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Gene: TOP1MT |
Gene summary for TOP1MT |
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Gene information | Species | Human | Gene symbol | TOP1MT | Gene ID | 116447 |
Gene name | DNA topoisomerase I mitochondrial | |
Gene Alias | TOP1MT | |
Cytomap | 8q24.3 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q969P6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
116447 | TOP1MT | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.58e-04 | 1.62e-01 | 0.0155 |
116447 | TOP1MT | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.54e-02 | 3.76e-01 | 0.0216 |
116447 | TOP1MT | HTA11_347_2000001011 | Human | Colorectum | AD | 2.23e-04 | 1.75e-01 | -0.1954 |
116447 | TOP1MT | HTA11_3361_2000001011 | Human | Colorectum | AD | 4.45e-02 | 1.92e-01 | -0.1207 |
116447 | TOP1MT | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.57e-10 | 3.39e-01 | -0.059 |
116447 | TOP1MT | HTA11_546_2000001011 | Human | Colorectum | AD | 5.66e-03 | 2.53e-01 | -0.0842 |
116447 | TOP1MT | HTA11_866_3004761011 | Human | Colorectum | AD | 1.09e-12 | 3.69e-01 | 0.096 |
116447 | TOP1MT | HTA11_8622_2000001021 | Human | Colorectum | SER | 6.37e-03 | 2.62e-01 | 0.0528 |
116447 | TOP1MT | HTA11_7663_2000001011 | Human | Colorectum | SER | 1.52e-02 | 3.42e-01 | 0.0131 |
116447 | TOP1MT | HTA11_10711_2000001011 | Human | Colorectum | AD | 6.68e-08 | 3.64e-01 | 0.0338 |
116447 | TOP1MT | HTA11_7696_3000711011 | Human | Colorectum | AD | 7.58e-16 | 4.87e-01 | 0.0674 |
116447 | TOP1MT | HTA11_11156_2000001011 | Human | Colorectum | AD | 5.83e-03 | 4.69e-01 | 0.0397 |
116447 | TOP1MT | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.63e-08 | 3.43e-01 | 0.0588 |
116447 | TOP1MT | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.47e-11 | 3.44e-01 | 0.294 |
116447 | TOP1MT | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.39e-03 | 2.75e-01 | 0.281 |
116447 | TOP1MT | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.16e-29 | 8.38e-01 | 0.3859 |
116447 | TOP1MT | HTA11_99999973899_84307 | Human | Colorectum | MSS | 6.94e-11 | 5.20e-01 | 0.2585 |
116447 | TOP1MT | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.36e-17 | 5.35e-01 | 0.3005 |
116447 | TOP1MT | LZE4T | Human | Esophagus | ESCC | 4.76e-11 | 3.15e-01 | 0.0811 |
116447 | TOP1MT | LZE8T | Human | Esophagus | ESCC | 9.71e-04 | 1.12e-01 | 0.067 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:000626011 | Oral cavity | LP | DNA replication | 97/4623 | 260/18723 | 3.67e-06 | 7.75e-05 | 97 |
GO:000626012 | Skin | cSCC | DNA replication | 106/4864 | 260/18723 | 1.18e-07 | 2.77e-06 | 106 |
GO:00711031 | Skin | cSCC | DNA conformation change | 96/4864 | 290/18723 | 3.87e-03 | 2.07e-02 | 96 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
TOP1MT | SNV | Missense_Mutation | rs776857154 | c.1327C>T | p.Arg443Cys | p.R443C | Q969P6 | protein_coding | tolerated(0.06) | benign(0.013) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | c.1574N>A | p.Arg525Gln | p.R525Q | Q969P6 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
TOP1MT | SNV | Missense_Mutation | novel | c.1678C>A | p.Leu560Met | p.L560M | Q969P6 | protein_coding | deleterious(0.03) | probably_damaging(0.961) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | novel | c.1393C>T | p.Leu465Phe | p.L465F | Q969P6 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | novel | c.157N>C | p.Trp53Arg | p.W53R | Q969P6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
TOP1MT | SNV | Missense_Mutation | rs144092447 | c.880C>T | p.Arg294Cys | p.R294C | Q969P6 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | rs770598812 | c.1384N>A | p.Val462Met | p.V462M | Q969P6 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | c.1511N>T | p.Ala504Val | p.A504V | Q969P6 | protein_coding | deleterious(0.03) | possibly_damaging(0.563) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
TOP1MT | SNV | Missense_Mutation | rs780725810 | c.448N>A | p.Ala150Thr | p.A150T | Q969P6 | protein_coding | deleterious(0.01) | possibly_damaging(0.479) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TOP1MT | SNV | Missense_Mutation | rs371289275 | c.1189N>T | p.Arg397Trp | p.R397W | Q969P6 | protein_coding | deleterious(0) | possibly_damaging(0.849) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | TOPOTECAN | TOPOTECAN | ||
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | LE-SN38 | |||
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | PEG-SN38 | |||
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL1607 | TOPOTECAN HYDROCHLORIDE | |
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | IRINOTECAN | IRINOTECAN | ||
116447 | TOP1MT | DRUGGABLE GENOME, ENZYME | PEG-IRINOTECAN |
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