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: JOSD2

Gene summary for JOSD2

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

JOSD2

Gene ID

126119

Gene nameJosephin domain containing 2
Gene AliasSBBI54
Cytomap19q13.33
Gene Typeprotein-coding
GO ID

GO:0006464

UniProtAcc

A0A024R4G2


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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
126119JOSD2LZE2THumanEsophagusESCC2.22e-038.13e-010.082
126119JOSD2LZE4THumanEsophagusESCC1.20e-185.94e-010.0811
126119JOSD2LZE5THumanEsophagusESCC1.18e-054.10e-010.0514
126119JOSD2LZE7THumanEsophagusESCC5.00e-103.97e-010.0667
126119JOSD2LZE8THumanEsophagusESCC8.50e-204.45e-010.067
126119JOSD2LZE20THumanEsophagusESCC1.38e-051.91e-010.0662
126119JOSD2LZE22D1HumanEsophagusHGIN8.96e-031.21e-010.0595
126119JOSD2LZE22THumanEsophagusESCC6.95e-094.10e-010.068
126119JOSD2LZE24THumanEsophagusESCC1.75e-226.67e-010.0596
126119JOSD2LZE21THumanEsophagusESCC1.14e-024.87e-010.0655
126119JOSD2LZE6THumanEsophagusESCC5.04e-136.16e-010.0845
126119JOSD2P1T-EHumanEsophagusESCC3.82e-156.57e-010.0875
126119JOSD2P2T-EHumanEsophagusESCC7.78e-244.79e-010.1177
126119JOSD2P4T-EHumanEsophagusESCC2.01e-276.80e-010.1323
126119JOSD2P5T-EHumanEsophagusESCC6.90e-274.85e-010.1327
126119JOSD2P8T-EHumanEsophagusESCC8.53e-458.74e-010.0889
126119JOSD2P9T-EHumanEsophagusESCC2.24e-275.80e-010.1131
126119JOSD2P10T-EHumanEsophagusESCC1.52e-246.08e-010.116
126119JOSD2P11T-EHumanEsophagusESCC3.07e-341.16e+000.1426
126119JOSD2P12T-EHumanEsophagusESCC4.88e-214.66e-010.1122
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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:00706463EsophagusHGINprotein modification by small protein removal34/2587157/187234.68e-034.02e-0234
GO:007064612EsophagusESCCprotein modification by small protein removal95/8552157/187231.25e-048.56e-0495
GO:00165793EsophagusESCCprotein deubiquitination79/8552139/187235.23e-031.97e-0279
GO:00706461LiverHCCprotein modification by small protein removal91/7958157/187236.50e-055.92e-0491
GO:00165791LiverHCCprotein deubiquitination78/7958139/187238.13e-044.87e-0378
GO:00706462Oral cavityOSCCprotein modification by small protein removal77/7305157/187236.55e-032.43e-0277
GO:00706464SkincSCCprotein modification by small protein removal55/4864157/187237.29e-033.46e-0255
GO:00706465ThyroidPTCprotein modification by small protein removal71/5968157/187233.03e-042.12e-0371
GO:00165794ThyroidPTCprotein deubiquitination59/5968139/187235.50e-032.50e-0259
GO:007064613ThyroidATCprotein modification by small protein removal71/6293157/187231.59e-037.99e-0371
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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
JOSD2SNVMissense_Mutationc.146N>Tp.Arg49Metp.R49MQ8TAC2protein_codingdeleterious(0.01)probably_damaging(0.917)TCGA-CK-4951-01Colorectumcolon adenocarcinomaFemale>=65I/IIUnknownUnknownPD
JOSD2SNVMissense_Mutationnovelc.500N>Gp.Leu167Argp.L167RQ8TAC2protein_codingtolerated(0.44)benign(0.337)TCGA-AJ-A23O-01Endometriumuterine corpus endometrioid carcinomaFemale>=65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationnovelc.4N>Cp.Ser2Prop.S2PQ8TAC2protein_codingdeleterious_low_confidence(0.03)benign(0.063)TCGA-AP-A1DV-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationnovelc.176N>Gp.His59Argp.H59RQ8TAC2protein_codingdeleterious(0.03)probably_damaging(0.987)TCGA-AP-A1E0-01Endometriumuterine corpus endometrioid carcinomaFemale<65III/IVChemotherapypaclitaxelSD
JOSD2SNVMissense_Mutationnovelc.269G>Tp.Arg90Metp.R90MQ8TAC2protein_codingdeleterious(0)probably_damaging(0.996)TCGA-BK-A6W3-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationrs201074779c.434C>Tp.Ala145Valp.A145VQ8TAC2protein_codingtolerated(0.15)possibly_damaging(0.553)TCGA-BS-A0UF-01Endometriumuterine corpus endometrioid carcinomaFemale>=65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationrs370080842c.146G>Ap.Arg49Lysp.R49KQ8TAC2protein_codingtolerated(0.09)possibly_damaging(0.514)TCGA-BS-A0UF-01Endometriumuterine corpus endometrioid carcinomaFemale>=65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationrs752079881c.163N>Tp.Arg55Trpp.R55WQ8TAC2protein_codingtolerated(0.68)possibly_damaging(0.787)TCGA-D1-A175-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIChemotherapypaclitaxelSD
JOSD2SNVMissense_Mutationrs529983360c.485N>Tp.Ala162Valp.A162VQ8TAC2protein_codingtolerated(0.3)benign(0.005)TCGA-EO-A22R-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIUnknownUnknownSD
JOSD2SNVMissense_Mutationnovelc.271N>Gp.Arg91Glyp.R91GQ8TAC2protein_codingdeleterious(0.05)probably_damaging(0.987)TCGA-UB-A7MB-01Liverliver hepatocellular carcinomaMale<65I/IITargeted Molecular therapysorafenibPD
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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
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