Schematic overview of the cellular and molecular mechanisms involved in the cancer progression, including the proposed cellular and molecular mechanisms in cancer cells trajectory. AT1: alveolar type 1 cells; AT2: alveolar type 2 cells; AAH: atypical adenomatous hyperplasia; AIS: adenocarcinoma in situ; MIA: minimally invasive adenocarcinoma; IA: invasive adenocarcinoma; EMT: epithelial-mesenchymal transition

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Center for Computational Systems Medicine
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Gene summary

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Malignant transformation analysis

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Malignant transformation related pathway analysis

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Cell-cell communication analysis

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Single-cell gene regulatory network inference analysis

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Somatic mutation of malignant transformation related genes

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Related drugs of malignant transformation related genes

Gene: EPAS1

Gene summary for EPAS1

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

EPAS1

Gene ID

2034

Gene nameendothelial PAS domain protein 1
Gene AliasECYT4
Cytomap2p21
Gene Typeprotein-coding
GO ID

GO:0000003

UniProtAcc

B3KW07


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Malignant transformation analysis

check button 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
check button Malignant transformation involving gene list.
Entrez IDSymbolReplicatesSpeciesOrganTissueAdj P-valueLog2FCMalignancy
2034EPAS1HTA11_2487_2000001011HumanColorectumSER8.76e-116.54e-01-0.1808
2034EPAS1HTA11_1938_2000001011HumanColorectumAD1.05e-116.80e-01-0.0811
2034EPAS1HTA11_78_2000001011HumanColorectumAD8.74e-064.87e-01-0.1088
2034EPAS1HTA11_347_2000001011HumanColorectumAD3.64e-177.42e-01-0.1954
2034EPAS1HTA11_411_2000001011HumanColorectumSER2.72e-057.73e-01-0.2602
2034EPAS1HTA11_83_2000001011HumanColorectumSER5.77e-034.79e-01-0.1526
2034EPAS1HTA11_1391_2000001011HumanColorectumAD5.11e-065.15e-01-0.059
2034EPAS1HTA11_2992_2000001011HumanColorectumSER3.00e-023.87e-01-0.1706
2034EPAS1HTA11_5212_2000001011HumanColorectumAD1.14e-045.49e-01-0.2061
2034EPAS1HTA11_99999970781_79442HumanColorectumMSS1.02e-05-2.10e-010.294
2034EPAS1A002-C-010HumanColorectumFAP1.46e-03-1.24e-010.242
2034EPAS1A015-C-203HumanColorectumFAP7.86e-09-1.74e-01-0.1294
2034EPAS1A001-C-108HumanColorectumFAP9.05e-04-1.24e-01-0.0272
2034EPAS1A002-C-205HumanColorectumFAP4.80e-04-2.47e-01-0.1236
2034EPAS1A015-C-106HumanColorectumFAP1.78e-03-1.45e-01-0.0511
2034EPAS1A015-C-104HumanColorectumFAP2.66e-08-2.28e-01-0.1899
2034EPAS1A001-C-014HumanColorectumFAP2.30e-03-1.04e-010.0135
2034EPAS1A002-C-016HumanColorectumFAP2.29e-06-1.62e-010.0521
2034EPAS1A002-C-116HumanColorectumFAP2.57e-09-1.91e-01-0.0452
2034EPAS1A014-C-008HumanColorectumFAP1.08e-03-2.73e-01-0.191
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check button Transcriptomic changes along malignancy continuum.
TissueExpression DynamicsAbbreviation
Colorectum (GSE201348)The image shows the 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.FAP: Familial adenomatous polyposis
CRC: Colorectal cancer
Colorectum (HTA11)The image shows the 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.AD: Adenomas
SER: Sessile serrated lesions
MSI-H: Microsatellite-high colorectal cancer
MSS: Microsatellite stable colorectal cancer
EsophagusThe image shows the 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.ESCC: Esophageal squamous cell carcinoma
HGIN: High-grade intraepithelial neoplasias
LGIN: Low-grade intraepithelial neoplasias
LiverThe image shows the 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.HCC: Hepatocellular carcinoma
NAFLD: Non-alcoholic fatty liver disease
LungThe image shows the 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.AAH: Atypical adenomatous hyperplasia
AIS: Adenocarcinoma in situ
IAC: Invasive lung adenocarcinoma
MIA: Minimally invasive adenocarcinoma
Oral CavityThe image shows the 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.EOLP: Erosive Oral lichen planus
LP: leukoplakia
NEOLP: Non-erosive oral lichen planus
OSCC: Oral squamous cell carcinoma
ProstateThe image shows the 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.BPH: Benign Prostatic Hyperplasia
SkinThe image shows the 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.AK: Actinic keratosis
cSCC: Cutaneous squamous cell carcinoma
SCCIS:squamous cell carcinoma in situ
ThyroidThe image shows the 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.ATC: Anaplastic thyroid cancer
HT: Hashimoto's thyroiditis
PTC: Papillary thyroid 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

check buttonFind out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer
check button Figure of enriched GO biological processes.
TissueDisease StageEnriched GO biological Processes
ColorectumADGO analysis - Figure of enriched GO biological processes: 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).
ColorectumSERGO analysis - Figure of enriched GO biological processes: 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).
ColorectumMSSGO analysis - Figure of enriched GO biological processes: 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).
ColorectumMSI-HGO analysis - Figure of enriched GO biological processes: 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).
ColorectumFAPGO analysis - Figure of enriched GO biological processes: 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).
∗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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check button Enriched GO biological processes.
GO IDTissueDisease StageDescriptionGene RatioBg Ratiopvaluep.adjustCount
GO:0006979ColorectumADresponse to oxidative stress145/3918446/187235.16e-093.23e-07145
GO:1903320ColorectumADregulation of protein modification by small protein conjugation or removal86/3918242/187239.43e-084.65e-0686
GO:0062197ColorectumADcellular response to chemical stress109/3918337/187235.33e-071.95e-05109
GO:0034101ColorectumADerythrocyte homeostasis51/3918129/187231.07e-063.59e-0551
GO:0030099ColorectumADmyeloid cell differentiation119/3918381/187231.24e-064.01e-05119
GO:0055076ColorectumADtransition metal ion homeostasis53/3918138/187231.89e-065.65e-0553
GO:0034599ColorectumADcellular response to oxidative stress94/3918288/187232.03e-066.02e-0594
GO:0002262ColorectumADmyeloid cell homeostasis57/3918157/187236.17e-061.56e-0457
GO:0048872ColorectumADhomeostasis of number of cells87/3918272/187231.16e-052.61e-0487
GO:0030218ColorectumADerythrocyte differentiation45/3918120/187232.22e-054.39e-0445
GO:0001701ColorectumADin utero embryonic development110/3918367/187232.36e-054.62e-04110
GO:0001890ColorectumADplacenta development51/3918144/187233.99e-057.16e-0451
GO:0001892ColorectumADembryonic placenta development33/391882/187235.30e-059.01e-0433
GO:0060249ColorectumADanatomical structure homeostasis94/3918314/187239.37e-051.42e-0394
GO:0043620ColorectumADregulation of DNA-templated transcription in response to stress23/391853/187231.86e-042.49e-0323
GO:0001894ColorectumADtissue homeostasis81/3918268/187231.96e-042.62e-0381
GO:0055072ColorectumADiron ion homeostasis32/391885/187232.97e-043.60e-0332
GO:0070482ColorectumADresponse to oxygen levels99/3918347/187234.29e-044.82e-0399
GO:0043618ColorectumADregulation of transcription from RNA polymerase II promoter in response to stress20/391847/187236.54e-046.75e-0320
GO:0071453ColorectumADcellular response to oxygen levels55/3918177/187239.48e-048.96e-0355
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check button Enriched KEGG pathways.
Pathway IDTissueDisease StageDescriptionGene RatioBg Ratiopvaluep.adjustqvalueCount
hsa05211ColorectumADRenal cell carcinoma28/209269/84652.58e-031.37e-028.75e-0328
hsa052111ColorectumADRenal cell carcinoma28/209269/84652.58e-031.37e-028.75e-0328
hsa052112ColorectumFAPRenal cell carcinoma23/140469/84654.86e-043.56e-032.16e-0323
hsa052113ColorectumFAPRenal cell carcinoma23/140469/84654.86e-043.56e-032.16e-0323
hsa052114ColorectumCRCRenal cell carcinoma20/109169/84653.02e-043.48e-032.36e-0320
hsa052115ColorectumCRCRenal cell carcinoma20/109169/84653.02e-043.48e-032.36e-0320
hsa0521118EsophagusESCCRenal cell carcinoma51/420569/84653.29e-051.53e-047.83e-0551
hsa0521119EsophagusESCCRenal cell carcinoma51/420569/84653.29e-051.53e-047.83e-0551
hsa0521121LiverHCCRenal cell carcinoma51/402069/84656.76e-065.53e-053.07e-0551
hsa0521131LiverHCCRenal cell carcinoma51/402069/84656.76e-065.53e-053.07e-0551
hsa052117LungIACRenal cell carcinoma18/105369/84651.51e-039.23e-036.13e-0318
hsa0521112LungIACRenal cell carcinoma18/105369/84651.51e-039.23e-036.13e-0318
hsa0521122LungAISRenal cell carcinoma15/96169/84659.37e-034.10e-022.63e-0215
hsa0521132LungAISRenal cell carcinoma15/96169/84659.37e-034.10e-022.63e-0215
hsa0521116Oral cavityOSCCRenal cell carcinoma51/370469/84653.30e-072.05e-061.04e-0651
hsa0521117Oral cavityOSCCRenal cell carcinoma51/370469/84653.30e-072.05e-061.04e-0651
hsa0521141Oral cavityEOLPRenal cell carcinoma25/121869/84654.96e-063.27e-051.93e-0525
hsa0521151Oral cavityEOLPRenal cell carcinoma25/121869/84654.96e-063.27e-051.93e-0525
hsa0521161Oral cavityNEOLPRenal cell carcinoma21/111269/84651.32e-049.32e-045.86e-0421
hsa0521171Oral cavityNEOLPRenal cell carcinoma21/111269/84651.32e-049.32e-045.86e-0421
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Cell-cell communication analysis

check buttonIdentification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states
LigandReceptorLRpairPathwayTissueDisease Stage
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Single-cell gene regulatory network inference analysis

check buttonFind out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states
TFCell TypeTissueDisease StageTarget GeneRSSRegulon Activity
EPAS1MASTCervixADJRGS5,SPARC,ADAMTS4, etc.2.90e-01The 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.
EPAS1MASTCervixCCRGS5,SPARC,ADAMTS4, etc.8.46e-02The 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.
EPAS1INMONCervixHealthyRGS5,SPARC,ADAMTS4, etc.2.36e-02The 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.
EPAS1MASTCervixHealthyRGS5,SPARC,ADAMTS4, etc.1.62e-02The 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.
EPAS1MASTCervixHSIL_HPVRGS5,SPARC,ADAMTS4, etc.2.23e-01The 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.
EPAS1IMENTColorectumADJFSIP2,FABP1,ABCC3, etc.3.18e-01The 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.
EPAS1CHIEFStomachHealthyEIF3A,ID3,EGFL6, etc.4.27e-01The 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.
∗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

check buttonAnnotation of somatic variants for genes involved in malignant transformation
Hugo SymbolVariant ClassVariant ClassificationdbSNP RSHGVScHGVSpHGVSp ShortSWISSPROTBIOTYPESIFTPolyPhenTumor Sample BarcodeTissueHistologySexAgeStageTherapy TypesDrugsOutcome
EPAS1SNVMissense_Mutationc.694C>Ap.Pro232Thrp.P232TQ99814protein_codingdeleterious(0)probably_damaging(0.992)TCGA-A2-A04T-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapycyclophosphamideSD
EPAS1SNVMissense_Mutationrs377001303c.1556N>Tp.Thr519Metp.T519MQ99814protein_codingtolerated(0.3)benign(0.091)TCGA-AN-A0AK-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
EPAS1SNVMissense_Mutationc.625N>Gp.Asn209Aspp.N209DQ99814protein_codingtolerated(0.58)benign(0.011)TCGA-AN-A0AS-01Breastbreast invasive carcinomaFemale>=65III/IVUnknownUnknownSD
EPAS1SNVMissense_Mutationnovelc.2061N>Gp.Phe687Leup.F687LQ99814protein_codingtolerated(0.16)benign(0.005)TCGA-B6-A0WX-01Breastbreast invasive carcinomaFemale<65III/IVUnknownUnknownPD
EPAS1SNVMissense_Mutationc.164N>Tp.Ser55Phep.S55FQ99814protein_codingdeleterious(0)probably_damaging(0.929)TCGA-BH-A0DX-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapytaxotereCR
EPAS1SNVMissense_Mutationc.493G>Cp.Glu165Glnp.E165QQ99814protein_codingtolerated(0.08)probably_damaging(0.984)TCGA-E2-A1AZ-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapyadriamycinSD
EPAS1insertionFrame_Shift_Insnovelc.1651_1652insAAGGCTGGTACATGATACAAGGp.Leu551GlnfsTer67p.L551Qfs*67Q99814protein_codingTCGA-A8-A09E-01Breastbreast invasive carcinomaFemale>=65III/IVHormone TherapyanastrozoleSD
EPAS1insertionNonsense_Mutationnovelc.1933_1934insGAp.Leu645Terp.L645*Q99814protein_codingTCGA-BH-A0BM-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapyadriamycinSD
EPAS1insertionFrame_Shift_Insnovelc.1934_1935insGTATAAAACATGTATAAp.His646TyrfsTer56p.H646Yfs*56Q99814protein_codingTCGA-BH-A0BM-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapyadriamycinSD
EPAS1deletionFrame_Shift_Delc.2397delNp.Pro801HisfsTer39p.P801Hfs*39Q99814protein_codingTCGA-EW-A1IZ-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapytaxotereSD
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Related drugs of malignant transformation related genes

check buttonIdentification of chemicals and drugs interact with genes involved in malignant transfromation
(DGIdb 4.0)
Entrez IDSymbolCategoryInteraction TypesDrug Claim NameDrug NamePMIDs
2034EPAS1KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR COMPLEXPUUPEHENONEPUUPEHENONE22928967
2034EPAS1KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR COMPLEXHALICLONADIAMINEHALICLONADIAMINE22928967
2034EPAS1KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR COMPLEXNEOPETROFORMYNE ANEOPETROFORMYNE A22928967
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