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Gene: EYA2 |
Gene summary for EYA2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | EYA2 | Gene ID | 2139 |
Gene name | EYA transcriptional coactivator and phosphatase 2 | |
Gene Alias | EAB1 | |
Cytomap | 20q13.12 | |
Gene Type | protein-coding | GO ID | GO:0001704 | UniProtAcc | O00167 |
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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 |
2139 | EYA2 | CA_HPV_1 | Human | Cervix | CC | 3.40e-02 | -1.00e-01 | 0.0264 |
2139 | EYA2 | CCI_1 | Human | Cervix | CC | 3.36e-16 | 1.41e+00 | 0.528 |
2139 | EYA2 | CCI_2 | Human | Cervix | CC | 1.96e-13 | 1.71e+00 | 0.5249 |
2139 | EYA2 | CCI_3 | Human | Cervix | CC | 9.44e-25 | 1.45e+00 | 0.516 |
2139 | EYA2 | H2 | Human | Cervix | HSIL_HPV | 3.81e-09 | 3.32e-01 | 0.0632 |
2139 | EYA2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.51e-25 | -9.62e-01 | 0.0155 |
2139 | EYA2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.25e-09 | -6.59e-01 | -0.1808 |
2139 | EYA2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.02e-07 | -8.27e-01 | -0.0811 |
2139 | EYA2 | HTA11_78_2000001011 | Human | Colorectum | AD | 3.58e-07 | -7.12e-01 | -0.1088 |
2139 | EYA2 | HTA11_347_2000001011 | Human | Colorectum | AD | 6.95e-04 | 4.03e-01 | -0.1954 |
2139 | EYA2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.19e-09 | -7.46e-01 | -0.1207 |
2139 | EYA2 | HTA11_866_2000001011 | Human | Colorectum | AD | 7.31e-09 | -5.70e-01 | -0.1001 |
2139 | EYA2 | HTA11_2992_2000001011 | Human | Colorectum | SER | 4.54e-06 | -9.72e-01 | -0.1706 |
2139 | EYA2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.64e-06 | -1.01e+00 | -0.2061 |
2139 | EYA2 | HTA11_4255_2000001011 | Human | Colorectum | SER | 4.00e-05 | -1.07e+00 | 0.0446 |
2139 | EYA2 | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.69e-02 | -7.70e-01 | 0.0528 |
2139 | EYA2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 3.35e-03 | -5.98e-01 | 0.0338 |
2139 | EYA2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 4.90e-34 | -9.22e-01 | 0.0674 |
2139 | EYA2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 3.23e-15 | -1.00e+00 | 0.0588 |
2139 | EYA2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 5.76e-46 | -1.06e+00 | 0.294 |
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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 |
GO:19026867 | Endometrium | EEC | mitochondrial outer membrane permeabilization involved in programmed cell death | 11/2168 | 40/18723 | 4.65e-03 | 2.97e-02 | 11 |
GO:19057106 | Endometrium | EEC | positive regulation of membrane permeability | 12/2168 | 48/18723 | 7.30e-03 | 4.15e-02 | 12 |
GO:20012391 | Endometrium | EEC | regulation of extrinsic apoptotic signaling pathway in absence of ligand | 11/2168 | 43/18723 | 8.36e-03 | 4.59e-02 | 11 |
GO:200123327 | Esophagus | HGIN | regulation of apoptotic signaling pathway | 97/2587 | 356/18723 | 1.36e-11 | 1.57e-09 | 97 |
GO:000683920 | Esophagus | HGIN | mitochondrial transport | 74/2587 | 254/18723 | 1.32e-10 | 1.32e-08 | 74 |
GO:000700618 | Esophagus | HGIN | mitochondrial membrane organization | 37/2587 | 116/18723 | 4.61e-07 | 2.07e-05 | 37 |
GO:200123427 | Esophagus | HGIN | negative regulation of apoptotic signaling pathway | 59/2587 | 224/18723 | 4.68e-07 | 2.07e-05 | 59 |
GO:009719126 | Esophagus | HGIN | extrinsic apoptotic signaling pathway | 56/2587 | 219/18723 | 2.48e-06 | 8.80e-05 | 56 |
GO:000863720 | Esophagus | HGIN | apoptotic mitochondrial changes | 33/2587 | 107/18723 | 4.32e-06 | 1.42e-04 | 33 |
GO:005105214 | Esophagus | HGIN | regulation of DNA metabolic process | 79/2587 | 359/18723 | 1.38e-05 | 3.85e-04 | 79 |
GO:200102019 | Esophagus | HGIN | regulation of response to DNA damage stimulus | 52/2587 | 219/18723 | 5.00e-05 | 1.19e-03 | 52 |
GO:005105416 | Esophagus | HGIN | positive regulation of DNA metabolic process | 47/2587 | 201/18723 | 1.65e-04 | 3.21e-03 | 47 |
GO:00165708 | Esophagus | HGIN | histone modification | 92/2587 | 463/18723 | 1.70e-04 | 3.30e-03 | 92 |
GO:000647017 | Esophagus | HGIN | protein dephosphorylation | 61/2587 | 281/18723 | 1.86e-04 | 3.51e-03 | 61 |
GO:200123626 | Esophagus | HGIN | regulation of extrinsic apoptotic signaling pathway | 36/2587 | 151/18723 | 6.20e-04 | 8.58e-03 | 36 |
GO:00605379 | Esophagus | HGIN | muscle tissue development | 76/2587 | 403/18723 | 2.67e-03 | 2.63e-02 | 76 |
GO:00147068 | Esophagus | HGIN | striated muscle tissue development | 72/2587 | 384/18723 | 3.94e-03 | 3.56e-02 | 72 |
GO:00469029 | Esophagus | HGIN | regulation of mitochondrial membrane permeability | 17/2587 | 63/18723 | 4.29e-03 | 3.82e-02 | 17 |
GO:200123725 | Esophagus | HGIN | negative regulation of extrinsic apoptotic signaling pathway | 23/2587 | 97/18723 | 5.91e-03 | 4.78e-02 | 23 |
GO:19026869 | Esophagus | HGIN | mitochondrial outer membrane permeabilization involved in programmed cell death | 12/2587 | 40/18723 | 6.22e-03 | 4.95e-02 | 12 |
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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 |
EYA2 | SNV | Missense_Mutation | c.710N>T | p.Asp237Val | p.D237V | O00167 | protein_coding | deleterious(0.01) | possibly_damaging(0.843) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | ||
EYA2 | SNV | Missense_Mutation | rs202115929 | c.559G>A | p.Val187Ile | p.V187I | O00167 | protein_coding | tolerated(0.11) | benign(0.022) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EYA2 | SNV | Missense_Mutation | c.925N>A | p.Glu309Lys | p.E309K | O00167 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-BH-A1F0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
EYA2 | insertion | Nonsense_Mutation | novel | c.107_108insCCCTTGTGCCCGATGAGCTTTAGAAAAACATAAAACAATC | p.Gln36HisfsTer6 | p.Q36Hfs*6 | O00167 | protein_coding | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
EYA2 | SNV | Missense_Mutation | c.844N>G | p.Phe282Val | p.F282V | O00167 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
EYA2 | SNV | Missense_Mutation | c.150N>G | p.Phe50Leu | p.F50L | O00167 | protein_coding | tolerated(0.16) | benign(0) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
EYA2 | SNV | Missense_Mutation | rs142696386 | c.631N>A | p.Val211Ile | p.V211I | O00167 | protein_coding | tolerated(0.48) | benign(0) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EYA2 | SNV | Missense_Mutation | novel | c.230N>C | p.Gly77Ala | p.G77A | O00167 | protein_coding | tolerated(0.08) | benign(0.094) | TCGA-AA-3684-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EYA2 | SNV | Missense_Mutation | novel | c.230N>C | p.Gly77Ala | p.G77A | O00167 | protein_coding | tolerated(0.08) | benign(0.094) | TCGA-AA-3831-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EYA2 | SNV | Missense_Mutation | c.844T>G | p.Phe282Val | p.F282V | O00167 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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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 |
2139 | EYA2 | DNA REPAIR | NSC-127133 | CHEMBL1172911 | ||
2139 | EYA2 | DNA REPAIR | SJ000018309 | CHEMBL591363 | ||
2139 | EYA2 | DNA REPAIR | FLUAZINAM | FLUAZINAM | ||
2139 | EYA2 | DNA REPAIR | (R)-EDELFOSINE | (R)-EDELFOSINE | ||
2139 | EYA2 | DNA REPAIR | GNF-PF-3418 | CHEMBL582099 | ||
2139 | EYA2 | DNA REPAIR | DNDI1417099 | CHEMBL1565444 | ||
2139 | EYA2 | DNA REPAIR | IMATINIB | IMATINIB | ||
2139 | EYA2 | DNA REPAIR | SJ000114740 | CHEMBL592068 | ||
2139 | EYA2 | DNA REPAIR | DIACEREIN | DIACEREIN | ||
2139 | EYA2 | DNA REPAIR | CLOFAZIMINE | CLOFAZIMINE |
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