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Gene: TERT |
Gene summary for TERT |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TERT | Gene ID | 7015 |
| Gene name | telomerase reverse transcriptase | |
| Gene Alias | CMM9 | |
| Cytomap | 5p15.33 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | O14746 |
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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 |
| 7015 | TERT | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 3.58e-26 | 7.62e-01 | -0.0166 |
| 7015 | TERT | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 2.45e-28 | 7.66e-01 | -0.0132 |
| 7015 | TERT | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 6.10e-27 | 7.19e-01 | -0.013 |
| 7015 | TERT | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 9.48e-21 | 6.37e-01 | -0.0121 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:20012338 | Lung | IAC | regulation of apoptotic signaling pathway | 82/2061 | 356/18723 | 4.85e-11 | 1.44e-08 | 82 |
| GO:00160556 | Lung | IAC | Wnt signaling pathway | 95/2061 | 444/18723 | 1.13e-10 | 2.80e-08 | 95 |
| GO:01987386 | Lung | IAC | cell-cell signaling by wnt | 95/2061 | 446/18723 | 1.46e-10 | 3.48e-08 | 95 |
| GO:00301116 | Lung | IAC | regulation of Wnt signaling pathway | 74/2061 | 328/18723 | 1.14e-09 | 2.05e-07 | 74 |
| GO:00447723 | Lung | IAC | mitotic cell cycle phase transition | 85/2061 | 424/18723 | 2.69e-08 | 3.20e-06 | 85 |
| GO:20012348 | Lung | IAC | negative regulation of apoptotic signaling pathway | 52/2061 | 224/18723 | 1.25e-07 | 1.11e-05 | 52 |
| GO:00362947 | Lung | IAC | cellular response to decreased oxygen levels | 41/2061 | 161/18723 | 1.92e-07 | 1.59e-05 | 41 |
| GO:00714537 | Lung | IAC | cellular response to oxygen levels | 43/2061 | 177/18723 | 4.03e-07 | 2.82e-05 | 43 |
| GO:00316478 | Lung | IAC | regulation of protein stability | 62/2061 | 298/18723 | 5.37e-07 | 3.32e-05 | 62 |
| GO:00714564 | Lung | IAC | cellular response to hypoxia | 38/2061 | 151/18723 | 7.33e-07 | 4.14e-05 | 38 |
| GO:20012368 | Lung | IAC | regulation of extrinsic apoptotic signaling pathway | 38/2061 | 151/18723 | 7.33e-07 | 4.14e-05 | 38 |
| GO:00362938 | Lung | IAC | response to decreased oxygen levels | 64/2061 | 322/18723 | 1.87e-06 | 8.87e-05 | 64 |
| GO:00609646 | Lung | IAC | regulation of gene silencing by miRNA | 18/2061 | 49/18723 | 2.10e-06 | 9.45e-05 | 18 |
| GO:00616147 | Lung | IAC | pri-miRNA transcription by RNA polymerase II | 19/2061 | 55/18723 | 3.20e-06 | 1.38e-04 | 19 |
| GO:00016668 | Lung | IAC | response to hypoxia | 61/2061 | 307/18723 | 3.26e-06 | 1.39e-04 | 61 |
| GO:00971918 | Lung | IAC | extrinsic apoptotic signaling pathway | 47/2061 | 219/18723 | 5.11e-06 | 2.03e-04 | 47 |
| GO:00351965 | Lung | IAC | production of miRNAs involved in gene silencing by miRNA | 18/2061 | 52/18723 | 5.60e-06 | 2.13e-04 | 18 |
| GO:00601475 | Lung | IAC | regulation of posttranscriptional gene silencing | 18/2061 | 52/18723 | 5.60e-06 | 2.13e-04 | 18 |
| GO:00000823 | Lung | IAC | G1/S transition of mitotic cell cycle | 46/2061 | 214/18723 | 6.13e-06 | 2.29e-04 | 46 |
| GO:00709978 | Lung | IAC | neuron death | 68/2061 | 361/18723 | 6.32e-06 | 2.32e-04 | 68 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa051656 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
| hsa052259 | Lung | IAC | Hepatocellular carcinoma | 33/1053 | 168/8465 | 4.77e-03 | 2.15e-02 | 1.43e-02 | 33 |
| hsa0516511 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
| hsa0522512 | Lung | IAC | Hepatocellular carcinoma | 33/1053 | 168/8465 | 4.77e-03 | 2.15e-02 | 1.43e-02 | 33 |
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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 |
| TERT | SNV | Missense_Mutation | c.2929N>C | p.Val977Leu | p.V977L | O14746 | protein_coding | tolerated(0.05) | possibly_damaging(0.863) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
| TERT | SNV | Missense_Mutation | c.2633N>A | p.Thr878Asn | p.T878N | O14746 | protein_coding | tolerated(0.21) | benign(0.178) | TCGA-D8-A3Z6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD | |
| TERT | SNV | Missense_Mutation | rs374968697 | c.3103N>A | p.Val1035Ile | p.V1035I | O14746 | protein_coding | tolerated(1) | benign(0.028) | TCGA-WT-AB41-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| TERT | insertion | Frame_Shift_Ins | novel | c.1704_1705insA | p.Gln569ThrfsTer60 | p.Q569Tfs*60 | O14746 | protein_coding | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| TERT | insertion | Frame_Shift_Ins | novel | c.1702_1703insGTCCCGCCCAGGCTGACTGTGGAGGGCT | p.Phe568CysfsTer70 | p.F568Cfs*70 | O14746 | protein_coding | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| TERT | deletion | Frame_Shift_Del | novel | c.2465delN | p.Gly822AlafsTer52 | p.G822Afs*52 | O14746 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| TERT | SNV | Missense_Mutation | novel | c.1562G>A | p.Arg521His | p.R521H | O14746 | protein_coding | tolerated(0.07) | benign(0.284) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| TERT | SNV | Missense_Mutation | novel | c.1880N>A | p.Pro627His | p.P627H | O14746 | protein_coding | deleterious(0.03) | possibly_damaging(0.808) | TCGA-C5-A7CK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| TERT | SNV | Missense_Mutation | novel | c.1466N>A | p.Arg489Lys | p.R489K | O14746 | protein_coding | tolerated(1) | benign(0.039) | TCGA-EK-A2PI-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| TERT | SNV | Missense_Mutation | novel | c.1553N>T | p.Ala518Val | p.A518V | O14746 | protein_coding | tolerated(0.28) | benign(0.046) | TCGA-MA-AA3Z-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 |
| 7015 | TERT | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, ENZYME, RNA DIRECTED DNA POLYMERASE, DRUG RESISTANCE | DC/I540/KLH vaccine | |||
| 7015 | TERT | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, ENZYME, RNA DIRECTED DNA POLYMERASE, DRUG RESISTANCE | 2,7-BIS[3-(PROPYLAMINO)PROPIONAMIDO]ANTHRAQUINONE | CHEMBL481160 | 18571928 |
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