | 0.1177 |
| 9240 | PNMA1 | P4T-E | Human | Esophagus | ESCC | 7.62e-13 | 4.18e-01 | 0.1323 |
| 9240 | PNMA1 | P5T-E | Human | Esophagus | ESCC | 1.61e-12 | 2.43e-01 | 0.1327 |
| 9240 | PNMA1 | P8T-E | Human | Esophagus | ESCC | 1.18e-19 | 3.26e-01 | 0.0889 |
| 9240 | PNMA1 | P9T-E | Human | Esophagus | ESCC | 3.30e-09 | 1.34e-01 | 0.1131 |
| 9240 | PNMA1 | P10T-E | Human | Esophagus | ESCC | 1.63e-19 | 3.74e-01 | 0.116 |
| 9240 | PNMA1 | P11T-E | Human | Esophagus | ESCC | 2.97e-13 | 5.88e-01 | 0.1426 |
| 9240 | PNMA1 | P12T-E | Human | Esophagus | ESCC | 3.50e-52 | 9.00e-01 | 0.1122 |
| 9240 | PNMA1 | P15T-E | Human | Esophagus | ESCC | 3.94e-32 | 7.41e-01 | 0.1149 |
| 9240 | PNMA1 | P16T-E | Human | Esophagus | ESCC | 4.71e-31 | 5.52e-01 | 0.1153 |
| 9240 | PNMA1 | P17T-E | Human | Esophagus | ESCC | 1.96e-08 | 5.56e-01 | 0.1278 |
| 9240 | PNMA1 | P19T-E | Human | Esophagus | ESCC | 1.44e-10 | 6.80e-01 | 0.1662 |
| 9240 | PNMA1 | P20T-E | Human | Esophagus | ESCC | 1.52e-05 | 1.42e-01 | 0.1124 |
| 9240 | PNMA1 | P21T-E | Human | Esophagus | ESCC | 6.32e-15 | 3.08e-01 | 0.1617 |
| 9240 | PNMA1 | P22T-E | Human | Esophagus | ESCC | 2.34e-07 | 1.48e-01 | 0.1236 |
| 9240 | PNMA1 | P23T-E | Human | Esophagus | ESCC | 2.57e-10 | 1.80e-01 | 0.108 |
| 9240 | PNMA1 | P24T-E | Human | Esophagus | ESCC | 5.95e-27 | 5.65e-01 | 0.1287 |
| 9240 | PNMA1 | P26T-E | Human | Esophagus | ESCC | 9.59e-10 | 2.28e-01 | 0.1276 |
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| 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 |
| ∗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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| PNMA1 | SNV | Missense_Mutation | c.264N>T | p.Trp88Cys | p.W88C | Q8ND90 | protein_coding | deleterious(0.05) | probably_damaging(1) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PNMA1 | SNV | Missense_Mutation | c.986N>A | p.Arg329His | p.R329H | Q8ND90 | protein_coding | deleterious(0.02) | probably_damaging(0.957) | TCGA-B5-A11Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PNMA1 | SNV | Missense_Mutation | novel | c.110N>C | p.Glu37Ala | p.E37A | Q8ND90 | protein_coding | tolerated(0.15) | benign(0.395) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| PNMA1 | SNV | Missense_Mutation | novel | c.300A>T | p.Glu100Asp | p.E100D | Q8ND90 | protein_coding | deleterious(0.04) | benign(0.022) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PNMA1 | SNV | Missense_Mutation | novel | c.535C>T | p.Pro179Ser | p.P179S | Q8ND90 | protein_coding | tolerated(0.91) | benign(0) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PNMA1 | SNV | Missense_Mutation | novel | c.164N>G | p.Phe55Cys | p.F55C | Q8ND90 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PNMA1 | SNV | Missense_Mutation | novel | c.347N>C | p.Val116Ala | p.V116A | Q8ND90 | protein_coding | deleterious(0.01) | possibly_damaging(0.492) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
| PNMA1 | SNV | Missense_Mutation | c.248N>A | p.Gly83Asp | p.G83D | Q8ND90 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-D1-A17H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PNMA1 | SNV | Missense_Mutation | novel | c.820A>C | p.Lys274Gln | p.K274Q | Q8ND90 | protein_coding | deleterious(0.01) | possibly_damaging(0.732) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PNMA1 | SNV | Missense_Mutation | novel | c.781N>G | p.Leu261Val | p.L261V | Q8ND90 | protein_coding | tolerated(0.76) | benign(0.116) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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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