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: ANKHD1

Gene summary for ANKHD1

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

ANKHD1

Gene ID

54882

Gene nameankyrin repeat and KH domain containing 1
Gene AliasMASK
Cytomap5q31.3
Gene Typeprotein-coding
GO ID

GO:0002376

UniProtAcc

Q8IWZ3


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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
54882ANKHD1GSM5353243_PA_PR5261_T1_S23_L002HumanProstateTumor3.47e-05-2.52e-010.1545
54882ANKHD1GSM5353244_PA_PR5261_T2_S24_L002HumanProstateTumor3.92e-03-2.44e-010.1569
54882ANKHD1P1_S1_AKHumanSkinAK2.59e-659.66e-01-0.3399
54882ANKHD1P2_S3_AKHumanSkinAK4.37e-669.36e-01-0.3287
54882ANKHD1P2_S4_SCCISHumanSkinSCCIS7.30e-255.68e-01-0.3043
54882ANKHD1P3_S6_AKHumanSkinAK9.30e-327.90e-01-0.3256
54882ANKHD1P4_S8_cSCCHumanSkincSCC2.04e-286.79e-01-0.3095
54882ANKHD1P5_S10_cSCCHumanSkincSCC1.30e-476.51e-01-0.299
54882ANKHD1P1_cSCCHumanSkincSCC3.28e-032.00e-010.0292
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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
EndometriumThe 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.AEH: Atypical endometrial hyperplasia
EEC: Endometrioid 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
LungThe 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.AAH: Atypical adenomatous hyperplasia
AIS: Adenocarcinoma in situ
IAC: Invasive lung adenocarcinoma
MIA: Minimally invasive adenocarcinoma
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
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
∗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
ANKHD1SNVMissense_Mutationnovelc.1635N>Tp.Glu545Aspp.E545DQ8IWZ3protein_codingdeleterious(0.01)probably_damaging(0.989)TCGA-A1-A0SI-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownSD
ANKHD1SNVMissense_Mutationnovelc.6194N>Cp.His2065Prop.H2065PQ8IWZ3protein_codingtolerated_low_confidence(0.32)benign(0.026)TCGA-A2-A0CS-01Breastbreast invasive carcinomaFemale>=65III/IVHormone TherapyanastrozoleSD
ANKHD1SNVMissense_Mutationrs770326358c.817A>Cp.Ile273Leup.I273LQ8IWZ3protein_codingtolerated(0.09)probably_damaging(0.956)TCGA-A2-A0CV-01Breastbreast invasive carcinomaFemale<65I/IIChemotherapycytoxanSD
ANKHD1SNVMissense_Mutationc.1529C>Gp.Thr510Serp.T510SQ8IWZ3protein_codingtolerated(0.08)probably_damaging(0.989)TCGA-A2-A1G6-01Breastbreast invasive carcinomaFemale<65III/IVChemotherapyadriamycinSD
ANKHD1SNVMissense_Mutationnovelc.4187N>Ap.Thr1396Lysp.T1396KQ8IWZ3protein_codingdeleterious(0)probably_damaging(0.987)TCGA-A7-A26I-01Breastbreast invasive carcinomaFemale>=65I/IIChemotherapycytoxanSD
ANKHD1SNVMissense_Mutationrs755308583c.2843N>Ap.Ser948Tyrp.S948YQ8IWZ3protein_codingdeleterious_low_confidence(0.02)possibly_damaging(0.758)TCGA-AN-A046-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ANKHD1SNVMissense_Mutationc.2968C>Gp.Gln990Glup.Q990EQ8IWZ3protein_codingdeleterious_low_confidence(0.03)possibly_damaging(0.9)TCGA-B6-A0RQ-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ANKHD1SNVMissense_Mutationc.3946G>Tp.Ala1316Serp.A1316SQ8IWZ3protein_codingdeleterious(0.03)benign(0.106)TCGA-BH-A0DK-01Breastbreast invasive carcinomaFemale<65I/IIHormone TherapytamoxiphenSD
ANKHD1SNVMissense_Mutationc.524T>Cp.Leu175Prop.L175PQ8IWZ3protein_codingdeleterious_low_confidence(0)probably_damaging(0.995)TCGA-BH-A18G-01Breastbreast invasive carcinomaFemale>=65I/IIUnknownUnknownSD
ANKHD1SNVMissense_Mutationc.5539N>Gp.Leu1847Valp.L1847VQ8IWZ3protein_codingdeleterious_low_confidence(0)benign(0.301)TCGA-BH-A18P-01Breastbreast invasive carcinomaFemale<65I/IIUnknownUnknownPD
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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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