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Gene: ECHDC1 |
Gene summary for ECHDC1 |
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Gene information | Species | Human | Gene symbol | ECHDC1 | Gene ID | 55862 |
Gene name | ethylmalonyl-CoA decarboxylase 1 | |
Gene Alias | HEL-S-76 | |
Cytomap | 6q22.33 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q9NTX5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55862 | ECHDC1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.65e-13 | -5.45e-01 | 0.0155 |
55862 | ECHDC1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 9.77e-04 | -4.51e-01 | -0.1808 |
55862 | ECHDC1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 8.69e-05 | -5.35e-01 | -0.1207 |
55862 | ECHDC1 | HTA11_696_2000001011 | Human | Colorectum | AD | 4.12e-06 | -3.74e-01 | -0.1464 |
55862 | ECHDC1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.96e-07 | -3.76e-01 | -0.1001 |
55862 | ECHDC1 | HTA11_866_3004761011 | Human | Colorectum | AD | 4.86e-11 | -5.27e-01 | 0.096 |
55862 | ECHDC1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.89e-02 | -5.51e-01 | -0.0177 |
55862 | ECHDC1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.49e-05 | -5.23e-01 | 0.0338 |
55862 | ECHDC1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.58e-17 | -5.06e-01 | 0.0674 |
55862 | ECHDC1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 4.16e-06 | -3.73e-01 | 0.294 |
55862 | ECHDC1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.40e-13 | -4.49e-01 | 0.3859 |
55862 | ECHDC1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.12e-02 | -5.02e-01 | 0.2585 |
55862 | ECHDC1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.67e-19 | -5.53e-01 | 0.3005 |
55862 | ECHDC1 | A001-C-207 | Human | Colorectum | FAP | 5.10e-04 | -3.14e-01 | 0.1278 |
55862 | ECHDC1 | A015-C-203 | Human | Colorectum | FAP | 9.44e-33 | -5.56e-01 | -0.1294 |
55862 | ECHDC1 | A015-C-204 | Human | Colorectum | FAP | 1.61e-07 | -3.98e-01 | -0.0228 |
55862 | ECHDC1 | A014-C-040 | Human | Colorectum | FAP | 1.06e-02 | -1.77e-01 | -0.1184 |
55862 | ECHDC1 | A002-C-201 | Human | Colorectum | FAP | 2.12e-16 | -4.97e-01 | 0.0324 |
55862 | ECHDC1 | A002-C-203 | Human | Colorectum | FAP | 2.92e-09 | -2.88e-01 | 0.2786 |
55862 | ECHDC1 | A001-C-119 | Human | Colorectum | FAP | 1.11e-10 | -5.07e-01 | -0.1557 |
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∗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 |
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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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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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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00640 | Colorectum | AD | Propanoate metabolism | 18/2092 | 32/8465 | 1.33e-04 | 1.11e-03 | 7.08e-04 | 18 |
hsa006401 | Colorectum | AD | Propanoate metabolism | 18/2092 | 32/8465 | 1.33e-04 | 1.11e-03 | 7.08e-04 | 18 |
hsa006402 | Colorectum | SER | Propanoate metabolism | 13/1580 | 32/8465 | 3.20e-03 | 2.12e-02 | 1.54e-02 | 13 |
hsa006403 | Colorectum | SER | Propanoate metabolism | 13/1580 | 32/8465 | 3.20e-03 | 2.12e-02 | 1.54e-02 | 13 |
hsa006404 | Colorectum | MSS | Propanoate metabolism | 15/1875 | 32/8465 | 1.68e-03 | 9.05e-03 | 5.55e-03 | 15 |
hsa006405 | Colorectum | MSS | Propanoate metabolism | 15/1875 | 32/8465 | 1.68e-03 | 9.05e-03 | 5.55e-03 | 15 |
hsa006406 | Colorectum | FAP | Propanoate metabolism | 15/1404 | 32/8465 | 6.21e-05 | 6.10e-04 | 3.71e-04 | 15 |
hsa006407 | Colorectum | FAP | Propanoate metabolism | 15/1404 | 32/8465 | 6.21e-05 | 6.10e-04 | 3.71e-04 | 15 |
hsa006408 | Colorectum | CRC | Propanoate metabolism | 11/1091 | 32/8465 | 1.51e-03 | 1.17e-02 | 7.94e-03 | 11 |
hsa006409 | Colorectum | CRC | Propanoate metabolism | 11/1091 | 32/8465 | 1.51e-03 | 1.17e-02 | 7.94e-03 | 11 |
hsa0064010 | Liver | NAFLD | Propanoate metabolism | 12/1043 | 32/8465 | 2.44e-04 | 4.45e-03 | 3.58e-03 | 12 |
hsa0064011 | Liver | NAFLD | Propanoate metabolism | 12/1043 | 32/8465 | 2.44e-04 | 4.45e-03 | 3.58e-03 | 12 |
hsa0064041 | Liver | HCC | Propanoate metabolism | 24/4020 | 32/8465 | 1.42e-03 | 5.07e-03 | 2.82e-03 | 24 |
hsa0064051 | Liver | HCC | Propanoate metabolism | 24/4020 | 32/8465 | 1.42e-03 | 5.07e-03 | 2.82e-03 | 24 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
ECHDC1 | SNV | Missense_Mutation | novel | c.440C>A | p.Pro147His | p.P147H | Q9NTX5 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ECHDC1 | SNV | Missense_Mutation | novel | c.412A>C | p.Asn138His | p.N138H | Q9NTX5 | protein_coding | tolerated(0.07) | benign(0.17) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ECHDC1 | insertion | Frame_Shift_Ins | rs772315663 | c.795_796insA | p.Ser266IlefsTer36 | p.S266Ifs*36 | Q9NTX5 | protein_coding | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
ECHDC1 | SNV | Missense_Mutation | c.872N>A | p.Gly291Asp | p.G291D | Q9NTX5 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-55-8208-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
ECHDC1 | SNV | Missense_Mutation | c.381G>T | p.Glu127Asp | p.E127D | Q9NTX5 | protein_coding | tolerated(0.2) | benign(0.062) | TCGA-L9-A8F4-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ECHDC1 | SNV | Missense_Mutation | novel | c.289A>G | p.Thr97Ala | p.T97A | Q9NTX5 | protein_coding | tolerated(0.35) | benign(0.029) | TCGA-68-7757-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ECHDC1 | SNV | Missense_Mutation | novel | c.764N>A | p.Gly255Glu | p.G255E | Q9NTX5 | protein_coding | deleterious(0.01) | probably_damaging(0.919) | TCGA-90-A4ED-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ECHDC1 | SNV | Missense_Mutation | novel | c.763N>A | p.Gly255Arg | p.G255R | Q9NTX5 | protein_coding | deleterious(0) | possibly_damaging(0.497) | TCGA-90-A4ED-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ECHDC1 | SNV | Missense_Mutation | c.346N>A | p.Asp116Asn | p.D116N | Q9NTX5 | protein_coding | deleterious(0.02) | probably_damaging(0.986) | TCGA-CN-4730-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ECHDC1 | SNV | Missense_Mutation | novel | c.906N>T | p.Lys302Asn | p.K302N | Q9NTX5 | protein_coding | tolerated(0.31) | benign(0.001) | TCGA-CN-A49B-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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