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Gene: EXT1 |
Gene summary for EXT1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EXT1 | Gene ID | 2131 |
| Gene name | exostosin glycosyltransferase 1 | |
| Gene Alias | EXT | |
| Cytomap | 8q24.11 | |
| Gene Type | protein-coding | GO ID | GO:0000271 | UniProtAcc | Q16394 |
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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 |
| 2131 | EXT1 | CA_HPV_1 | Human | Cervix | CC | 5.11e-04 | -1.08e-01 | 0.0264 |
| 2131 | EXT1 | N_HPV_1 | Human | Cervix | N_HPV | 2.26e-05 | -1.08e-01 | 0.0079 |
| 2131 | EXT1 | CCI_1 | Human | Cervix | CC | 1.40e-25 | 2.19e+00 | 0.528 |
| 2131 | EXT1 | CCI_2 | Human | Cervix | CC | 1.54e-21 | 3.95e+00 | 0.5249 |
| 2131 | EXT1 | CCI_3 | Human | Cervix | CC | 1.51e-34 | 2.17e+00 | 0.516 |
| 2131 | EXT1 | CCII_1 | Human | Cervix | CC | 2.23e-08 | 5.83e-01 | 0.3249 |
| 2131 | EXT1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.01e-21 | -6.82e-01 | 0.0155 |
| 2131 | EXT1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.40e-16 | -1.02e+00 | 0.0216 |
| 2131 | EXT1 | HTA11_78_2000001011 | Human | Colorectum | AD | 8.65e-09 | 6.64e-01 | -0.1088 |
| 2131 | EXT1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.04e-40 | 1.31e+00 | -0.1954 |
| 2131 | EXT1 | HTA11_411_2000001011 | Human | Colorectum | SER | 6.95e-07 | 7.34e-01 | -0.2602 |
| 2131 | EXT1 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.28e-16 | 8.93e-01 | -0.1526 |
| 2131 | EXT1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.75e-06 | 4.89e-01 | -0.1464 |
| 2131 | EXT1 | HTA11_866_2000001011 | Human | Colorectum | AD | 4.16e-05 | 5.42e-01 | -0.1001 |
| 2131 | EXT1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.05e-06 | 7.67e-01 | -0.059 |
| 2131 | EXT1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.07e-05 | 6.20e-01 | -0.1706 |
| 2131 | EXT1 | HTA11_546_2000001011 | Human | Colorectum | AD | 3.71e-03 | 4.10e-01 | -0.0842 |
| 2131 | EXT1 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.69e-21 | -7.72e-01 | 0.096 |
| 2131 | EXT1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.53e-07 | -8.80e-01 | 0.0451 |
| 2131 | EXT1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 9.98e-04 | -4.90e-01 | 0.0338 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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). |
| 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:004206010 | Cervix | CC | wound healing | 109/2311 | 422/18723 | 1.84e-14 | 1.57e-11 | 109 |
| GO:00085446 | Cervix | CC | epidermis development | 83/2311 | 324/18723 | 3.91e-11 | 8.54e-09 | 83 |
| GO:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
| GO:00160557 | Cervix | CC | Wnt signaling pathway | 98/2311 | 444/18723 | 4.82e-09 | 4.65e-07 | 98 |
| GO:01987387 | Cervix | CC | cell-cell signaling by wnt | 98/2311 | 446/18723 | 6.16e-09 | 5.58e-07 | 98 |
| GO:00071598 | Cervix | CC | leukocyte cell-cell adhesion | 85/2311 | 371/18723 | 8.27e-09 | 7.07e-07 | 85 |
| GO:00452169 | Cervix | CC | cell-cell junction organization | 53/2311 | 200/18723 | 3.83e-08 | 2.53e-06 | 53 |
| GO:001988210 | Cervix | CC | antigen processing and presentation | 32/2311 | 106/18723 | 8.61e-07 | 3.08e-05 | 32 |
| GO:00509007 | Cervix | CC | leukocyte migration | 78/2311 | 369/18723 | 1.09e-06 | 3.80e-05 | 78 |
| GO:004887210 | Cervix | CC | homeostasis of number of cells | 61/2311 | 272/18723 | 2.17e-06 | 6.55e-05 | 61 |
| GO:00600707 | Cervix | CC | canonical Wnt signaling pathway | 66/2311 | 303/18723 | 2.47e-06 | 7.35e-05 | 66 |
| GO:005087810 | Cervix | CC | regulation of body fluid levels | 78/2311 | 379/18723 | 3.20e-06 | 8.77e-05 | 78 |
| GO:00160498 | Cervix | CC | cell growth | 92/2311 | 482/18723 | 1.16e-05 | 2.49e-04 | 92 |
| GO:00615647 | Cervix | CC | axon development | 89/2311 | 467/18723 | 1.71e-05 | 3.27e-04 | 89 |
| GO:00346129 | Cervix | CC | response to tumor necrosis factor | 55/2311 | 253/18723 | 1.75e-05 | 3.32e-04 | 55 |
| GO:00713569 | Cervix | CC | cellular response to tumor necrosis factor | 51/2311 | 229/18723 | 1.75e-05 | 3.32e-04 | 51 |
| GO:004873210 | Cervix | CC | gland development | 84/2311 | 436/18723 | 1.93e-05 | 3.54e-04 | 84 |
| GO:00096158 | Cervix | CC | response to virus | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
| GO:00018949 | Cervix | CC | tissue homeostasis | 57/2311 | 268/18723 | 2.43e-05 | 4.21e-04 | 57 |
| GO:00093149 | Cervix | CC | response to radiation | 86/2311 | 456/18723 | 3.50e-05 | 5.63e-04 | 86 |
| 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 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 |
| 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 |
| EXT1 | SNV | Missense_Mutation | c.781N>G | p.Lys261Glu | p.K261E | Q16394 | protein_coding | tolerated(0.14) | possibly_damaging(0.627) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD | |
| EXT1 | SNV | Missense_Mutation | novel | c.119N>C | p.His40Pro | p.H40P | Q16394 | protein_coding | tolerated(0.29) | benign(0.007) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| EXT1 | SNV | Missense_Mutation | c.1024N>A | p.Leu342Ile | p.L342I | Q16394 | protein_coding | deleterious(0.02) | possibly_damaging(0.883) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| EXT1 | insertion | In_Frame_Ins | novel | c.807_808insTCTCACTGTCTAAAC | p.Lys269_Arg270insSerHisCysLeuAsn | p.K269_R270insSHCLN | Q16394 | protein_coding | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| EXT1 | insertion | Nonsense_Mutation | novel | c.805_806insTAAACTTTTTTTTTTTTTTTTAAATGTGGGCCTC | p.Lys269IlefsTer8 | p.K269Ifs*8 | Q16394 | protein_coding | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| EXT1 | SNV | Missense_Mutation | novel | c.1651N>G | p.Leu551Val | p.L551V | Q16394 | protein_coding | tolerated(0.1) | benign(0.099) | TCGA-VS-A8EB-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | PD |
| EXT1 | SNV | Missense_Mutation | c.793G>A | p.Val265Ile | p.V265I | Q16394 | protein_coding | tolerated(0.1) | benign(0.223) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EXT1 | SNV | Missense_Mutation | rs767492816 | c.1612N>A | p.Val538Ile | p.V538I | Q16394 | protein_coding | tolerated(0.23) | benign(0.386) | TCGA-A6-5656-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| EXT1 | SNV | Missense_Mutation | c.542N>C | p.Leu181Pro | p.L181P | Q16394 | protein_coding | deleterious(0.02) | probably_damaging(0.992) | TCGA-AA-3666-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | |
| EXT1 | SNV | Missense_Mutation | c.452N>T | p.Ala151Val | p.A151V | Q16394 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 |
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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 |
| Page: 1 |
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