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Gene: TWIST1 |
Gene summary for TWIST1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TWIST1 | Gene ID | 7291 |
| Gene name | twist family bHLH transcription factor 1 | |
| Gene Alias | ACS3 | |
| Cytomap | 7p21.1 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q15672 |
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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 |
| 7291 | TWIST1 | C30 | Human | Oral cavity | OSCC | 6.80e-05 | 4.27e-01 | 0.3055 |
| 7291 | TWIST1 | C43 | Human | Oral cavity | OSCC | 2.55e-05 | 6.19e-03 | 0.1704 |
| 7291 | TWIST1 | EOLP-1 | Human | Oral cavity | EOLP | 5.02e-03 | 1.80e-01 | -0.0202 |
| 7291 | TWIST1 | NEOLP-1 | Human | Oral cavity | NEOLP | 4.84e-18 | 6.42e-01 | -0.0194 |
| 7291 | TWIST1 | NEOLP-2 | Human | Oral cavity | NEOLP | 4.77e-22 | 5.80e-01 | -0.0196 |
| 7291 | TWIST1 | NEOLP-3 | Human | Oral cavity | NEOLP | 1.28e-12 | 4.59e-01 | -0.0191 |
| 7291 | TWIST1 | SYSMH1 | Human | Oral cavity | OSCC | 2.45e-02 | -1.99e-01 | 0.1127 |
| 7291 | TWIST1 | SYSMH4 | Human | Oral cavity | OSCC | 7.87e-03 | -2.08e-01 | 0.1226 |
| 7291 | TWIST1 | SYSMH6 | Human | Oral cavity | OSCC | 3.73e-03 | -2.00e-01 | 0.1275 |
| 7291 | TWIST1 | ATC12 | Human | Thyroid | ATC | 7.59e-25 | 5.16e-01 | 0.34 |
| 7291 | TWIST1 | ATC13 | Human | Thyroid | ATC | 1.61e-39 | 6.97e-01 | 0.34 |
| 7291 | TWIST1 | ATC2 | Human | Thyroid | ATC | 5.68e-36 | 2.26e+00 | 0.34 |
| 7291 | TWIST1 | ATC4 | Human | Thyroid | ATC | 1.32e-34 | 6.49e-01 | 0.34 |
| 7291 | TWIST1 | ATC5 | Human | Thyroid | ATC | 3.53e-40 | 7.70e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:200067712 | Thyroid | ATC | regulation of transcription regulatory region DNA binding | 28/6293 | 50/18723 | 9.31e-04 | 5.00e-03 | 28 |
| GO:000318111 | Thyroid | ATC | atrioventricular valve morphogenesis | 16/6293 | 24/18723 | 9.46e-04 | 5.07e-03 | 16 |
| GO:000181924 | Thyroid | ATC | positive regulation of cytokine production | 189/6293 | 467/18723 | 1.00e-03 | 5.31e-03 | 189 |
| GO:004338832 | Thyroid | ATC | positive regulation of DNA binding | 30/6293 | 56/18723 | 1.63e-03 | 8.18e-03 | 30 |
| GO:19048882 | Thyroid | ATC | cranial skeletal system development | 35/6293 | 68/18723 | 1.76e-03 | 8.71e-03 | 35 |
| GO:00457657 | Thyroid | ATC | regulation of angiogenesis | 141/6293 | 342/18723 | 1.80e-03 | 8.85e-03 | 141 |
| GO:00600211 | Thyroid | ATC | roof of mouth development | 42/6293 | 85/18723 | 1.83e-03 | 9.02e-03 | 42 |
| GO:19013427 | Thyroid | ATC | regulation of vasculature development | 143/6293 | 348/18723 | 1.95e-03 | 9.44e-03 | 143 |
| GO:0003197 | Thyroid | ATC | endocardial cushion development | 25/6293 | 45/18723 | 2.00e-03 | 9.59e-03 | 25 |
| GO:0003203 | Thyroid | ATC | endocardial cushion morphogenesis | 21/6293 | 36/18723 | 2.01e-03 | 9.59e-03 | 21 |
| GO:00485688 | Thyroid | ATC | embryonic organ development | 172/6293 | 427/18723 | 2.08e-03 | 9.84e-03 | 172 |
| GO:00351074 | Thyroid | ATC | appendage morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
| GO:00351084 | Thyroid | ATC | limb morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
| GO:003505111 | Thyroid | ATC | cardiocyte differentiation | 70/6293 | 156/18723 | 2.18e-03 | 1.02e-02 | 70 |
| GO:00487368 | Thyroid | ATC | appendage development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
| GO:00601738 | Thyroid | ATC | limb development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
| GO:2000772 | Thyroid | ATC | regulation of cellular senescence | 28/6293 | 53/18723 | 3.01e-03 | 1.36e-02 | 28 |
| GO:00510531 | Thyroid | ATC | negative regulation of DNA metabolic process | 57/6293 | 125/18723 | 3.47e-03 | 1.55e-02 | 57 |
| GO:0050673111 | Thyroid | ATC | epithelial cell proliferation | 174/6293 | 437/18723 | 3.49e-03 | 1.55e-02 | 174 |
| GO:190198412 | Thyroid | ATC | negative regulation of protein acetylation | 15/6293 | 24/18723 | 3.52e-03 | 1.56e-02 | 15 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0520526 | Oral cavity | OSCC | Proteoglycans in cancer | 128/3704 | 205/8465 | 4.00e-08 | 3.12e-07 | 1.59e-07 | 128 |
| hsa05205111 | Oral cavity | OSCC | Proteoglycans in cancer | 128/3704 | 205/8465 | 4.00e-08 | 3.12e-07 | 1.59e-07 | 128 |
| hsa0520543 | Oral cavity | EOLP | Proteoglycans in cancer | 53/1218 | 205/8465 | 9.07e-06 | 5.33e-05 | 3.14e-05 | 53 |
| hsa0520553 | Oral cavity | EOLP | Proteoglycans in cancer | 53/1218 | 205/8465 | 9.07e-06 | 5.33e-05 | 3.14e-05 | 53 |
| hsa0520562 | Oral cavity | NEOLP | Proteoglycans in cancer | 56/1112 | 205/8465 | 3.49e-08 | 5.85e-07 | 3.68e-07 | 56 |
| hsa0520572 | Oral cavity | NEOLP | Proteoglycans in cancer | 56/1112 | 205/8465 | 3.49e-08 | 5.85e-07 | 3.68e-07 | 56 |
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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 |
| TWIST1 | BAS | Breast | ADJ | GJA4,KCNJ8,IGFBP7, etc. | 1.18e-01 |  |
| TWIST1 | CD8TRM | Esophagus | ADJ | ACVR2B-AS1,SNX1,SGPP2, etc. | 3.98e-01 |  |
| TWIST1 | CD8TCM | Esophagus | ADJ | ACVR2B-AS1,SNX1,SGPP2, etc. | 1.11e-01 | |
| TWIST1 | TFH | Esophagus | ADJ | ACVR2B-AS1,SNX1,SGPP2, etc. | 2.88e-02 | |
| TWIST1 | CD8TCM | Esophagus | ESCC | ACVR2B-AS1,SNX1,SGPP2, etc. | 1.35e-01 |  |
| TWIST1 | TFH | Esophagus | ESCC | ACVR2B-AS1,SNX1,SGPP2, etc. | 7.67e-02 | |
| TWIST1 | PSC | Pancreas | ADJ | HTRA1,COL1A2,COL6A2, etc. | 9.56e-02 |  |
| TWIST1 | ICAF | Pancreas | ADJ | HTRA1,COL1A2,COL6A2, etc. | 5.45e-01 | |
| TWIST1 | PSC | Pancreas | PanIN | HTRA1,COL1A2,COL6A2, etc. | 1.26e-01 |  |
| TWIST1 | PSC | Pancreas | PDAC | HTRA1,COL1A2,COL6A2, etc. | 5.05e-01 |  |
| ∗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 2 |
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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 |
| TWIST1 | SNV | Missense_Mutation | c.551G>T | p.Ser184Ile | p.S184I | Q15672 | protein_coding | deleterious(0) | probably_damaging(0.921) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TWIST1 | SNV | Missense_Mutation | c.513N>C | p.Lys171Asn | p.K171N | Q15672 | protein_coding | deleterious(0.01) | benign(0.306) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR | |
| TWIST1 | SNV | Missense_Mutation | c.513G>C | p.Lys171Asn | p.K171N | Q15672 | protein_coding | deleterious(0.01) | benign(0.306) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TWIST1 | SNV | Missense_Mutation | c.352N>T | p.Arg118Cys | p.R118C | Q15672 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-2671-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Other, specify in notesProtocol AMG 20060464 | study | PD | |
| TWIST1 | SNV | Missense_Mutation | c.341A>G | p.Asn114Ser | p.N114S | Q15672 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| TWIST1 | SNV | Missense_Mutation | rs762445986 | c.598N>A | p.Ala200Thr | p.A200T | Q15672 | protein_coding | tolerated(0.31) | benign(0.041) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| TWIST1 | SNV | Missense_Mutation | c.388G>A | p.Ala130Thr | p.A130T | Q15672 | protein_coding | tolerated(0.06) | benign(0.121) | TCGA-AG-3885-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | |
| TWIST1 | SNV | Missense_Mutation | novel | c.425N>C | p.Lys142Thr | p.K142T | Q15672 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TWIST1 | SNV | Missense_Mutation | novel | c.398N>G | p.Lys133Arg | p.K133R | Q15672 | protein_coding | deleterious(0.01) | possibly_damaging(0.449) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
| TWIST1 | SNV | Missense_Mutation | c.438T>G | p.Ile146Met | p.I146M | Q15672 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 |
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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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