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: TGFBR1

Gene summary for TGFBR1

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

TGFBR1

Gene ID

7046

Gene nametransforming growth factor beta receptor 1
Gene AliasAAT5
Cytomap9q22.33
Gene Typeprotein-coding
GO ID

GO:0000003

UniProtAcc

B4DXN7


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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
7046TGFBR1LZE24THumanEsophagusESCC4.74e-081.77e-010.0596
7046TGFBR1LZE6THumanEsophagusESCC1.21e-024.88e-020.0845
7046TGFBR1P2T-EHumanEsophagusESCC1.52e-161.90e-010.1177
7046TGFBR1P4T-EHumanEsophagusESCC9.11e-081.85e-010.1323
7046TGFBR1P5T-EHumanEsophagusESCC2.03e-02-1.02e-010.1327
7046TGFBR1P8T-EHumanEsophagusESCC1.88e-08-4.69e-020.0889
7046TGFBR1P9T-EHumanEsophagusESCC2.58e-065.10e-020.1131
7046TGFBR1P10T-EHumanEsophagusESCC6.54e-07-6.99e-020.116
7046TGFBR1P11T-EHumanEsophagusESCC1.55e-063.48e-010.1426
7046TGFBR1P12T-EHumanEsophagusESCC2.28e-121.29e-010.1122
7046TGFBR1P15T-EHumanEsophagusESCC7.77e-03-2.72e-020.1149
7046TGFBR1P16T-EHumanEsophagusESCC2.12e-10-1.11e-010.1153
7046TGFBR1P20T-EHumanEsophagusESCC1.69e-06-2.44e-020.1124
7046TGFBR1P21T-EHumanEsophagusESCC7.04e-295.00e-010.1617
7046TGFBR1P22T-EHumanEsophagusESCC6.89e-08-8.27e-020.1236
7046TGFBR1P23T-EHumanEsophagusESCC3.53e-06-9.41e-030.108
7046TGFBR1P24T-EHumanEsophagusESCC1.29e-094.93e-020.1287
7046TGFBR1P26T-EHumanEsophagusESCC1.16e-139.29e-040.1276
7046TGFBR1P27T-EHumanEsophagusESCC4.33e-17-5.84e-020.1055
7046TGFBR1P28T-EHumanEsophagusESCC1.23e-162.34e-010.1149
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check button Transcriptomic changes along malignancy continuum.
TissueExpression DynamicsAbbreviation
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
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
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:19048882ThyroidATCcranial skeletal system development35/629368/187231.76e-038.71e-0335
GO:00600211ThyroidATCroof of mouth development42/629385/187231.83e-039.02e-0342
GO:00608401ThyroidATCartery development48/6293100/187231.97e-039.52e-0348
GO:0003197ThyroidATCendocardial cushion development25/629345/187232.00e-039.59e-0325
GO:0003203ThyroidATCendocardial cushion morphogenesis21/629336/187232.01e-039.59e-0321
GO:003030719ThyroidATCpositive regulation of cell growth74/6293166/187232.06e-039.73e-0374
GO:00485688ThyroidATCembryonic organ development172/6293427/187232.08e-039.84e-03172
GO:004863815ThyroidATCregulation of developmental growth136/6293330/187232.17e-031.02e-02136
GO:00451374ThyroidATCdevelopment of primary sexual characteristics97/6293227/187232.47e-031.14e-0297
GO:0050673111ThyroidATCepithelial cell proliferation174/6293437/187233.49e-031.55e-02174
GO:012019318ThyroidATCtight junction organization39/629380/187233.55e-031.57e-0239
GO:00352654ThyroidATCorgan growth77/6293178/187234.45e-031.85e-0277
GO:00488441ThyroidATCartery morphogenesis36/629374/187235.19e-032.12e-0236
GO:0003272ThyroidATCendocardial cushion formation16/629327/187235.50e-032.24e-0216
GO:00512163ThyroidATCcartilage development81/6293190/187235.70e-032.30e-0281
GO:00487011ThyroidATCembryonic cranial skeleton morphogenesis24/629346/187237.13e-032.82e-0224
GO:0060976ThyroidATCcoronary vasculature development24/629346/187237.13e-032.82e-0224
GO:01501462ThyroidATCcell junction disassembly13/629321/187237.34e-032.87e-0213
GO:0050678110ThyroidATCregulation of epithelial cell proliferation151/6293381/187237.47e-032.92e-02151
GO:004592720ThyroidATCpositive regulation of growth106/6293259/187237.90e-033.06e-02106
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check button Enriched KEGG pathways.
Pathway IDTissueDisease StageDescriptionGene RatioBg Ratiopvaluep.adjustqvalueCount
hsa04144210EsophagusESCCEndocytosis186/4205251/84659.74e-164.66e-142.39e-14186
hsa05166211EsophagusESCCHuman T-cell leukemia virus 1 infection164/4205222/84658.13e-142.09e-121.07e-12164
hsa0421829EsophagusESCCCellular senescence119/4205156/84655.89e-129.40e-114.81e-11119
hsa05415211EsophagusESCCDiabetic cardiomyopathy146/4205203/84655.81e-117.78e-103.99e-10146
hsa0521020EsophagusESCCColorectal cancer69/420586/84654.06e-094.13e-082.11e-0869
hsa0521216EsophagusESCCPancreatic cancer62/420576/84657.37e-096.85e-083.51e-0862
hsa0522020EsophagusESCCChronic myeloid leukemia61/420576/84653.20e-082.68e-071.37e-0761
hsa0452030EsophagusESCCAdherens junction69/420593/84651.08e-066.83e-063.50e-0669
hsa0493310EsophagusESCCAGE-RAGE signaling pathway in diabetic complications72/4205100/84654.15e-062.28e-051.17e-0572
hsa051619EsophagusESCCHepatitis B108/4205162/84657.68e-064.15e-052.12e-05108
hsa040689EsophagusESCCFoxO signaling pathway89/4205131/84651.56e-057.98e-054.09e-0589
hsa0522518EsophagusESCCHepatocellular carcinoma109/4205168/84654.27e-051.88e-049.64e-05109
hsa049268EsophagusESCCRelaxin signaling pathway81/4205129/84651.72e-035.09e-032.61e-0381
hsa043507EsophagusESCCTGF-beta signaling pathway69/4205108/84651.92e-035.54e-032.84e-0369
hsa051425EsophagusESCCChagas disease65/4205102/84652.81e-037.59e-033.89e-0365
hsa046599EsophagusESCCTh17 cell differentiation68/4205108/84653.53e-039.30e-034.76e-0368
hsa0439018EsophagusESCCHippo signaling pathway92/4205157/84651.46e-023.31e-021.69e-0292
hsa0414437EsophagusESCCEndocytosis186/4205251/84659.74e-164.66e-142.39e-14186
hsa05166310EsophagusESCCHuman T-cell leukemia virus 1 infection164/4205222/84658.13e-142.09e-121.07e-12164
hsa0421838EsophagusESCCCellular senescence119/4205156/84655.89e-129.40e-114.81e-11119
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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
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbBreastADJ
TGFB3TGFbR1_R2TGFB3_TGFBR1_TGFBR2TGFbBreastADJ
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbBreastDCIS
TGFB3TGFbR1_R2TGFB3_TGFBR1_TGFBR2TGFbBreastDCIS
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbBreastIDC
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbCervixCC
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbCRCCRC
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbCRCMSI-H
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbCRCSER
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbEndometriumADJ
TGFB2TGFbR1_R2TGFB2_TGFBR1_TGFBR2TGFbEndometriumADJ
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbEndometriumAEH
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbEsophagusESCC
TGFB3TGFbR1_R2TGFB3_TGFBR1_TGFBR2TGFbEsophagusESCC
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbHNSCCADJ
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbHNSCCOSCC
TGFB3TGFbR1_R2TGFB3_TGFBR1_TGFBR2TGFbHNSCCOSCC
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbHNSCCPrecancer
TGFB3TGFbR1_R2TGFB3_TGFBR1_TGFBR2TGFbHNSCCPrecancer
TGFB1TGFbR1_R2TGFB1_TGFBR1_TGFBR2TGFbLiverHCC
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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
∗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
TGFBR1SNVMissense_Mutationc.1210N>Tp.Asp404Tyrp.D404YP36897protein_codingdeleterious(0)probably_damaging(1)TCGA-AC-A23H-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownPD
TGFBR1SNVMissense_Mutationc.695N>Tp.Glu232Valp.E232VP36897protein_codingdeleterious(0)benign(0.251)TCGA-AO-A12D-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapycyclophosphamideSD
TGFBR1SNVMissense_Mutationc.239G>Ap.Arg80Glnp.R80QP36897protein_codingtolerated(0.49)benign(0.149)TCGA-AR-A2LE-01Breastbreast invasive carcinomaFemale>=65I/IIHormone TherapytamoxiphenPD
TGFBR1SNVMissense_Mutationc.1200N>Gp.Phe400Leup.F400LP36897protein_codingdeleterious(0)probably_damaging(0.964)TCGA-BH-A0B5-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapyadriamycinCR
TGFBR1SNVMissense_Mutationc.559N>Tp.Asp187Tyrp.D187YP36897protein_codingtolerated(0.05)probably_damaging(0.998)TCGA-BH-A0H5-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapycytoxanCR
TGFBR1insertionIn_Frame_Insnovelc.1379_1380insTCCTTGTTCCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCTp.Asn460_Arg461insProCysSerPheLeuLeuLeuHisSerCysLeuCysPheLeup.N460_R461insPCSFLLLHSCLCFLP36897protein_codingTCGA-AN-A0FS-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownSD
TGFBR1insertionFrame_Shift_Insnovelc.434_435insTACTCp.Met146ThrfsTer4p.M146Tfs*4P36897protein_codingTCGA-AR-A0TU-01Breastbreast invasive carcinomaFemale<65I/IIUnspecificDoxorubicinSD
TGFBR1insertionNonsense_Mutationnovelc.656_657insAGGGAAATGAATGACp.Arg219_Phe220insGlyLysTerMetThrp.R219_F220insGK*MTP36897protein_codingTCGA-AR-A0TU-01Breastbreast invasive carcinomaFemale<65I/IIUnspecificDoxorubicinSD
TGFBR1insertionFrame_Shift_Insnovelc.434_435insTACTCp.Met146ThrfsTer4p.M146Tfs*4P36897protein_codingTCGA-AR-A0U0-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
TGFBR1SNVMissense_Mutationnovelc.1465N>Ap.Ala489Thrp.A489TP36897protein_codingdeleterious(0.03)probably_damaging(0.929)TCGA-2W-A8YY-01Cervixcervical & endocervical cancerFemale<65I/IIChemotherapycisplatinCR
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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
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor249565800
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORLY2157299
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORMetelimumabMETELIMUMAB
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor252166689
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORLY-2382770LY-2382770
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitorHESPERADINHESPERADIN19035792
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor178102671
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor223366128GALUNISERTIB
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor249565874
7046TGFBR1DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSORinhibitor249565787VACTOSERTIB
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