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Gene: ESPL1 |
Gene summary for ESPL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ESPL1 | Gene ID | 9700 |
| Gene name | extra spindle pole bodies like 1, separase | |
| Gene Alias | ESP1 | |
| Cytomap | 12q13.13 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q14674 |
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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 |
| 9700 | ESPL1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.47e-03 | 1.09e-01 | 0.0155 |
| 9700 | ESPL1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.87e-02 | 1.40e-01 | -0.1808 |
| 9700 | ESPL1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.40e-02 | 1.89e-01 | 0.0216 |
| 9700 | ESPL1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 5.27e-05 | 2.06e-01 | -0.0811 |
| 9700 | ESPL1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.18e-10 | 2.28e-01 | -0.1954 |
| 9700 | ESPL1 | HTA11_696_2000001011 | Human | Colorectum | AD | 6.52e-18 | 4.79e-01 | -0.1464 |
| 9700 | ESPL1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 9.45e-06 | 1.72e-01 | -0.059 |
| 9700 | ESPL1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.31e-08 | 4.40e-01 | -0.1706 |
| 9700 | ESPL1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 3.40e-03 | 2.77e-01 | -0.1462 |
| 9700 | ESPL1 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.44e-03 | 2.11e-01 | -0.0842 |
| 9700 | ESPL1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.26e-04 | 1.65e-01 | 0.281 |
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| 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 |
| ∗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 |
| Oral cavity | OSCC |  |
| Oral cavity | LP |  |
| Oral cavity | EOLP |  |
| Oral cavity | NEOLP |  |
| Esophagus | HGIN |  |
| ∗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:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
| GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
| GO:0000910 | Colorectum | AD | cytokinesis | 59/3918 | 173/18723 | 3.74e-05 | 6.75e-04 | 59 |
| GO:0061640 | Colorectum | AD | cytoskeleton-dependent cytokinesis | 37/3918 | 100/18723 | 1.58e-04 | 2.20e-03 | 37 |
| GO:0033044 | Colorectum | AD | regulation of chromosome organization | 60/3918 | 187/18723 | 2.25e-04 | 2.94e-03 | 60 |
| GO:0007063 | Colorectum | AD | regulation of sister chromatid cohesion | 12/3918 | 21/18723 | 3.02e-04 | 3.62e-03 | 12 |
| GO:0007051 | Colorectum | AD | spindle organization | 58/3918 | 184/18723 | 4.71e-04 | 5.20e-03 | 58 |
| GO:1902850 | Colorectum | AD | microtubule cytoskeleton organization involved in mitosis | 48/3918 | 147/18723 | 5.87e-04 | 6.21e-03 | 48 |
| GO:0007062 | Colorectum | AD | sister chromatid cohesion | 23/3918 | 62/18723 | 2.51e-03 | 1.92e-02 | 23 |
| GO:0000281 | Colorectum | AD | mitotic cytokinesis | 25/3918 | 71/18723 | 3.77e-03 | 2.65e-02 | 25 |
| GO:0007346 | Colorectum | AD | regulation of mitotic cell cycle | 119/3918 | 457/18723 | 4.60e-03 | 3.14e-02 | 119 |
| GO:0045787 | Colorectum | AD | positive regulation of cell cycle | 85/3918 | 313/18723 | 4.76e-03 | 3.22e-02 | 85 |
| GO:0045842 | Colorectum | AD | positive regulation of mitotic metaphase/anaphase transition | 8/3918 | 15/18723 | 5.67e-03 | 3.64e-02 | 8 |
| GO:1901970 | Colorectum | AD | positive regulation of mitotic sister chromatid separation | 8/3918 | 15/18723 | 5.67e-03 | 3.64e-02 | 8 |
| GO:1905820 | Colorectum | AD | positive regulation of chromosome separation | 9/3918 | 18/18723 | 5.82e-03 | 3.67e-02 | 9 |
| GO:0140014 | Colorectum | AD | mitotic nuclear division | 78/3918 | 287/18723 | 6.48e-03 | 4.05e-02 | 78 |
| GO:0045931 | Colorectum | AD | positive regulation of mitotic cell cycle | 37/3918 | 121/18723 | 7.88e-03 | 4.73e-02 | 37 |
| GO:00516561 | Colorectum | SER | establishment of organelle localization | 100/2897 | 390/18723 | 1.11e-07 | 6.79e-06 | 100 |
| GO:00106391 | Colorectum | SER | negative regulation of organelle organization | 90/2897 | 348/18723 | 3.14e-07 | 1.69e-05 | 90 |
| GO:00009101 | Colorectum | SER | cytokinesis | 45/2897 | 173/18723 | 2.28e-04 | 3.93e-03 | 45 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa05166 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
| hsa051661 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
| hsa051662 | Colorectum | MSS | Human T-cell leukemia virus 1 infection | 68/1875 | 222/8465 | 1.84e-03 | 9.61e-03 | 5.89e-03 | 68 |
| hsa051663 | Colorectum | MSS | Human T-cell leukemia virus 1 infection | 68/1875 | 222/8465 | 1.84e-03 | 9.61e-03 | 5.89e-03 | 68 |
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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 |
| ESPL1 | SNV | Missense_Mutation | c.1401N>A | p.Phe467Leu | p.F467L | Q14674 | protein_coding | tolerated(0.08) | benign(0.152) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| ESPL1 | SNV | Missense_Mutation | novel | c.5140N>T | p.Ala1714Ser | p.A1714S | Q14674 | protein_coding | tolerated(0.12) | benign(0) | TCGA-A2-A25B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | PD |
| ESPL1 | SNV | Missense_Mutation | novel | c.2834N>A | p.Leu945His | p.L945H | Q14674 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A091-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
| ESPL1 | SNV | Missense_Mutation | novel | c.425N>A | p.Ala142Asp | p.A142D | Q14674 | protein_coding | deleterious(0) | possibly_damaging(0.601) | TCGA-AC-A23G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
| ESPL1 | SNV | Missense_Mutation | novel | c.3697N>C | p.Glu1233Gln | p.E1233Q | Q14674 | protein_coding | tolerated(0.66) | benign(0.021) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| ESPL1 | SNV | Missense_Mutation | c.4240N>A | p.Glu1414Lys | p.E1414K | Q14674 | protein_coding | tolerated(0.47) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| ESPL1 | SNV | Missense_Mutation | novel | c.5501C>T | p.Pro1834Leu | p.P1834L | Q14674 | protein_coding | tolerated(0.1) | possibly_damaging(0.714) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ESPL1 | SNV | Missense_Mutation | rs746647343 | c.2809A>G | p.Ile937Val | p.I937V | Q14674 | protein_coding | tolerated(0.64) | benign(0) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
| ESPL1 | SNV | Missense_Mutation | novel | c.4331N>A | p.Ser1444Asn | p.S1444N | Q14674 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
| ESPL1 | SNV | Missense_Mutation | c.226N>C | p.Glu76Gln | p.E76Q | Q14674 | protein_coding | tolerated(0.13) | benign(0.015) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
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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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