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Gene: EWSR1 |
Gene summary for EWSR1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | EWSR1 | Gene ID | 2130 |
Gene name | EWS RNA binding protein 1 | |
Gene Alias | EWS | |
Cytomap | 22q12.2 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q01844 |
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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 |
2130 | EWSR1 | cirrhotic3 | Human | Liver | Cirrhotic | 6.21e-04 | -1.45e-02 | 0.0215 |
2130 | EWSR1 | HCC1 | Human | Liver | HCC | 8.02e-06 | 3.29e+00 | 0.5336 |
2130 | EWSR1 | HCC2 | Human | Liver | HCC | 6.19e-09 | 3.04e+00 | 0.5341 |
2130 | EWSR1 | Pt13.b | Human | Liver | HCC | 2.19e-19 | 1.10e-01 | 0.0251 |
2130 | EWSR1 | Pt13.c | Human | Liver | HCC | 1.96e-02 | -3.25e-01 | 0.0076 |
2130 | EWSR1 | Pt14.a | Human | Liver | HCC | 3.16e-06 | 3.00e-01 | 0.0169 |
2130 | EWSR1 | S014 | Human | Liver | HCC | 3.29e-21 | 1.10e+00 | 0.2254 |
2130 | EWSR1 | S015 | Human | Liver | HCC | 4.66e-19 | 1.30e+00 | 0.2375 |
2130 | EWSR1 | S016 | Human | Liver | HCC | 6.12e-24 | 1.15e+00 | 0.2243 |
2130 | EWSR1 | S027 | Human | Liver | HCC | 1.47e-13 | 1.50e+00 | 0.2446 |
2130 | EWSR1 | S028 | Human | Liver | HCC | 9.79e-16 | 1.23e+00 | 0.2503 |
2130 | EWSR1 | S029 | Human | Liver | HCC | 2.73e-24 | 1.76e+00 | 0.2581 |
2130 | EWSR1 | C04 | Human | Oral cavity | OSCC | 9.26e-38 | 1.94e+00 | 0.2633 |
2130 | EWSR1 | C21 | Human | Oral cavity | OSCC | 1.14e-68 | 2.45e+00 | 0.2678 |
2130 | EWSR1 | C30 | Human | Oral cavity | OSCC | 4.55e-51 | 2.58e+00 | 0.3055 |
2130 | EWSR1 | C38 | Human | Oral cavity | OSCC | 9.29e-22 | 2.29e+00 | 0.172 |
2130 | EWSR1 | C43 | Human | Oral cavity | OSCC | 1.80e-47 | 9.64e-01 | 0.1704 |
2130 | EWSR1 | C46 | Human | Oral cavity | OSCC | 1.55e-59 | 1.28e+00 | 0.1673 |
2130 | EWSR1 | C51 | Human | Oral cavity | OSCC | 4.94e-31 | 1.49e+00 | 0.2674 |
2130 | EWSR1 | C57 | Human | Oral cavity | OSCC | 4.90e-28 | 1.22e+00 | 0.1679 |
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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 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05202 | Colorectum | FAP | Transcriptional misregulation in cancer | 45/1404 | 193/8465 | 9.19e-03 | 3.33e-02 | 2.03e-02 | 45 |
hsa052021 | Colorectum | FAP | Transcriptional misregulation in cancer | 45/1404 | 193/8465 | 9.19e-03 | 3.33e-02 | 2.03e-02 | 45 |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
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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 |
EWSR1 | SNV | Missense_Mutation | c.1502N>C | p.Gly501Ala | p.G501A | Q01844 | protein_coding | tolerated(0.14) | benign(0.137) | TCGA-A1-A0SG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | ||
EWSR1 | SNV | Missense_Mutation | c.1709N>C | p.Arg570Thr | p.R570T | Q01844 | protein_coding | deleterious_low_confidence(0.03) | benign(0.018) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
EWSR1 | SNV | Missense_Mutation | c.980G>T | p.Arg327Leu | p.R327L | Q01844 | protein_coding | tolerated(0.66) | benign(0.141) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EWSR1 | SNV | Missense_Mutation | c.1406N>A | p.Arg469Lys | p.R469K | Q01844 | protein_coding | deleterious(0.03) | possibly_damaging(0.899) | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
EWSR1 | insertion | Frame_Shift_Ins | novel | c.1928_1929insGGCGTGGCCAGATGCAGTGGGGAGGAGGCGGC | p.Pro644AlafsTer39 | p.P644Afs*39 | Q01844 | protein_coding | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD | ||
EWSR1 | deletion | In_Frame_Del | novel | c.1614_1619delNNNNNN | p.Phe539_Ala540del | p.F539_A540del | Q01844 | protein_coding | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
EWSR1 | SNV | Missense_Mutation | novel | c.1890N>C | p.Leu630Phe | p.L630F | Q01844 | protein_coding | deleterious_low_confidence(0) | benign(0.102) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EWSR1 | SNV | Missense_Mutation | novel | c.1789N>T | p.Arg597Cys | p.R597C | Q01844 | protein_coding | tolerated_low_confidence(0.19) | benign(0) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
EWSR1 | SNV | Missense_Mutation | c.1378N>T | p.Arg460Trp | p.R460W | Q01844 | protein_coding | tolerated(0.12) | benign(0.001) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EWSR1 | SNV | Missense_Mutation | c.1728G>A | p.Met576Ile | p.M576I | Q01844 | protein_coding | tolerated_low_confidence(0.17) | benign(0) | TCGA-AA-3833-01 | 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 |
2130 | EWSR1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, TRANSCRIPTION FACTOR | SUNITINIB | SUNITINIB | 24703573 |
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