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Gene: POLRMT |
Gene summary for POLRMT |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | POLRMT | Gene ID | 5442 |
| Gene name | RNA polymerase mitochondrial | |
| Gene Alias | APOLMT | |
| Cytomap | 19p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0000959 | UniProtAcc | O00411 |
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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 |
| 5442 | POLRMT | LZE5T | Human | Esophagus | ESCC | 1.54e-04 | 2.46e-01 | 0.0514 |
| 5442 | POLRMT | LZE7T | Human | Esophagus | ESCC | 6.33e-03 | 1.24e-01 | 0.0667 |
| 5442 | POLRMT | LZE8T | Human | Esophagus | ESCC | 4.41e-02 | 7.57e-02 | 0.067 |
| 5442 | POLRMT | LZE24T | Human | Esophagus | ESCC | 2.42e-13 | 2.51e-01 | 0.0596 |
| 5442 | POLRMT | P1T-E | Human | Esophagus | ESCC | 1.64e-05 | 2.25e-01 | 0.0875 |
| 5442 | POLRMT | P2T-E | Human | Esophagus | ESCC | 3.50e-02 | 6.12e-02 | 0.1177 |
| 5442 | POLRMT | P4T-E | Human | Esophagus | ESCC | 2.81e-07 | 1.36e-01 | 0.1323 |
| 5442 | POLRMT | P5T-E | Human | Esophagus | ESCC | 3.75e-03 | 7.30e-02 | 0.1327 |
| 5442 | POLRMT | P8T-E | Human | Esophagus | ESCC | 1.78e-03 | 7.67e-02 | 0.0889 |
| 5442 | POLRMT | P9T-E | Human | Esophagus | ESCC | 9.50e-13 | 2.19e-01 | 0.1131 |
| 5442 | POLRMT | P10T-E | Human | Esophagus | ESCC | 1.76e-12 | 1.95e-01 | 0.116 |
| 5442 | POLRMT | P11T-E | Human | Esophagus | ESCC | 6.08e-06 | 2.03e-01 | 0.1426 |
| 5442 | POLRMT | P12T-E | Human | Esophagus | ESCC | 1.13e-16 | 2.75e-01 | 0.1122 |
| 5442 | POLRMT | P15T-E | Human | Esophagus | ESCC | 1.67e-14 | 2.61e-01 | 0.1149 |
| 5442 | POLRMT | P16T-E | Human | Esophagus | ESCC | 2.96e-14 | 1.65e-01 | 0.1153 |
| 5442 | POLRMT | P17T-E | Human | Esophagus | ESCC | 2.26e-13 | 3.81e-01 | 0.1278 |
| 5442 | POLRMT | P19T-E | Human | Esophagus | ESCC | 5.57e-05 | 2.49e-01 | 0.1662 |
| 5442 | POLRMT | P20T-E | Human | Esophagus | ESCC | 3.75e-11 | 2.28e-01 | 0.1124 |
| 5442 | POLRMT | P21T-E | Human | Esophagus | ESCC | 2.05e-07 | 1.37e-01 | 0.1617 |
| 5442 | POLRMT | P22T-E | Human | Esophagus | ESCC | 4.41e-07 | 1.15e-01 | 0.1236 |
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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 | ||
| 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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:014005313 | Esophagus | ESCC | mitochondrial gene expression | 93/8552 | 108/18723 | 1.96e-18 | 2.03e-16 | 93 |
| GO:00009592 | Esophagus | ESCC | mitochondrial RNA metabolic process | 39/8552 | 49/18723 | 1.20e-06 | 1.49e-05 | 39 |
| GO:01400531 | Liver | HCC | mitochondrial gene expression | 82/7958 | 108/18723 | 1.49e-12 | 7.20e-11 | 82 |
| GO:0000959 | Liver | HCC | mitochondrial RNA metabolic process | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
| GO:01400536 | Thyroid | PTC | mitochondrial gene expression | 51/5968 | 108/18723 | 6.04e-04 | 3.83e-03 | 51 |
| GO:014005314 | Thyroid | ATC | mitochondrial gene expression | 51/6293 | 108/18723 | 2.26e-03 | 1.06e-02 | 51 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
| POLRMT | SNV | Missense_Mutation | novel | c.722N>A | p.Leu241His | p.L241H | O00411 | protein_coding | tolerated(0.13) | probably_damaging(0.921) | TCGA-A7-A2KD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
| POLRMT | SNV | Missense_Mutation | c.3281N>T | p.Gly1094Val | p.G1094V | O00411 | protein_coding | deleterious(0.01) | possibly_damaging(0.579) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| POLRMT | SNV | Missense_Mutation | novel | c.226G>A | p.Glu76Lys | p.E76K | O00411 | protein_coding | tolerated(0.09) | benign(0.24) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
| POLRMT | SNV | Missense_Mutation | novel | c.2681N>G | p.Thr894Arg | p.T894R | O00411 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| POLRMT | SNV | Missense_Mutation | rs771810687 | c.3310N>A | p.Gly1104Arg | p.G1104R | O00411 | protein_coding | tolerated(0.35) | benign(0.153) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
| POLRMT | SNV | Missense_Mutation | c.503N>A | p.Ser168Asn | p.S168N | O00411 | protein_coding | tolerated(0.41) | benign(0) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| POLRMT | SNV | Missense_Mutation | novel | c.2092N>A | p.Ala698Thr | p.A698T | O00411 | protein_coding | tolerated(0.23) | benign(0.124) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| POLRMT | SNV | Missense_Mutation | c.2542N>G | p.Leu848Val | p.L848V | O00411 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| POLRMT | SNV | Missense_Mutation | c.324N>C | p.Gln108His | p.Q108H | O00411 | protein_coding | deleterious(0.04) | benign(0) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| POLRMT | SNV | Missense_Mutation | novel | c.2903G>T | p.Arg968Met | p.R968M | O00411 | protein_coding | deleterious(0.05) | benign(0.145) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | 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 |
| 5442 | POLRMT | NA | 2',2'-DIFLUORODEOXYCYTIDINE 5'-TRIPHOSPHATE | 2',2'-DIFLUORODEOXYCYTIDINE 5'-TRIPHOSPHATE | 25667954 |
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