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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: APEH (NCBI Gene ID:327)


Gene Summary

check button Gene Summary
Gene InformationGene Name: APEH
Gene ID: 327
Gene Symbol

APEH

Gene ID

327

Gene Nameacylaminoacyl-peptide hydrolase
SynonymsAARE|ACPH|APH|D3F15S2|D3S48E|DNF15S2|OPH
Cytomap

3p21.31

Type of Geneprotein-coding
Descriptionacylamino-acid-releasing enzymeN-acylaminoacyl-peptide hydrolaseacyl-peptide hydrolaseacylaminoacyl-peptidaseoxidized protein hydrolase
Modification date20200313
UniProtAcc

P13798


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0006415Translational termination
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAPEH

GO:0006508

proteolysis

17241160

HgeneAPEH

GO:0050435

amyloid-beta metabolic process

17241160



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
APEH>1119.25


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Translation Studies in PubMed

check button We searched PubMed using 'APEH[title] AND translation [title] AND human.'
GeneTitlePMID
APEH..


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Exon Skipping Events

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.
all structure

check button Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST000002964564971261549712742Frame-shift
ENST000002964564971348849713652Frame-shift
ENST000002964564971381049713948In-frame
ENST000002964564971420949714250Frame-shift
ENST000002964564971433549714457Frame-shift
ENST000002964564971702549717077Frame-shift
ENST000002964564971853349718672Frame-shift
ENST000002964564971915449719238In-frame
ENST000002964564971931949719400In-frame
ENST000002964564971978049719869Frame-shift

check button Exon skipping position in the amino acid sequence.
ENSTExon skip start (DNA)Exon Skip end (DNA)Len(transcript seq)Exon skip start (mRNA)Exon Skip end (mRNA)Len(amino acid seq)Exon skip start (AA)Exon Skip end (AA)
ENST000002964564971381049713948323710071144732202248
ENST000002964564971915449719238323718391922732479507
ENST000002964564971931949719400323719232003732507534

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.
P137985075341732ChainID=PRO_0000122430;Note=Acylamino-acid-releasing enzyme
P137984795071732ChainID=PRO_0000122430;Note=Acylamino-acid-releasing enzyme
P137982022481732ChainID=PRO_0000122430;Note=Acylamino-acid-releasing enzyme


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution
all structure

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
all structure
Cancer typeTranslation factorFCadj.pval
UCECAPEH-5.034939227529110.046875
PRADAPEH1.475983798969641.90539887114352e-05


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a
THCAAPEH230.03506640550957740.5713200515883790.611999622844828-1.02006185371443-0.915707609127109

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through copy number variation of Translation factor
all structure
Cancer typeGeneCoefficientPvalue
LUSCAPEH-0.1191631450.008462492
OVAPEH-0.0813298810.018751333
BRCAAPEH-0.0585976060.038828639
KIRPAPEH0.0297760280.040040779

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with APEH (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)
all structure
Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue
TGCTCell metabolism geneAPEHPSMA70.8364818844.52E-42
UVMCell metabolism geneAPEHLSM30.8030719853.23E-19
UVMCell metabolism geneAPEHAGPAT10.8085722271.20E-19
UVMCell metabolism geneAPEHTKT0.8188756961.71E-20
UVMCell metabolism geneAPEHGLB10.8275302133.01E-21
UVMCell metabolism geneAPEHRFT10.8298523121.86E-21
UVMCell metabolism geneAPEHHEMK10.8424413121.20E-22
UVMCell metabolism geneAPEHMTMR140.8461853555.04E-23
UVMCell metabolism geneAPEHPLCD10.8586246072.41E-24
UVMCell metabolism geneAPEHPSMD20.8645284215.13E-25
UVMCGCAPEHNCKIPSD0.8876637995.45E-28
UVMEpifactorAPEHFOXP40.8064947571.75E-19
UVMEpifactorAPEHZNF6870.8068773311.63E-19
UVMEpifactorAPEHBRPF10.8243246855.79E-21
UVMEpifactorAPEHTADA30.8397966932.17E-22
UVMEpifactorAPEHRUVBL10.8494804822.31E-23
UVMEpifactorAPEHMAPKAPK30.8943086895.75E-29
UVMIUPHARAPEHIL17RC0.8032303683.14E-19
UVMIUPHARAPEHTUBB0.805545352.08E-19
UVMIUPHARAPEHBRPF10.8243246855.79E-21
UVMIUPHARAPEHPLCD10.8586246072.41E-24
UVMIUPHARAPEHMAPKAPK30.8943086895.75E-29
UVMKinaseAPEHMAPKAPK30.8943086895.75E-29
UVMTFAPEHFOXP40.8064947571.75E-19
UVMTFAPEHZNF6870.8068773311.63E-19
UVMTFAPEHZBTB90.8116849836.73E-20
UVMTSGAPEHPLCD10.8586246072.41E-24
UVMTSGAPEHPTPN230.9075179074.07E-31


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure

check buttonOverlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure
check button
* Edge colors based on TCGA cancer types.

check button* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
LIHCAPEHGLB11.178879965587910.000187105333089196
BLCAAPEHGLB1-6.030688518699890.000644683837890625
ESCAAPEHNAA251.63422583022390.001953125
PRADAPEHNTAN1-2.177633173988580.00261388809045169
LUSCAPEHNTAN1-1.483337379981880.0035021683725064
HNSCAPEHACY11.328089957015990.00389513226355121
BRCAAPEHNAA251.141133494998120.00955478056665173
LUADAPEHNAA20-1.219520691084410.0182052890234661
LUADAPEHNTAN1-3.666314456706990.0307637611834957
ESCAAPEHACY1-2.073549094588710.0322265625
HNSCAPEHNAA251.266579136643240.0422964299507385
KIRPAPEHACY1-1.310917703790351.49570405483246e-06
KICHAPEHACY1-2.474585397544441.50799751281738e-05
THCAAPEHNAA251.532503136743352.25824268567315e-06
LUADAPEHNAA25-5.460440296255634.19177862905507e-09
KIRCAPEHACY1-2.296245180846794.43682360199625e-09
KIRCAPEHNAA25-1.876849943123784.53616147614095e-08
KIRCAPEHWDYHV11.392151849859135.93629817397201e-06
LUADAPEHACY1-1.275997440578417.36788722596242e-05
COADAPEHWDYHV1-2.935260734861097.53998756408692e-06
LIHCAPEHWDYHV1-2.504244656039748.51524921447167e-07
KIRPAPEHNAA25-1.799687515379219.4762071967125e-07


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with APEH
APEH, UBA5, IST1, SHBG, PREPL, CYHR1, DNM1L, H1FX, JMJD6, PAWR, SHMT1, SHMT2, STAT1, TARS, TBCD, TOLLIP, VPS26A, CAND1, CTTN, CARS, GARS, HIST1H1C, HSPA4L, IPO7, KARS, LAMP2, NMI, PPM1G, SERPINE2, SNX6, ZYX, LGALS8, MOV10, NXF1, PFKL, PFKM, CNOT7, USP39, NTRK1, BRCA1, ORF10, HDAC4, NHLRC2, APEX1, ITFG1, GSK3B, TEX101, PRNP, C18orf8, DNAJA2, DNAJC7, TP53, MPRIP, DPP3, TAX1BP1,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
APEHLIHCchr34971442749714427C-Frame_Shift_Delp.I323fs6
APEHLUADchr34972076349720763CGMissense_Mutationp.H729Q5
APEHSTADchr34971931949719319G-Splice_Sitep.G508_splice4
APEHLUSCchr34972004649720046CTMissense_Mutationp.S587F3
APEHLIHCchr34971273649712736G-Frame_Shift_Delp.R89fs3
APEHBLCAchr34971422549714225TCSilent3
APEHKIRPchr34971801949718019TCMissense_Mutationp.L419P3
APEHESCAchr34971360849713608GAMissense_Mutationp.D188N3
APEHKIRPchr34972068949720689AGMissense_Mutationp.S705G3
APEHESCAchr34971702949717029CGMissense_Mutationp.L388V3
APEHESCAchr34971411549714115GTMissense_Mutation3
APEHPAADchr34971406049714060GAMissense_Mutationp.D255N3
APEHCOADchr34971931949719319G-Splice_Site.3
APEHSKCMchr34971321449713214CTSilentp.F120F2
APEHSTADchr34971359549713595CTSilentp.D183D2
APEHUCECchr34971920949719209CTMissense_Mutationp.T498I2
APEHSKCMchr34971435449714354CTMissense_Mutationp.S299F2
APEHCESCchr34971922149719221TAMissense_Mutation2
APEHUCECchr34972013549720135GAMissense_Mutationp.A617T2
APEHSKCMchr34971437149714371CTMissense_Mutationp.P305S2
APEHLIHCchr34972003749720037TCMissense_Mutation2
APEHUVMchr34971636549716365GAMissense_Mutationp.A381T2
APEHSKCMchr34972029849720298CTMissense_Mutationp.P636S2
APEHLIHCchr34971356149713561AGMissense_Mutation2
APEHSKCMchr34971410149714101CTSilentp.F268F2
APEHLIHCchr34971919549719195CTSilent2
APEHSKCMchr34971860549718605CTSilentp.P457P2
APEHBLCAchr34971361149713611GAMissense_Mutationp.D189N2
APEHLIHCchr34972048549720485CTSilent2
APEHESCAchr34971411549714115GTMissense_Mutationp.R273L2
APEHBLCAchr34971865149718651GCMissense_Mutationp.E473Q2
APEHBLCAchr34971634649716346GASilentp.Q374Q2
APEHLIHCchr34972048549720485CTSilentp.L667L2
APEHPAADchr34971406049714060GAMissense_Mutation2
APEHSARCchr34971799049717990CAMissense_Mutation2
APEHLIHCchr34971919549719195CTSilentp.S493S2
APEHSARCchr34971799049717990CAMissense_Mutationp.S409R2
APEHESCAchr34971702949717029CGMissense_Mutation2
APEHUCECchr34971444849714448GASilentp.Q3302
APEHSARCchr34971411549714115GAMissense_Mutationp.R273H2
APEHESCAchr34971360849713608GAMissense_Mutation2
APEHLUADchr34972035749720357GASilentp.S655S2
APEHSTADchr34971916149719161TCMissense_Mutationp.L482P2
APEHLIHCchr34972003749720037TCMissense_Mutationp.M584T2
APEHUCECchr34971628649716286GTMissense_Mutationp.E354D2
APEHBLCAchr34971634649716346GASilent1
APEHHNSCchr34971630349716303ATMissense_Mutation1
APEHBLCAchr34971334749713347CGSilentp.L130L1
APEHLGGchr34972067149720671CASplice_Sitep.L699_splice1
APEHCOADchr34971933649719336CASilentp.S513S1
APEHLIHCchr34971356949713569TCMissense_Mutationp.S175P1
APEHPRADchr34972051649720516GAMissense_Mutationp.R677H1
APEHBLCAchr34971630149716301CTSilent1
APEHHNSCchr34971932549719325C-Frame_Shift_Del1
APEHLGGchr34971266649712666CTNonsense_Mutation1
APEHLUSCchr34971363149713631GASilentp.K195K1
APEHSTADchr34971979849719798AGMissense_Mutationp.T541A1
APEHCOADchr34972027949720279CTSilentp.C629C1
APEHPRADchr34971435549714355CASilentp.S299S1
APEHBLCAchr34972013949720139CTMissense_Mutation1
APEHHNSCchr34971630349716303ATMissense_Mutationp.Y360F1
APEHCOADchr34971268649712686CTSilentp.D72D1
APEHMESOchr34971390649713906CASilent1
APEHSTADchr34971637849716378GAMissense_Mutationp.R385Q1
APEHDLBCchr34971854249718542GASilentp.G436G1
APEHLIHCchr34971383949713839G-Frame_Shift_Delp.W212fs1
APEHREADchr34972001149720011CTSilentp.H575H1
APEHBLCAchr34972014049720140CTSilent1
APEHHNSCchr34971932549719325C-Frame_Shift_Delp.P510fs1
APEHCOADchr34971336849713368GASilentp.A137A1
APEHMESOchr34972028849720288GTMissense_Mutation1
APEHESCAchr34971349349713493C-Frame_Shift_Delp.F150fs1
APEHLIHCchr34971391849713918G-Frame_Shift_Delp.E238fs1
APEHREADchr34972001949720019CTMissense_Mutationp.A578V1
APEHCOADchr34971356649713566GAMissense_Mutationp.E174K1
APEHMESOchr34972028849720288GTMissense_Mutationp.E632D1
APEHTHYMchr34971854949718549CTMissense_Mutation1
APEHREADchr34972010749720107CTSilentp.C607C1
APEHLIHCchr34971337549713375A-Frame_Shift_Delp.K140fs1
APEHCOADchr34971412749714127AGMissense_Mutationp.N277S1
APEHOVchr34968767549687675CANonsense_Mutation1
APEHTHYMchr34971351149713511GTMissense_Mutationp.W155C1
APEHSARCchr34972050149720501GTMissense_Mutation1
APEHLIHCchr34971931949719319G-Splice_Site1
APEHLIHCchr34971268049712680C-Frame_Shift_Delp.F70fs1
APEHSKCMchr34971268049712680CTSilentp.F70F1
APEHKIRPchr34972068949720689AGMissense_Mutationp.S710G1
APEHCOADchr34971439549714395CTMissense_Mutationp.R313C1
APEHLIHCchr34971271049712710AGSilentp.G80G1
APEHOVchr34968859849688598ATMissense_Mutationp.D183V1
APEHUCECchr34971356349713563GTMissense_Mutationp.A173S1
APEHSARCchr34971798349717983GTMissense_Mutation1
APEHLIHCchr34971405249714052C-Frame_Shift_Delp.A252fs1
APEHSKCMchr34971411449714114CTMissense_Mutationp.R273C1
APEHKIRPchr34972068949720689AGMissense_Mutation1
APEHCOADchr34971629249716292CAMissense_Mutationp.F356L1
APEHUCECchr34971333949713339CTMissense_Mutationp.R128W1
APEHLIHCchr34972068649720686A-Frame_Shift_Delp.K704fs1
APEHSKCMchr34971333249713332GASilentp.E125E1
APEHBLCAchr34971630149716301CTSilentp.I359I1
APEHKIRPchr34971264449712644GTMissense_Mutation1
APEHCOADchr34971860249718602GASilentp.E456E1
APEHUCECchr34972056449720564GAMissense_Mutationp.R698Q1
APEHBLCAchr34971865149718651GCMissense_Mutation1
APEHSKCMchr34972053849720538GAMissense_Mutationp.M684I1
APEHBLCAchr34972013949720139CTMissense_Mutationp.S618F1
APEHKIRPchr34971982849719828CAMissense_Mutation1
APEHPAADchr34971983549719835GAMissense_Mutationp.G553D1
APEHBLCAchr34972004849720048CAMissense_Mutation1
APEHBLCAchr34972014049720140CTSilentp.S618S1
APEHKIRPchr34971801949718019TCMissense_Mutation1
APEHCOADchr34971932549719325C-Frame_Shift_Delp.G509fs1
APEHPCPGchr34971704249717042AGMissense_Mutationp.D392G1

check buttonCopy number variation (CNV) of APEH
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across APEH
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5394N/ABF988871ADIPOR1chr1202920149-APEHchr349712711+
5399N/AAA639921APEHchr349720829+APEHchr349720560-
90604N/ADN913074APEHchr349710552+BCLAF1chr6136579727+
95177N/ABF344645APEHchr349720936+CXADRchr2118925951-
51984N/AEC583020APEHchr349719160-KIF5Cchr2149813279-
101837STADTCGA-BR-A4PD-01AAPEHchr349719208+TFF1chr2143782596-
96778..APEHchr349695936+TRAK1chr342208096+
96778N/AJ03068APEHchr349720932+TRAK1chr342233093+


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
all structure
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
HNSCAPEH0.00629556571782320.17
LIHCAPEH5.05400807332226e-071.4e-05

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
TGCTAPEH0.01190947043976560.35
LIHCAPEH0.003824428476599870.11
LUADAPEH0.0482956014406431
THCAAPEH0.0001583369479531370.0052
KIRCAPEH0.02428901037697050.63
KIRPAPEH0.0001595517445818640.0052
BRCAAPEH0.0003317199033923420.01
UCSAPEH0.01938029093854480.52
ESCAAPEH0.01711629701185070.48

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source