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: PITHD1

Gene summary for PITHD1

check button Gene summary.

Gene informationSpeciesHuman
Gene symbol

PITHD1

Gene ID

57095

Gene namePITH domain containing 1
Gene AliasC1orf128
Cytomap1p36.11
Gene Typeprotein-coding
GO ID

GO:0000003

UniProtAcc

Q9GZP4


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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
57095PITHD1LZE4THumanEsophagusESCC1.15e-142.45e-010.0811
57095PITHD1LZE5THumanEsophagusESCC1.11e-034.33e-020.0514
57095PITHD1LZE8THumanEsophagusESCC1.98e-02-1.27e-010.067
57095PITHD1LZE20THumanEsophagusESCC2.16e-114.52e-010.0662
57095PITHD1LZE22D1HumanEsophagusHGIN1.73e-041.06e-010.0595
57095PITHD1LZE24THumanEsophagusESCC1.29e-287.63e-010.0596
57095PITHD1P1T-EHumanEsophagusESCC1.51e-066.01e-010.0875
57095PITHD1P2T-EHumanEsophagusESCC1.09e-449.23e-010.1177
57095PITHD1P4T-EHumanEsophagusESCC9.47e-328.40e-010.1323
57095PITHD1P5T-EHumanEsophagusESCC1.07e-112.73e-010.1327
57095PITHD1P8T-EHumanEsophagusESCC2.56e-265.85e-010.0889
57095PITHD1P9T-EHumanEsophagusESCC3.38e-092.74e-010.1131
57095PITHD1P10T-EHumanEsophagusESCC3.92e-539.76e-010.116
57095PITHD1P11T-EHumanEsophagusESCC1.24e-148.14e-010.1426
57095PITHD1P12T-EHumanEsophagusESCC1.56e-336.81e-010.1122
57095PITHD1P15T-EHumanEsophagusESCC2.70e-357.89e-010.1149
57095PITHD1P16T-EHumanEsophagusESCC1.54e-264.64e-010.1153
57095PITHD1P17T-EHumanEsophagusESCC3.92e-074.89e-010.1278
57095PITHD1P19T-EHumanEsophagusESCC1.28e-061.06e+000.1662
57095PITHD1P20T-EHumanEsophagusESCC6.64e-348.32e-010.1124
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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
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:004217627EsophagusHGINregulation of protein catabolic process119/2587391/187238.09e-182.43e-15119
GO:001049826EsophagusHGINproteasomal protein catabolic process139/2587490/187231.20e-173.41e-15139
GO:190336227EsophagusHGINregulation of cellular protein catabolic process81/2587255/187231.16e-131.93e-1181
GO:190305027EsophagusHGINregulation of proteolysis involved in cellular protein catabolic process70/2587221/187236.21e-127.76e-1070
GO:006113627EsophagusHGINregulation of proteasomal protein catabolic process60/2587187/187231.10e-101.12e-0860
GO:003009927EsophagusHGINmyeloid cell differentiation83/2587381/187231.26e-053.52e-0483
GO:004563725EsophagusHGINregulation of myeloid cell differentiation49/2587210/187231.28e-042.61e-0349
GO:004563917EsophagusHGINpositive regulation of myeloid cell differentiation26/2587103/187231.40e-031.63e-0226
GO:190370620EsophagusHGINregulation of hemopoiesis69/2587367/187234.39e-033.86e-0269
GO:0010498111EsophagusESCCproteasomal protein catabolic process369/8552490/187231.13e-411.80e-38369
GO:0042176111EsophagusESCCregulation of protein catabolic process280/8552391/187238.65e-262.39e-23280
GO:1903362111EsophagusESCCregulation of cellular protein catabolic process188/8552255/187235.12e-206.62e-18188
GO:1903050111EsophagusESCCregulation of proteolysis involved in cellular protein catabolic process163/8552221/187231.44e-171.27e-15163
GO:0061136111EsophagusESCCregulation of proteasomal protein catabolic process142/8552187/187232.40e-172.00e-15142
GO:0030099111EsophagusESCCmyeloid cell differentiation232/8552381/187231.22e-092.90e-08232
GO:1903706110EsophagusESCCregulation of hemopoiesis201/8552367/187232.60e-041.58e-03201
GO:004563918EsophagusESCCpositive regulation of myeloid cell differentiation64/8552103/187235.54e-043.03e-0364
GO:0045637111EsophagusESCCregulation of myeloid cell differentiation118/8552210/187231.35e-036.43e-03118
GO:001049812LiverCirrhoticproteasomal protein catabolic process216/4634490/187232.52e-219.29e-19216
GO:004217612LiverCirrhoticregulation of protein catabolic process181/4634391/187237.94e-212.77e-18181
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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
PITHD1SNVMissense_Mutationc.547G>Ap.Glu183Lysp.E183KQ9GZP4protein_codingtolerated(0.23)benign(0.034)TCGA-EK-A2PG-01Cervixcervical & endocervical cancerFemale>=65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationc.247N>Gp.Thr83Alap.T83AQ9GZP4protein_codingdeleterious(0.02)probably_damaging(0.93)TCGA-A6-6780-01Colorectumcolon adenocarcinomaMale>=65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationrs763501501c.491C>Tp.Thr164Metp.T164MQ9GZP4protein_codingdeleterious(0.04)possibly_damaging(0.9)TCGA-AA-3977-01Colorectumcolon adenocarcinomaMale>=65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationnovelc.347N>Gp.Phe116Cysp.F116CQ9GZP4protein_codingdeleterious(0)probably_damaging(1)TCGA-AA-3984-01Colorectumcolon adenocarcinomaFemale<65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationnovelc.211G>Tp.Asp71Tyrp.D71YQ9GZP4protein_codingdeleterious(0)probably_damaging(0.994)TCGA-AZ-4315-01Colorectumcolon adenocarcinomaMale<65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationc.253N>Gp.Asn85Aspp.N85DQ9GZP4protein_codingtolerated(0.09)benign(0.081)TCGA-NH-A5IV-01Colorectumcolon adenocarcinomaFemale>=65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationc.454N>Ap.Leu152Ilep.L152IQ9GZP4protein_codingdeleterious(0.03)probably_damaging(1)TCGA-D1-A103-01Endometriumuterine corpus endometrioid carcinomaFemale>=65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationrs757948298c.434N>Ap.Arg145Hisp.R145HQ9GZP4protein_codingdeleterious(0.05)probably_damaging(0.978)TCGA-E6-A1LX-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationc.542N>Ap.Arg181Glnp.R181QQ9GZP4protein_codingtolerated(0.09)benign(0.133)TCGA-EO-A22R-01Endometriumuterine corpus endometrioid carcinomaFemale<65I/IIUnknownUnknownSD
PITHD1SNVMissense_Mutationrs763501501c.491C>Tp.Thr164Metp.T164MQ9GZP4protein_codingdeleterious(0.04)possibly_damaging(0.9)TCGA-FI-A2D0-01Endometriumuterine corpus endometrioid carcinomaFemale<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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