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: GJB1

Gene summary for GJB1

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

GJB1

Gene ID

2705

Gene namegap junction protein beta 1
Gene AliasCMTX
CytomapXq13.1
Gene Typeprotein-coding
GO ID

GO:0000003

UniProtAcc

P08034


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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
2705GJB1HTA11_2487_2000001011HumanColorectumSER3.05e-186.38e-01-0.1808
2705GJB1HTA11_1938_2000001011HumanColorectumAD9.90e-197.15e-01-0.0811
2705GJB1HTA11_78_2000001011HumanColorectumAD8.22e-134.50e-01-0.1088
2705GJB1HTA11_347_2000001011HumanColorectumAD1.02e-347.58e-01-0.1954
2705GJB1HTA11_411_2000001011HumanColorectumSER1.40e-087.53e-01-0.2602
2705GJB1HTA11_2112_2000001011HumanColorectumSER1.04e-037.27e-01-0.2196
2705GJB1HTA11_3361_2000001011HumanColorectumAD1.52e-083.80e-01-0.1207
2705GJB1HTA11_83_2000001011HumanColorectumSER1.53e-177.23e-01-0.1526
2705GJB1HTA11_696_2000001011HumanColorectumAD7.70e-206.22e-01-0.1464
2705GJB1HTA11_866_2000001011HumanColorectumAD2.10e-133.98e-01-0.1001
2705GJB1HTA11_1391_2000001011HumanColorectumAD1.19e-206.46e-01-0.059
2705GJB1HTA11_5216_2000001011HumanColorectumSER1.12e-023.67e-01-0.1462
2705GJB1HTA11_546_2000001011HumanColorectumAD2.15e-044.20e-01-0.0842
2705GJB1HTA11_9341_2000001011HumanColorectumSER2.79e-024.58e-01-0.00410000000000005
2705GJB1HTA11_7862_2000001011HumanColorectumAD3.91e-074.65e-01-0.0179
2705GJB1HTA11_866_3004761011HumanColorectumAD2.78e-175.15e-010.096
2705GJB1HTA11_4255_2000001011HumanColorectumSER4.22e-076.47e-010.0446
2705GJB1HTA11_9408_2000001011HumanColorectumAD6.95e-057.47e-010.0451
2705GJB1HTA11_8622_2000001021HumanColorectumSER4.55e-127.70e-010.0528
2705GJB1HTA11_7663_2000001011HumanColorectumSER3.01e-128.38e-010.0131
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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
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
∗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:0045216ColorectumADcell-cell junction organization80/3918200/187235.57e-104.58e-0880
GO:0034329ColorectumADcell junction assembly136/3918420/187232.02e-081.15e-06136
GO:0007043ColorectumADcell-cell junction assembly57/3918146/187234.18e-071.61e-0557
GO:0015931ColorectumADnucleobase-containing compound transport73/3918222/187232.02e-054.10e-0473
GO:0061458ColorectumADreproductive system development116/3918427/187231.11e-031.01e-02116
GO:0048608ColorectumADreproductive structure development114/3918424/187231.78e-031.47e-02114
GO:0015748ColorectumADorganophosphate ester transport42/3918140/187237.04e-034.31e-0242
GO:00452161ColorectumSERcell-cell junction organization63/2897200/187239.15e-097.80e-0763
GO:00070431ColorectumSERcell-cell junction assembly45/2897146/187232.23e-069.31e-0545
GO:00343291ColorectumSERcell junction assembly100/2897420/187234.23e-061.61e-04100
GO:00159311ColorectumSERnucleobase-containing compound transport54/2897222/187233.65e-045.67e-0354
GO:00614581ColorectumSERreproductive system development87/2897427/187233.69e-033.07e-0287
GO:00486081ColorectumSERreproductive structure development85/2897424/187236.33e-034.56e-0285
GO:00452162ColorectumMSScell-cell junction organization69/3467200/187235.07e-082.70e-0669
GO:00343292ColorectumMSScell junction assembly120/3467420/187232.51e-071.07e-05120
GO:00159312ColorectumMSSnucleobase-containing compound transport70/3467222/187231.92e-066.01e-0570
GO:00070432ColorectumMSScell-cell junction assembly50/3467146/187234.24e-061.21e-0450
GO:00614582ColorectumMSSreproductive system development115/3467427/187239.86e-062.39e-04115
GO:00486082ColorectumMSSreproductive structure development113/3467424/187231.94e-054.18e-04113
GO:00452163ColorectumMSI-Hcell-cell junction organization28/1319200/187233.82e-048.73e-0328
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check button Enriched KEGG pathways.
Pathway IDTissueDisease StageDescriptionGene RatioBg Ratiopvaluep.adjustqvalueCount
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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
∗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
GJB1SNVMissense_Mutationrs104894823c.254N>Gp.Ser85Cysp.S85CP08034protein_codingdeleterious(0)probably_damaging(0.991)TCGA-AC-A23H-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownPD
GJB1SNVMissense_Mutationc.238C>Ap.Gln80Lysp.Q80KP08034protein_codingdeleterious(0)probably_damaging(0.999)TCGA-4J-AA1J-01Cervixcervical & endocervical cancerFemale<65I/IIUnknownUnknownSD
GJB1SNVMissense_Mutationc.304N>Cp.Glu102Glnp.E102QP08034protein_codingdeleterious(0.01)possibly_damaging(0.783)TCGA-JW-A5VL-01Cervixcervical & endocervical cancerFemale<65I/IIUnknownUnknownSD
GJB1SNVMissense_Mutationrs863224973c.319C>Tp.Arg107Trpp.R107WP08034protein_codingdeleterious(0.01)possibly_damaging(0.892)TCGA-MA-AA3W-01Cervixcervical & endocervical cancerFemale<65I/IIChemotherapycisplatinCR
GJB1SNVMissense_Mutationnovelc.751N>Gp.Leu251Valp.L251VP08034protein_codingtolerated(0.19)possibly_damaging(0.828)TCGA-AA-3872-01Colorectumcolon adenocarcinomaMale<65III/IVUnknownUnknownSD
GJB1SNVMissense_Mutationrs749796053c.698N>Tp.Ser233Leup.S233LP08034protein_codingtolerated(0.13)benign(0.003)TCGA-AA-A022-01Colorectumcolon adenocarcinomaFemale>=65I/IIUnknownUnknownSD
GJB1SNVMissense_Mutationrs748095370c.508G>Ap.Val170Ilep.V170IP08034protein_codingtolerated(0.37)benign(0.005)TCGA-AY-A54L-01Colorectumcolon adenocarcinomaFemale>=65I/IIUnknownUnknownPD
GJB1SNVMissense_Mutationc.329N>Cp.Gly110Alap.G110AP08034protein_codingtolerated(0.06)benign(0.005)TCGA-CK-4950-01Colorectumcolon adenocarcinomaFemale>=65III/IVChemotherapyfolfoxSD
GJB1SNVMissense_Mutationrs201697702c.671G>Ap.Arg224Hisp.R224HP08034protein_codingtolerated(0.14)benign(0)TCGA-QG-A5YV-01Colorectumcolon adenocarcinomaFemale<65III/IVChemotherapyxelodaCR
GJB1SNVMissense_Mutationc.793C>Tp.Arg265Cysp.R265CP08034protein_codingtolerated(0.1)possibly_damaging(0.749)TCGA-WS-AB45-01Colorectumcolon adenocarcinomaFemale<65I/IIUnknownUnknownSD
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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
2705GJB1ION CHANNEL, DRUGGABLE GENOME, TRANSPORTERinhibitor135652731
2705GJB1ION CHANNEL, DRUGGABLE GENOME, TRANSPORTERinhibitor178100972CARBENOXOLONE
2705GJB1ION CHANNEL, DRUGGABLE GENOME, TRANSPORTERinhibitor178101095OCTANOL
2705GJB1ION CHANNEL, DRUGGABLE GENOME, TRANSPORTERinhibitor135650269
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