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: BTBD2

Gene summary for BTBD2

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

BTBD2

Gene ID

55643

Gene nameBTB domain containing 2
Gene AliasBTBD2
Cytomap19p13.3
Gene Typeprotein-coding
GO ID

GO:0007275

UniProtAcc

Q9BX70


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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
55643BTBD2HTA11_3410_2000001011HumanColorectumAD4.89e-022.38e-010.0155
55643BTBD2HTA11_347_2000001011HumanColorectumAD5.37e-063.87e-01-0.1954
55643BTBD2HTA11_696_2000001011HumanColorectumAD7.05e-063.56e-01-0.1464
55643BTBD2HTA11_866_2000001011HumanColorectumAD4.40e-022.73e-01-0.1001
55643BTBD2HTA11_1391_2000001011HumanColorectumAD8.61e-106.89e-01-0.059
55643BTBD2HTA11_546_2000001011HumanColorectumAD2.34e-066.08e-01-0.0842
55643BTBD2HTA11_10711_2000001011HumanColorectumAD1.01e-034.75e-010.0338
55643BTBD2HTA11_7696_3000711011HumanColorectumAD6.38e-278.65e-010.0674
55643BTBD2HTA11_6818_2000001011HumanColorectumAD2.24e-036.75e-010.0112
55643BTBD2HTA11_6818_2000001021HumanColorectumAD2.62e-045.23e-010.0588
55643BTBD2HTA11_99999971662_82457HumanColorectumMSS1.51e-023.35e-010.3859
55643BTBD2HTA11_99999974143_84620HumanColorectumMSS4.70e-032.86e-010.3005
55643BTBD2A015-C-203HumanColorectumFAP1.11e-05-6.49e-02-0.1294
55643BTBD2A002-C-201HumanColorectumFAP4.35e-02-6.44e-020.0324
55643BTBD2A002-C-205HumanColorectumFAP3.27e-06-1.77e-01-0.1236
55643BTBD2A015-C-006HumanColorectumFAP3.25e-033.03e-02-0.0994
55643BTBD2A002-C-114HumanColorectumFAP2.96e-03-3.25e-02-0.1561
55643BTBD2A015-C-104HumanColorectumFAP2.17e-071.56e-02-0.1899
55643BTBD2A002-C-016HumanColorectumFAP2.01e-02-6.99e-020.0521
55643BTBD2A002-C-116HumanColorectumFAP1.75e-08-1.24e-01-0.0452
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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
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
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:004343420EsophagusHGINresponse to peptide hormone79/2587414/187231.60e-031.79e-0279
GO:00059969EsophagusESCCmonosaccharide metabolic process159/8552257/187231.11e-071.81e-06159
GO:00193189EsophagusESCChexose metabolic process147/8552237/187232.63e-073.94e-06147
GO:0043434111EsophagusESCCresponse to peptide hormone234/8552414/187234.93e-065.21e-05234
GO:003286818EsophagusESCCresponse to insulin156/8552264/187237.21e-067.20e-05156
GO:00060069EsophagusESCCglucose metabolic process119/8552196/187231.51e-051.36e-04119
GO:003286821LiverHCCresponse to insulin172/7958264/187237.14e-144.23e-12172
GO:000599621LiverHCCmonosaccharide metabolic process167/7958257/187232.31e-131.25e-11167
GO:001931821LiverHCChexose metabolic process155/7958237/187237.63e-133.90e-11155
GO:004343422LiverHCCresponse to peptide hormone247/7958414/187239.55e-134.77e-11247
GO:000600621LiverHCCglucose metabolic process128/7958196/187238.60e-113.06e-09128
GO:004343419Oral cavityOSCCresponse to peptide hormone208/7305414/187231.83e-062.35e-05208
GO:003286816Oral cavityOSCCresponse to insulin138/7305264/187237.54e-068.15e-05138
GO:00059968Oral cavityOSCCmonosaccharide metabolic process129/7305257/187231.63e-041.13e-03129
GO:00193188Oral cavityOSCChexose metabolic process118/7305237/187234.53e-042.73e-03118
GO:00060068Oral cavityOSCCglucose metabolic process98/7305196/187231.10e-035.63e-0398
GO:0043434110Oral cavityLPresponse to peptide hormone138/4623414/187234.00e-055.87e-04138
GO:000599613Oral cavityLPmonosaccharide metabolic process86/4623257/187239.13e-047.79e-0386
GO:003286817Oral cavityLPresponse to insulin88/4623264/187239.19e-047.82e-0388
GO:001931813Oral cavityLPhexose metabolic process78/4623237/187232.55e-031.80e-0278
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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
BTBD2SNVMissense_Mutationnovelc.833N>Ap.Arg278Hisp.R278HQ9BX70protein_codingdeleterious(0)probably_damaging(0.993)TCGA-AC-A4ZE-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownSD
BTBD2SNVMissense_Mutationc.689N>Ap.Arg230Glnp.R230QQ9BX70protein_codingdeleterious(0.05)probably_damaging(0.994)TCGA-D8-A1XK-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapydoxorubicine+cyclophosphamideSD
BTBD2SNVMissense_Mutationrs746291159c.1183T>Gp.Phe395Valp.F395VQ9BX70protein_codingdeleterious(0.01)possibly_damaging(0.855)TCGA-EW-A1J2-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapytaxotereSD
BTBD2insertionNonsense_Mutationnovelc.488_489insTTCACTGTGTTAGTCAGGATGp.Leu163_Pro164insSerLeuCysTerSerGlyTrpp.L163_P164insSLC*SGWQ9BX70protein_codingTCGA-A8-A092-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapypaclitaxelCR
BTBD2deletionFrame_Shift_Delnovelc.1552delNp.Ile518SerfsTer22p.I518Sfs*22Q9BX70protein_codingTCGA-EW-A2FV-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapydocetaxelSD
BTBD2SNVMissense_Mutationnovelc.824N>Cp.Leu275Prop.L275PQ9BX70protein_codingdeleterious(0)probably_damaging(1)TCGA-A6-6780-01Colorectumcolon adenocarcinomaMale>=65I/IIUnknownUnknownSD
BTBD2SNVMissense_Mutationc.686N>Tp.Ala229Valp.A229VQ9BX70protein_codingdeleterious(0)probably_damaging(0.998)TCGA-CK-4951-01Colorectumcolon adenocarcinomaFemale>=65I/IIUnknownUnknownPD
BTBD2SNVMissense_Mutationrs141098024c.412N>Ap.Val138Metp.V138MQ9BX70protein_codingdeleterious(0)probably_damaging(0.972)TCGA-DM-A1HB-01Colorectumcolon adenocarcinomaMale>=65III/IVUnknownUnknownSD
BTBD2SNVMissense_Mutationc.1127N>Ap.Arg376Hisp.R376HQ9BX70protein_codingdeleterious(0)probably_damaging(1)TCGA-G4-6317-01Colorectumcolon adenocarcinomaFemale<65III/IVChemotherapyfluorouracilPD
BTBD2SNVMissense_Mutationc.1044N>Ap.His348Glnp.H348QQ9BX70protein_codingdeleterious(0.01)possibly_damaging(0.899)TCGA-G4-6628-01Colorectumcolon adenocarcinomaMale>=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
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