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: KIAA0040

Gene summary for KIAA0040

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

KIAA0040

Gene ID

9674

Gene nameKIAA0040
Gene AliasKIAA0040
Cytomap1q25.1
Gene Typeprotein-coding
GO ID

GO:0005575

UniProtAcc

J3QR46


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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
9674KIAA0040LZE4THumanEsophagusESCC1.43e-027.52e-020.0811
9674KIAA0040LZE8THumanEsophagusESCC3.54e-026.02e-020.067
9674KIAA0040P1T-EHumanEsophagusESCC3.92e-022.26e-010.0875
9674KIAA0040P2T-EHumanEsophagusESCC1.02e-214.87e-010.1177
9674KIAA0040P4T-EHumanEsophagusESCC1.07e-029.88e-020.1323
9674KIAA0040P5T-EHumanEsophagusESCC3.36e-069.75e-020.1327
9674KIAA0040P8T-EHumanEsophagusESCC8.26e-031.04e-020.0889
9674KIAA0040P9T-EHumanEsophagusESCC1.02e-053.73e-010.1131
9674KIAA0040P10T-EHumanEsophagusESCC6.49e-429.47e-010.116
9674KIAA0040P12T-EHumanEsophagusESCC3.31e-071.28e-010.1122
9674KIAA0040P15T-EHumanEsophagusESCC1.18e-105.13e-010.1149
9674KIAA0040P16T-EHumanEsophagusESCC3.92e-173.83e-010.1153
9674KIAA0040P17T-EHumanEsophagusESCC1.54e-053.04e-010.1278
9674KIAA0040P20T-EHumanEsophagusESCC1.48e-124.26e-010.1124
9674KIAA0040P21T-EHumanEsophagusESCC2.37e-245.73e-010.1617
9674KIAA0040P22T-EHumanEsophagusESCC1.60e-111.63e-010.1236
9674KIAA0040P23T-EHumanEsophagusESCC7.65e-043.33e-010.108
9674KIAA0040P24T-EHumanEsophagusESCC1.78e-091.07e-010.1287
9674KIAA0040P26T-EHumanEsophagusESCC2.99e-287.39e-010.1276
9674KIAA0040P27T-EHumanEsophagusESCC9.33e-151.19e-010.1055
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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
ProstateThe 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.BPH: Benign Prostatic Hyperplasia
∗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
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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
KIAA0040SNVMissense_Mutationnovelc.21C>Ap.Phe7Leup.F7Lprotein_codingdeleterious(0)probably_damaging(0.997)TCGA-AN-A046-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
KIAA0040SNVMissense_Mutationnovelc.154N>Gp.Trp52Glyp.W52Gprotein_codingtolerated(0.12)possibly_damaging(0.661)TCGA-C8-A3M8-01Breastbreast invasive carcinomaFemale>=65I/IIHormone TherapytamoxiphenCR
KIAA0040deletionFrame_Shift_Delrs764422998c.204_205delNNp.Lys69GlufsTer8p.K69Efs*8protein_codingTCGA-C8-A8HQ-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownSD
KIAA0040deletionFrame_Shift_Delrs767648441c.207delNp.Lys70ArgfsTer32p.K70Rfs*32protein_codingTCGA-DS-A7WF-01Cervixcervical & endocervical cancerFemale<65I/IIChemotherapycisplatinPD
KIAA0040deletionFrame_Shift_Delrs756639306c.195_205delNNNNNNNNNNNp.Asn65LysfsTer9p.N65Kfs*9protein_codingTCGA-DS-A7WF-01Cervixcervical & endocervical cancerFemale<65I/IIChemotherapycisplatinPD
KIAA0040insertionIn_Frame_Insnovelc.224_225insTAAp.Lys74_Lys75insAsnp.K74_K75insNprotein_codingTCGA-MA-AA41-01Cervixcervical & endocervical cancerFemale<65I/IIUnknownUnknownSD
KIAA0040deletionFrame_Shift_Delrs767648441c.207delNp.Lys70ArgfsTer32p.K70Rfs*32protein_codingTCGA-ZJ-AAXI-01Cervixcervical & endocervical cancerFemale>=65I/IIUnknownUnknownSD
KIAA0040deletionFrame_Shift_Delrs767648441c.207delNp.Lys70ArgfsTer32p.K70Rfs*32protein_codingTCGA-A6-3810-01Colorectumcolon adenocarcinomaMale<65I/IIUnknownUnknownSD
KIAA0040deletionFrame_Shift_Delrs756639306c.195_205delNNNNNNNNNNNp.Asn65LysfsTer9p.N65Kfs*9protein_codingTCGA-A6-3810-01Colorectumcolon adenocarcinomaMale<65I/IIUnknownUnknownSD
KIAA0040insertionIn_Frame_Insnovelc.225_226insAAGAAGp.Lys74_Lys75dupp.K74_K75dupprotein_codingTCGA-AA-3989-01Colorectumcolon adenocarcinomaMale>=65III/IVUnknownUnknownPD
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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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