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Gene: ELN |
Gene summary for ELN |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ELN | Gene ID | 2006 |
| Gene name | elastin | |
| Gene Alias | ADCL1 | |
| Cytomap | 7q11.23 | |
| Gene Type | protein-coding | GO ID | GO:0003007 | UniProtAcc | P15502 |
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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 |
| 2006 | ELN | P4T-E | Human | Esophagus | ESCC | 1.70e-06 | 2.68e-01 | 0.1323 |
| 2006 | ELN | P8T-E | Human | Esophagus | ESCC | 2.96e-08 | 3.28e-01 | 0.0889 |
| 2006 | ELN | P10T-E | Human | Esophagus | ESCC | 2.23e-13 | 3.04e-01 | 0.116 |
| 2006 | ELN | P12T-E | Human | Esophagus | ESCC | 6.44e-09 | 2.72e-01 | 0.1122 |
| 2006 | ELN | P16T-E | Human | Esophagus | ESCC | 5.32e-12 | 3.79e-01 | 0.1153 |
| 2006 | ELN | P19T-E | Human | Esophagus | ESCC | 9.01e-04 | 8.91e-01 | 0.1662 |
| 2006 | ELN | P21T-E | Human | Esophagus | ESCC | 4.36e-08 | 3.05e-01 | 0.1617 |
| 2006 | ELN | P22T-E | Human | Esophagus | ESCC | 2.01e-02 | -8.46e-03 | 0.1236 |
| 2006 | ELN | P27T-E | Human | Esophagus | ESCC | 7.13e-19 | 5.63e-01 | 0.1055 |
| 2006 | ELN | P56T-E | Human | Esophagus | ESCC | 1.62e-04 | 4.04e-01 | 0.1613 |
| 2006 | ELN | P57T-E | Human | Esophagus | ESCC | 2.53e-11 | 4.89e-01 | 0.0926 |
| 2006 | ELN | P62T-E | Human | Esophagus | ESCC | 9.07e-17 | 6.91e-01 | 0.1302 |
| 2006 | ELN | P65T-E | Human | Esophagus | ESCC | 1.75e-46 | 1.69e+00 | 0.0978 |
| 2006 | ELN | P74T-E | Human | Esophagus | ESCC | 2.43e-37 | 1.49e+00 | 0.1479 |
| 2006 | ELN | P76T-E | Human | Esophagus | ESCC | 2.38e-02 | 7.25e-03 | 0.1207 |
| 2006 | ELN | P79T-E | Human | Esophagus | ESCC | 5.88e-06 | 2.36e-01 | 0.1154 |
| 2006 | ELN | S014 | Human | Liver | HCC | 5.48e-15 | 6.72e-01 | 0.2254 |
| 2006 | ELN | S015 | Human | Liver | HCC | 2.28e-13 | 6.75e-01 | 0.2375 |
| 2006 | ELN | S016 | Human | Liver | HCC | 4.21e-13 | 6.76e-01 | 0.2243 |
| 2006 | ELN | ATC13 | Human | Thyroid | ATC | 2.62e-100 | 2.42e+00 | 0.34 |
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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). |
| 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:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
| GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
| GO:0051258111 | Esophagus | ESCC | protein polymerization | 183/8552 | 297/18723 | 1.94e-08 | 3.75e-07 | 183 |
| GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
| GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
| GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
| GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
| GO:0032271111 | Esophagus | ESCC | regulation of protein polymerization | 143/8552 | 233/18723 | 9.21e-07 | 1.17e-05 | 143 |
| GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
| GO:005101727 | Esophagus | ESCC | actin filament bundle assembly | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
| GO:006157227 | Esophagus | ESCC | actin filament bundle organization | 101/8552 | 161/18723 | 9.22e-06 | 8.82e-05 | 101 |
| GO:000815420 | Esophagus | ESCC | actin polymerization or depolymerization | 130/8552 | 218/18723 | 2.19e-05 | 1.88e-04 | 130 |
| GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
| GO:0030041110 | Esophagus | ESCC | actin filament polymerization | 114/8552 | 191/18723 | 6.46e-05 | 4.92e-04 | 114 |
| GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
| GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
| GO:000806419 | Esophagus | ESCC | regulation of actin polymerization or depolymerization | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
| GO:003083218 | Esophagus | ESCC | regulation of actin filament length | 112/8552 | 189/18723 | 1.13e-04 | 7.85e-04 | 112 |
| GO:003083320 | Esophagus | ESCC | regulation of actin filament polymerization | 103/8552 | 172/18723 | 1.19e-04 | 8.15e-04 | 103 |
| GO:003003820 | Esophagus | ESCC | contractile actin filament bundle assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
| Page: 1 2 3 4 5 6 |
| 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. |
| 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 |
| ELN | SNV | Missense_Mutation | novel | c.418N>G | p.Lys140Glu | p.K140E | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-A2-A3XS-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD | |
| ELN | SNV | Missense_Mutation | rs782282589 | c.343N>A | p.Val115Ile | p.V115I | protein_coding | tolerated_low_confidence(0.07) | benign(0.003) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
| ELN | SNV | Missense_Mutation | c.178G>C | p.Gly60Arg | p.G60R | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.776) | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| ELN | SNV | Missense_Mutation | c.1519N>C | p.Gly507Arg | p.G507R | protein_coding | deleterious_low_confidence(0) | benign(0.239) | TCGA-AR-A0TP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| ELN | SNV | Missense_Mutation | novel | c.1900N>G | p.Gln634Glu | p.Q634E | protein_coding | unknown(0) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| ELN | SNV | Missense_Mutation | c.1897T>C | p.Ser633Pro | p.S633P | protein_coding | unknown(0) | TCGA-E9-A247-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |||
| ELN | SNV | Missense_Mutation | c.1546N>A | p.Pro516Thr | p.P516T | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | ||
| ELN | insertion | Nonsense_Mutation | novel | c.1847_1848insCACACAGCAAATCTATGCCAGGGCCGAGGCTCCAGCCCTCTTTCCATA | p.Gly616_Val617insThrGlnGlnIleTyrAlaArgAlaGluAlaProAlaLeuPheProTer | p.G616_V617insTQQIYARAEAPALFP* | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | |||
| ELN | insertion | In_Frame_Ins | novel | c.609_610insGCTACTTGGGAGGCTGAGGCAGGAGGATTG | p.Pro203_Leu204insAlaThrTrpGluAlaGluAlaGlyGlyLeu | p.P203_L204insATWEAEAGGL | protein_coding | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |||
| ELN | insertion | In_Frame_Ins | novel | c.903_904insCTCCAT | p.Pro301_Ala302insLeuHis | p.P301_A302insLH | protein_coding | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 |
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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 |
| 2006 | ELN | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PRT-201 | VONAPANITASE | ||
| 2006 | ELN | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | CHEMBL3545070 | VONAPANITASE |
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