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Gene: HMCES |
Gene summary for HMCES |
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Gene information | Species | Human | Gene symbol | HMCES | Gene ID | 56941 |
Gene name | 5-hydroxymethylcytosine binding, ES cell specific | |
Gene Alias | C3orf37 | |
Cytomap | 3q21.3 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | Q96FZ2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
56941 | HMCES | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.84e-04 | 2.28e-01 | -0.1808 |
56941 | HMCES | HTA11_347_2000001011 | Human | Colorectum | AD | 6.73e-07 | 3.10e-01 | -0.1954 |
56941 | HMCES | HTA11_83_2000001011 | Human | Colorectum | SER | 5.49e-05 | 2.83e-01 | -0.1526 |
56941 | HMCES | HTA11_866_2000001011 | Human | Colorectum | AD | 3.27e-02 | 2.14e-01 | -0.1001 |
56941 | HMCES | HTA11_866_3004761011 | Human | Colorectum | AD | 1.09e-05 | 3.17e-01 | 0.096 |
56941 | HMCES | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.44e-04 | 2.52e-01 | 0.0674 |
56941 | HMCES | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.78e-08 | 3.85e-01 | 0.3859 |
56941 | HMCES | A015-C-203 | Human | Colorectum | FAP | 1.71e-02 | -1.02e-01 | -0.1294 |
56941 | HMCES | A015-C-104 | Human | Colorectum | FAP | 1.71e-02 | -1.12e-01 | -0.1899 |
56941 | HMCES | LZE2T | Human | Esophagus | ESCC | 4.33e-02 | 7.86e-01 | 0.082 |
56941 | HMCES | LZE4T | Human | Esophagus | ESCC | 1.93e-09 | 5.71e-01 | 0.0811 |
56941 | HMCES | LZE7T | Human | Esophagus | ESCC | 2.04e-14 | 1.20e+00 | 0.0667 |
56941 | HMCES | LZE8T | Human | Esophagus | ESCC | 1.53e-08 | 2.92e-01 | 0.067 |
56941 | HMCES | LZE22T | Human | Esophagus | ESCC | 9.45e-06 | 3.11e-01 | 0.068 |
56941 | HMCES | LZE24T | Human | Esophagus | ESCC | 9.33e-15 | 4.60e-01 | 0.0596 |
56941 | HMCES | LZE6T | Human | Esophagus | ESCC | 1.46e-08 | 2.59e-01 | 0.0845 |
56941 | HMCES | P1T-E | Human | Esophagus | ESCC | 2.92e-10 | 5.97e-01 | 0.0875 |
56941 | HMCES | P2T-E | Human | Esophagus | ESCC | 2.68e-62 | 1.13e+00 | 0.1177 |
56941 | HMCES | P4T-E | Human | Esophagus | ESCC | 3.66e-38 | 1.22e+00 | 0.1323 |
56941 | HMCES | P5T-E | Human | Esophagus | ESCC | 1.09e-48 | 9.43e-01 | 0.1327 |
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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:0051052 | Colorectum | AD | regulation of DNA metabolic process | 116/3918 | 359/18723 | 2.47e-07 | 1.00e-05 | 116 |
GO:0051054 | Colorectum | AD | positive regulation of DNA metabolic process | 73/3918 | 201/18723 | 3.27e-07 | 1.29e-05 | 73 |
GO:00510541 | Colorectum | SER | positive regulation of DNA metabolic process | 53/2897 | 201/18723 | 4.51e-05 | 1.13e-03 | 53 |
GO:00510521 | Colorectum | SER | regulation of DNA metabolic process | 83/2897 | 359/18723 | 8.03e-05 | 1.77e-03 | 83 |
GO:00510522 | Colorectum | MSS | regulation of DNA metabolic process | 108/3467 | 359/18723 | 5.86e-08 | 3.10e-06 | 108 |
GO:00510542 | Colorectum | MSS | positive regulation of DNA metabolic process | 69/3467 | 201/18723 | 6.33e-08 | 3.26e-06 | 69 |
GO:0006302 | Colorectum | MSS | double-strand break repair | 64/3467 | 251/18723 | 3.58e-03 | 2.65e-02 | 64 |
GO:00510524 | Colorectum | FAP | regulation of DNA metabolic process | 84/2622 | 359/18723 | 9.80e-07 | 4.38e-05 | 84 |
GO:00510544 | Colorectum | FAP | positive regulation of DNA metabolic process | 53/2622 | 201/18723 | 2.55e-06 | 9.82e-05 | 53 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
GO:00025622 | Esophagus | ESCC | somatic diversification of immune receptors via germline recombination within a single locus | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:0006303 | Esophagus | ESCC | double-strand break repair via nonhomologous end joining | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:00164442 | Esophagus | ESCC | somatic cell DNA recombination | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:00164472 | Esophagus | ESCC | somatic recombination of immunoglobulin gene segments | 38/8552 | 57/18723 | 1.11e-03 | 5.56e-03 | 38 |
GO:00022003 | Esophagus | ESCC | somatic diversification of immune receptors | 49/8552 | 77/18723 | 1.12e-03 | 5.60e-03 | 49 |
GO:00164452 | Esophagus | ESCC | somatic diversification of immunoglobulins | 43/8552 | 67/18723 | 1.73e-03 | 7.97e-03 | 43 |
GO:00023815 | Esophagus | ESCC | immunoglobulin production involved in immunoglobulin-mediated immune response | 44/8552 | 70/18723 | 2.80e-03 | 1.19e-02 | 44 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
HMCES | deletion | Frame_Shift_Del | novel | c.376_377delNN | p.Tyr126Ter | p.Y126* | Q96FZ2 | protein_coding | TCGA-BG-A221-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
HMCES | SNV | Missense_Mutation | novel | c.524N>T | p.Thr175Ile | p.T175I | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-5R-AA1C-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | c.8N>C | p.Gly3Ala | p.G3A | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-62-A46P-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
HMCES | SNV | Missense_Mutation | novel | c.695T>A | p.Val232Asp | p.V232D | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-22-1002-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | rs770080789 | c.532N>A | p.Gly178Arg | p.G178R | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-43-7656-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | c.852N>G | p.Ser284Arg | p.S284R | Q96FZ2 | protein_coding | deleterious(0.01) | benign(0.014) | TCGA-66-2767-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
HMCES | SNV | Missense_Mutation | novel | c.758N>G | p.Ser253Cys | p.S253C | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CN-4729-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | rs751603398 | c.910C>T | p.Pro304Ser | p.P304S | Q96FZ2 | protein_coding | tolerated(0.19) | benign(0.012) | TCGA-BR-8361-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | novel | c.409N>G | p.Arg137Gly | p.R137G | Q96FZ2 | protein_coding | deleterious(0) | benign(0.038) | TCGA-BR-8680-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR |
HMCES | SNV | Missense_Mutation | novel | c.205A>G | p.Ile69Val | p.I69V | Q96FZ2 | protein_coding | tolerated(1) | benign(0.012) | TCGA-VQ-A91K-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
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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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