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Gene: ECHDC2 |
Gene summary for ECHDC2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ECHDC2 | Gene ID | 55268 |
Gene name | enoyl-CoA hydratase domain containing 2 | |
Gene Alias | ECHDC2 | |
Cytomap | 1p32.3 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q86YB7 |
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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 |
55268 | ECHDC2 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 4.26e-19 | 5.61e-01 | -0.0166 |
55268 | ECHDC2 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 2.97e-20 | 5.35e-01 | -0.0132 |
55268 | ECHDC2 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 2.73e-27 | 5.63e-01 | -0.013 |
55268 | ECHDC2 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 4.54e-20 | 5.85e-01 | -0.0121 |
55268 | ECHDC2 | RNA-P7T1-P7T1-1 | Human | Lung | AIS | 1.38e-03 | 4.71e-01 | -0.0961 |
55268 | ECHDC2 | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 3.93e-04 | 4.05e-01 | -0.0876 |
55268 | ECHDC2 | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 7.49e-04 | 4.37e-01 | -0.0822 |
55268 | ECHDC2 | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 1.43e-03 | 3.81e-01 | -0.0809 |
55268 | ECHDC2 | C21 | Human | Oral cavity | OSCC | 9.93e-09 | 5.09e-01 | 0.2678 |
55268 | ECHDC2 | C38 | Human | Oral cavity | OSCC | 3.57e-08 | 9.75e-01 | 0.172 |
55268 | ECHDC2 | C43 | Human | Oral cavity | OSCC | 4.59e-29 | 5.50e-01 | 0.1704 |
55268 | ECHDC2 | C46 | Human | Oral cavity | OSCC | 6.81e-20 | 6.32e-01 | 0.1673 |
55268 | ECHDC2 | C07 | Human | Oral cavity | OSCC | 3.68e-02 | 4.84e-01 | 0.2491 |
55268 | ECHDC2 | C08 | Human | Oral cavity | OSCC | 1.27e-02 | 1.21e-01 | 0.1919 |
55268 | ECHDC2 | C09 | Human | Oral cavity | OSCC | 7.49e-09 | 4.51e-01 | 0.1431 |
55268 | ECHDC2 | LN22 | Human | Oral cavity | OSCC | 8.33e-03 | 8.48e-01 | 0.1733 |
55268 | ECHDC2 | LN46 | Human | Oral cavity | OSCC | 1.72e-11 | 6.79e-01 | 0.1666 |
55268 | ECHDC2 | LP15 | Human | Oral cavity | LP | 8.07e-06 | 1.15e+00 | 0.2174 |
55268 | ECHDC2 | SYSMH1 | Human | Oral cavity | OSCC | 7.89e-03 | 7.08e-02 | 0.1127 |
55268 | ECHDC2 | SYSMH2 | Human | Oral cavity | OSCC | 8.64e-08 | 3.57e-01 | 0.2326 |
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Transcriptomic changes along malignancy continuum. |
∗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: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 |
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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. |
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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 |
ECHDC2 | SNV | Missense_Mutation | rs536501241 | c.815N>A | p.Arg272Gln | p.R272Q | Q86YB7 | protein_coding | tolerated(0.21) | benign(0.036) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
ECHDC2 | SNV | Missense_Mutation | rs375624978 | c.464C>T | p.Ser155Leu | p.S155L | Q86YB7 | protein_coding | deleterious(0.01) | possibly_damaging(0.505) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
ECHDC2 | SNV | Missense_Mutation | c.354N>A | p.Met118Ile | p.M118I | Q86YB7 | protein_coding | tolerated(0.51) | benign(0.383) | TCGA-EK-A2RN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
ECHDC2 | SNV | Missense_Mutation | novel | c.718N>T | p.Arg240Trp | p.R240W | Q86YB7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ECHDC2 | SNV | Missense_Mutation | c.43N>G | p.Arg15Gly | p.R15G | Q86YB7 | protein_coding | tolerated(0.52) | benign(0) | TCGA-VS-A9UD-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR | |
ECHDC2 | SNV | Missense_Mutation | c.43N>T | p.Arg15Trp | p.R15W | Q86YB7 | protein_coding | tolerated(0.13) | benign(0) | TCGA-VS-A9V1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
ECHDC2 | SNV | Missense_Mutation | rs781602712 | c.232N>T | p.Arg78Cys | p.R78C | Q86YB7 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECHDC2 | SNV | Missense_Mutation | rs764403275 | c.415G>A | p.Gly139Arg | p.G139R | Q86YB7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
ECHDC2 | SNV | Missense_Mutation | rs768996501 | c.158N>A | p.Arg53His | p.R53H | Q86YB7 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ECHDC2 | SNV | Missense_Mutation | c.677C>T | p.Ala226Val | p.A226V | Q86YB7 | protein_coding | deleterious(0.03) | benign(0.243) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | 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 |
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