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Gene: ECH1 |
Gene summary for ECH1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ECH1 | Gene ID | 1891 |
| Gene name | enoyl-CoA hydratase 1 | |
| Gene Alias | HPXEL | |
| Cytomap | 19q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q13011 |
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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 |
| 1891 | ECH1 | C04 | Human | Oral cavity | OSCC | 1.46e-28 | 1.65e+00 | 0.2633 |
| 1891 | ECH1 | C21 | Human | Oral cavity | OSCC | 2.76e-48 | 1.76e+00 | 0.2678 |
| 1891 | ECH1 | C30 | Human | Oral cavity | OSCC | 1.38e-41 | 2.77e+00 | 0.3055 |
| 1891 | ECH1 | C38 | Human | Oral cavity | OSCC | 1.97e-14 | 1.78e+00 | 0.172 |
| 1891 | ECH1 | C43 | Human | Oral cavity | OSCC | 5.80e-78 | 1.57e+00 | 0.1704 |
| 1891 | ECH1 | C46 | Human | Oral cavity | OSCC | 1.82e-54 | 1.51e+00 | 0.1673 |
| 1891 | ECH1 | C51 | Human | Oral cavity | OSCC | 1.40e-15 | 1.27e+00 | 0.2674 |
| 1891 | ECH1 | C57 | Human | Oral cavity | OSCC | 8.67e-10 | 9.37e-01 | 0.1679 |
| 1891 | ECH1 | C06 | Human | Oral cavity | OSCC | 4.28e-15 | 2.07e+00 | 0.2699 |
| 1891 | ECH1 | C07 | Human | Oral cavity | OSCC | 6.19e-08 | 1.73e+00 | 0.2491 |
| 1891 | ECH1 | C08 | Human | Oral cavity | OSCC | 4.78e-62 | 1.53e+00 | 0.1919 |
| 1891 | ECH1 | C09 | Human | Oral cavity | OSCC | 4.03e-21 | 8.26e-01 | 0.1431 |
| 1891 | ECH1 | LN22 | Human | Oral cavity | OSCC | 4.57e-27 | 3.94e+00 | 0.1733 |
| 1891 | ECH1 | LN38 | Human | Oral cavity | OSCC | 8.78e-07 | 1.52e+00 | 0.168 |
| 1891 | ECH1 | LN46 | Human | Oral cavity | OSCC | 2.84e-27 | 1.43e+00 | 0.1666 |
| 1891 | ECH1 | LP15 | Human | Oral cavity | LP | 1.11e-10 | 1.42e+00 | 0.2174 |
| 1891 | ECH1 | LP17 | Human | Oral cavity | LP | 3.43e-11 | 1.54e+00 | 0.2349 |
| 1891 | ECH1 | SYSMH1 | Human | Oral cavity | OSCC | 9.86e-21 | 6.09e-01 | 0.1127 |
| 1891 | ECH1 | SYSMH2 | Human | Oral cavity | OSCC | 4.33e-37 | 1.26e+00 | 0.2326 |
| 1891 | ECH1 | SYSMH3 | Human | Oral cavity | OSCC | 3.38e-31 | 1.08e+00 | 0.2442 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:0044282 | Colorectum | AD | small molecule catabolic process | 118/3918 | 376/18723 | 1.05e-06 | 3.55e-05 | 118 |
| GO:0006635 | Colorectum | AD | fatty acid beta-oxidation | 33/3918 | 74/18723 | 3.98e-06 | 1.09e-04 | 33 |
| GO:0009062 | Colorectum | AD | fatty acid catabolic process | 41/3918 | 100/18723 | 4.02e-06 | 1.09e-04 | 41 |
| GO:0019395 | Colorectum | AD | fatty acid oxidation | 40/3918 | 103/18723 | 2.43e-05 | 4.69e-04 | 40 |
| GO:0016042 | Colorectum | AD | lipid catabolic process | 97/3918 | 320/18723 | 4.31e-05 | 7.56e-04 | 97 |
| GO:0006631 | Colorectum | AD | fatty acid metabolic process | 114/3918 | 390/18723 | 5.58e-05 | 9.44e-04 | 114 |
| GO:0072329 | Colorectum | AD | monocarboxylic acid catabolic process | 44/3918 | 122/18723 | 8.05e-05 | 1.28e-03 | 44 |
| GO:0034440 | Colorectum | AD | lipid oxidation | 40/3918 | 108/18723 | 8.52e-05 | 1.32e-03 | 40 |
| GO:0030258 | Colorectum | AD | lipid modification | 67/3918 | 212/18723 | 1.66e-04 | 2.27e-03 | 67 |
| GO:0016054 | Colorectum | AD | organic acid catabolic process | 73/3918 | 240/18723 | 3.20e-04 | 3.81e-03 | 73 |
| GO:0044242 | Colorectum | AD | cellular lipid catabolic process | 66/3918 | 214/18723 | 3.96e-04 | 4.50e-03 | 66 |
| GO:0046395 | Colorectum | AD | carboxylic acid catabolic process | 70/3918 | 236/18723 | 9.06e-04 | 8.71e-03 | 70 |
| GO:00160421 | Colorectum | SER | lipid catabolic process | 77/2897 | 320/18723 | 3.52e-05 | 9.18e-04 | 77 |
| GO:00442821 | Colorectum | SER | small molecule catabolic process | 87/2897 | 376/18723 | 5.31e-05 | 1.27e-03 | 87 |
| GO:00090621 | Colorectum | SER | fatty acid catabolic process | 31/2897 | 100/18723 | 7.09e-05 | 1.61e-03 | 31 |
| GO:00066351 | Colorectum | SER | fatty acid beta-oxidation | 24/2897 | 74/18723 | 2.09e-04 | 3.77e-03 | 24 |
| GO:00723291 | Colorectum | SER | monocarboxylic acid catabolic process | 34/2897 | 122/18723 | 3.27e-04 | 5.22e-03 | 34 |
| GO:00193951 | Colorectum | SER | fatty acid oxidation | 29/2897 | 103/18723 | 7.24e-04 | 9.44e-03 | 29 |
| GO:00442421 | Colorectum | SER | cellular lipid catabolic process | 51/2897 | 214/18723 | 8.60e-04 | 1.05e-02 | 51 |
| GO:00344401 | Colorectum | SER | lipid oxidation | 29/2897 | 108/18723 | 1.63e-03 | 1.72e-02 | 29 |
| Page: 1 2 3 4 5 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa041467 | Esophagus | ESCC | Peroxisome | 55/4205 | 82/8465 | 1.04e-03 | 3.27e-03 | 1.68e-03 | 55 |
| hsa0414612 | Esophagus | ESCC | Peroxisome | 55/4205 | 82/8465 | 1.04e-03 | 3.27e-03 | 1.68e-03 | 55 |
| hsa041462 | Liver | Cirrhotic | Peroxisome | 36/2530 | 82/8465 | 4.79e-03 | 1.74e-02 | 1.07e-02 | 36 |
| hsa041463 | Liver | Cirrhotic | Peroxisome | 36/2530 | 82/8465 | 4.79e-03 | 1.74e-02 | 1.07e-02 | 36 |
| hsa041464 | Liver | HCC | Peroxisome | 58/4020 | 82/8465 | 1.57e-05 | 1.05e-04 | 5.85e-05 | 58 |
| hsa041465 | Liver | HCC | Peroxisome | 58/4020 | 82/8465 | 1.57e-05 | 1.05e-04 | 5.85e-05 | 58 |
| hsa041466 | Oral cavity | OSCC | Peroxisome | 47/3704 | 82/8465 | 9.01e-03 | 2.01e-02 | 1.03e-02 | 47 |
| hsa0414611 | Oral cavity | OSCC | Peroxisome | 47/3704 | 82/8465 | 9.01e-03 | 2.01e-02 | 1.03e-02 | 47 |
| hsa0414621 | Oral cavity | LP | Peroxisome | 33/2418 | 82/8465 | 1.48e-02 | 4.69e-02 | 3.03e-02 | 33 |
| hsa0414631 | Oral cavity | LP | Peroxisome | 33/2418 | 82/8465 | 1.48e-02 | 4.69e-02 | 3.03e-02 | 33 |
| 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 |
| ECH1 | SNV | Missense_Mutation | novel | c.608C>A | p.Ala203Asp | p.A203D | Q13011 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-A7-A3IZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
| ECH1 | SNV | Missense_Mutation | rs377757809 | c.693N>C | p.Lys231Asn | p.K231N | Q13011 | protein_coding | tolerated(0.18) | benign(0.397) | TCGA-D8-A4Z1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| ECH1 | insertion | Frame_Shift_Ins | novel | c.123_124insTCTG | p.Ala42SerfsTer9 | p.A42Sfs*9 | Q13011 | protein_coding | TCGA-D8-A27N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol+adriamycin+cyclophosphamide+herceptin | SD | ||
| ECH1 | SNV | Missense_Mutation | novel | c.848N>A | p.Arg283His | p.R283H | Q13011 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ECH1 | SNV | Missense_Mutation | c.657N>T | p.Gln219His | p.Q219H | Q13011 | protein_coding | tolerated(0.18) | benign(0.005) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| ECH1 | SNV | Missense_Mutation | rs746522011 | c.770C>T | p.Ala257Val | p.A257V | Q13011 | protein_coding | tolerated(0.15) | probably_damaging(0.991) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| ECH1 | SNV | Missense_Mutation | c.685N>A | p.Ala229Thr | p.A229T | Q13011 | protein_coding | deleterious(0.01) | probably_damaging(0.934) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
| ECH1 | SNV | Missense_Mutation | novel | c.927G>T | p.Lys309Asn | p.K309N | Q13011 | protein_coding | tolerated(0.2) | probably_damaging(0.988) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| ECH1 | SNV | Missense_Mutation | rs143488307 | c.632G>A | p.Arg211His | p.R211H | Q13011 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| ECH1 | SNV | Missense_Mutation | rs753440498 | c.427C>T | p.Arg143Cys | p.R143C | Q13011 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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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