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: ERCC6L2

Gene summary for ERCC6L2

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

ERCC6L2

Gene ID

375748

Gene nameERCC excision repair 6 like 2
Gene AliasBMFS2
Cytomap9q22.32
Gene Typeprotein-coding
GO ID

GO:0000302

UniProtAcc

Q5T890


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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
375748ERCC6L2LZE4THumanEsophagusESCC3.97e-041.55e-010.0811
375748ERCC6L2LZE7THumanEsophagusESCC2.20e-063.07e-010.0667
375748ERCC6L2LZE24THumanEsophagusESCC1.61e-122.83e-010.0596
375748ERCC6L2P1T-EHumanEsophagusESCC1.09e-032.32e-010.0875
375748ERCC6L2P2T-EHumanEsophagusESCC3.97e-315.98e-010.1177
375748ERCC6L2P4T-EHumanEsophagusESCC1.84e-193.00e-010.1323
375748ERCC6L2P5T-EHumanEsophagusESCC2.00e-051.12e-010.1327
375748ERCC6L2P8T-EHumanEsophagusESCC1.38e-141.90e-010.0889
375748ERCC6L2P9T-EHumanEsophagusESCC1.25e-131.81e-010.1131
375748ERCC6L2P10T-EHumanEsophagusESCC1.42e-274.66e-010.116
375748ERCC6L2P11T-EHumanEsophagusESCC7.44e-144.99e-010.1426
375748ERCC6L2P12T-EHumanEsophagusESCC4.63e-213.56e-010.1122
375748ERCC6L2P15T-EHumanEsophagusESCC1.38e-122.72e-010.1149
375748ERCC6L2P16T-EHumanEsophagusESCC1.43e-243.49e-010.1153
375748ERCC6L2P17T-EHumanEsophagusESCC1.66e-062.26e-010.1278
375748ERCC6L2P20T-EHumanEsophagusESCC2.35e-091.74e-010.1124
375748ERCC6L2P21T-EHumanEsophagusESCC4.10e-152.91e-010.1617
375748ERCC6L2P22T-EHumanEsophagusESCC1.53e-111.86e-010.1236
375748ERCC6L2P23T-EHumanEsophagusESCC4.34e-082.69e-010.108
375748ERCC6L2P24T-EHumanEsophagusESCC3.85e-101.54e-010.1287
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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
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:0006979111EsophagusESCCresponse to oxidative stress303/8552446/187237.15e-221.30e-19303
GO:0062197111EsophagusESCCcellular response to chemical stress234/8552337/187235.37e-195.97e-17234
GO:0034599111EsophagusESCCcellular response to oxidative stress197/8552288/187233.76e-152.15e-13197
GO:0000302111EsophagusESCCresponse to reactive oxygen species150/8552222/187233.06e-111.02e-09150
GO:003461420EsophagusESCCcellular response to reactive oxygen species103/8552155/187231.34e-072.17e-06103
GO:00069797LiverNAFLDresponse to oxidative stress78/1882446/187237.85e-074.29e-0578
GO:00621977LiverNAFLDcellular response to chemical stress54/1882337/187233.83e-045.73e-0354
GO:00003027LiverNAFLDresponse to reactive oxygen species38/1882222/187237.63e-049.63e-0338
GO:00345997LiverNAFLDcellular response to oxidative stress46/1882288/187231.07e-031.25e-0246
GO:000697922LiverHCCresponse to oxidative stress281/7958446/187239.75e-191.24e-16281
GO:006219722LiverHCCcellular response to chemical stress216/7958337/187236.86e-165.44e-14216
GO:003459922LiverHCCcellular response to oxidative stress183/7958288/187233.65e-131.93e-11183
GO:000030222LiverHCCresponse to reactive oxygen species144/7958222/187231.24e-115.09e-10144
GO:003461412LiverHCCcellular response to reactive oxygen species102/7958155/187233.70e-099.89e-08102
GO:0006979113ThyroidPTCresponse to oxidative stress234/5968446/187236.97e-209.77e-18234
GO:0062197113ThyroidPTCcellular response to chemical stress180/5968337/187231.36e-161.16e-14180
GO:0034599113ThyroidPTCcellular response to oxidative stress151/5968288/187232.82e-131.43e-11151
GO:0000302113ThyroidPTCresponse to reactive oxygen species121/5968222/187232.10e-129.26e-11121
GO:0034614112ThyroidPTCcellular response to reactive oxygen species82/5968155/187234.32e-089.27e-0782
GO:000697934ThyroidATCresponse to oxidative stress246/6293446/187232.98e-216.09e-19246
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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
ERCC6L2SNVMissense_Mutationrs866677625c.625N>Tp.Ser209Leup.S209Lprotein_codingtolerated(0.74)benign(0)TCGA-AN-A046-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ERCC6L2SNVMissense_Mutationc.2015C>Tp.Ala672Valp.A672VQ5T890protein_codingdeleterious(0.03)benign(0.011)TCGA-AN-A0AK-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ERCC6L2SNVMissense_Mutationc.651C>Tp.His218Tyrp.H218Yprotein_codingtolerated(0.31)benign(0.007)TCGA-AO-A03P-01Breastbreast invasive carcinomaFemale<65I/IIHormone TherapyletrozolePD
ERCC6L2SNVMissense_Mutationrs200972525c.1859N>Gp.Asn620Serp.N620SQ5T890protein_codingtolerated(0.09)benign(0.125)TCGA-EW-A1IZ-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapytaxotereSD
ERCC6L2insertionFrame_Shift_Insnovelc.793_794insGTGTTTTTp.Leu265ArgfsTer34p.L265Rfs*34Q5T890protein_codingTCGA-AR-A0U0-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ERCC6L2insertionIn_Frame_Insnovelc.795_796insTTTp.Leu265_Arg266insPhep.L265_R266insFQ5T890protein_codingTCGA-AR-A0U0-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ERCC6L2insertionIn_Frame_Insnovelc.1293_1294insAAAAAAATTCTAp.Thr431_Cys432insLysLysIleLeup.T431_C432insKKILQ5T890protein_codingTCGA-B6-A0IN-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownPD
ERCC6L2insertionNonsense_Mutationnovelc.1295_1296insAGGTTTATTTGAAAGTGAAATTATACTTp.Cys432Terp.C432*Q5T890protein_codingTCGA-B6-A0IN-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownPD
ERCC6L2deletionFrame_Shift_Delnovelc.1345delNp.Gly449ValfsTer4p.G449Vfs*4Q5T890protein_codingTCGA-D8-A27V-01Breastbreast invasive carcinomaFemale<65I/IIHormone TherapytamoxiphenSD
ERCC6L2SNVMissense_Mutationc.418N>Ap.Glu140Lysp.E140KQ5T890protein_codingdeleterious(0.03)probably_damaging(0.968)TCGA-IR-A3LI-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
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