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Gene: EMSY |
Gene summary for EMSY |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EMSY | Gene ID | 56946 |
| Gene name | EMSY transcriptional repressor, BRCA2 interacting | |
| Gene Alias | C11orf30 | |
| Cytomap | 11q13.5 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q7Z589 |
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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 |
| 56946 | EMSY | GSM4909298 | Human | Breast | IDC | 3.95e-37 | 6.18e-01 | 0.1551 |
| 56946 | EMSY | M5 | Human | Breast | IDC | 2.67e-02 | 3.67e-01 | 0.1598 |
| 56946 | EMSY | P3 | Human | Breast | IDC | 5.58e-06 | 5.39e-01 | 0.1542 |
| 56946 | EMSY | DCIS2 | Human | Breast | DCIS | 1.25e-10 | 2.56e-02 | 0.0085 |
| 56946 | EMSY | LZE4T | Human | Esophagus | ESCC | 1.88e-04 | 5.42e-02 | 0.0811 |
| 56946 | EMSY | LZE7T | Human | Esophagus | ESCC | 6.59e-03 | 1.18e-01 | 0.0667 |
| 56946 | EMSY | LZE8T | Human | Esophagus | ESCC | 5.61e-03 | 4.43e-02 | 0.067 |
| 56946 | EMSY | LZE24T | Human | Esophagus | ESCC | 1.13e-12 | 2.78e-01 | 0.0596 |
| 56946 | EMSY | LZE6T | Human | Esophagus | ESCC | 2.93e-02 | 6.21e-02 | 0.0845 |
| 56946 | EMSY | P2T-E | Human | Esophagus | ESCC | 4.12e-34 | 6.47e-01 | 0.1177 |
| 56946 | EMSY | P4T-E | Human | Esophagus | ESCC | 1.37e-26 | 4.41e-01 | 0.1323 |
| 56946 | EMSY | P5T-E | Human | Esophagus | ESCC | 6.33e-08 | 5.95e-02 | 0.1327 |
| 56946 | EMSY | P8T-E | Human | Esophagus | ESCC | 1.45e-09 | 1.21e-01 | 0.0889 |
| 56946 | EMSY | P9T-E | Human | Esophagus | ESCC | 6.49e-09 | 1.12e-01 | 0.1131 |
| 56946 | EMSY | P10T-E | Human | Esophagus | ESCC | 4.96e-09 | 1.03e-01 | 0.116 |
| 56946 | EMSY | P11T-E | Human | Esophagus | ESCC | 8.32e-09 | 2.59e-01 | 0.1426 |
| 56946 | EMSY | P12T-E | Human | Esophagus | ESCC | 1.07e-15 | 1.94e-01 | 0.1122 |
| 56946 | EMSY | P15T-E | Human | Esophagus | ESCC | 6.46e-09 | 6.34e-02 | 0.1149 |
| 56946 | EMSY | P16T-E | Human | Esophagus | ESCC | 8.99e-14 | 1.76e-01 | 0.1153 |
| 56946 | EMSY | P17T-E | Human | Esophagus | ESCC | 2.62e-05 | 1.13e-01 | 0.1278 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗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:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
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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 |
| EMSY | SNV | Missense_Mutation | c.3495G>C | p.Leu1165Phe | p.L1165F | Q7Z589 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| EMSY | SNV | Missense_Mutation | c.2901N>C | p.Gln967His | p.Q967H | Q7Z589 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.948) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| EMSY | SNV | Missense_Mutation | novel | c.2105T>C | p.Leu702Pro | p.L702P | Q7Z589 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-A2-A3XY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
| EMSY | SNV | Missense_Mutation | c.58N>G | p.Leu20Val | p.L20V | Q7Z589 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.945) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EMSY | SNV | Missense_Mutation | c.1630G>A | p.Ala544Thr | p.A544T | Q7Z589 | protein_coding | tolerated(0.59) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| EMSY | SNV | Missense_Mutation | c.3937N>G | p.Met1313Val | p.M1313V | Q7Z589 | protein_coding | tolerated_low_confidence(0.06) | benign(0) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EMSY | SNV | Missense_Mutation | c.1173C>G | p.Ile391Met | p.I391M | Q7Z589 | protein_coding | deleterious(0.03) | benign(0.157) | TCGA-AN-A0FL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| EMSY | SNV | Missense_Mutation | c.1662C>G | p.Ile554Met | p.I554M | Q7Z589 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-AO-A0JE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| EMSY | SNV | Missense_Mutation | c.2143N>A | p.Glu715Lys | p.E715K | Q7Z589 | protein_coding | tolerated_low_confidence(0.21) | possibly_damaging(0.607) | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| EMSY | SNV | Missense_Mutation | c.2712N>G | p.Ile904Met | p.I904M | Q7Z589 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.924) | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | 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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