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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for LGMN

check button Gene summary
Gene informationGene symbol

LGMN

Gene ID

5641

Gene namelegumain
SynonymsAEP|LGMN1|PRSC1
Cytomap

14q32.12

Type of geneprotein-coding
Descriptionlegumainasparaginyl endopeptidasecysteine protease 1protease, cysteine 1protease, cysteine, 1 (legumain)
Modification date20200313
UniProtAcc

G3V263,

G3V2E9,

G3V2T4,

G3V3Z4,

G3V4E4,

G3V4P5,

G3V5B2,

H0YJN9,

Q53XC6,

Q6I9U9,

Q99538,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
LGMN

GO:0010447

response to acidic pH

18374643

LGMN

GO:0035729

cellular response to hepatocyte growth factor stimulus

21237226

LGMN

GO:0071277

cellular response to calcium ion

21237226

LGMN

GO:0090026

positive regulation of monocyte chemotaxis

18377911

LGMN

GO:0097202

activation of cysteine-type endopeptidase activity

9821970|18374643

LGMN

GO:0097264

self proteolysis

9821970|18374643

LGMN

GO:1904646

cellular response to amyloid-beta

25326800

LGMN

GO:2001028

positive regulation of endothelial cell chemotaxis

18377911


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Gene structures and expression levels for LGMN

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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.
all structure

ENSG00000100600
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000555169.1LGMN-210:protein_coding:LGMN5.875788e+01-1.711862e+001.975997e-073.779175e-06
TCDOWNENST00000555169.1LGMN-210:protein_coding:LGMN1.101680e+02-8.129178e-014.812663e-045.582819e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LGMN

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_111809chr1492732728:92732815:92741062:92741179:92748489:9274851292741062:92741179
exon_skip_11571chr1492704276:92704361:92704640:92704707:92709672:9270975092704640:92704707
exon_skip_124907chr1492704293:92704361:92704640:92704707:92706483:9270665392704640:92704707
exon_skip_128257chr1492732649:92732815:92741718:92741859:92748489:9274857092741718:92741859
exon_skip_132396chr1492704276:92704361:92704640:92704707:92709672:9270974192704640:92704707
exon_skip_135218chr1492732728:92732815:92741062:92741179:92748489:9274857092741062:92741179
exon_skip_143480chr1492704640:92704707:92706483:92706653:92709672:9270975092706483:92706653
exon_skip_143675chr1492732649:92732815:92741705:92741859:92748489:9274851892741705:92741859
exon_skip_157867chr1492732649:92732815:92741705:92741859:92748489:9274862792741705:92741859
exon_skip_161784chr1492732649:92732815:92741705:92741859:92748489:9274857092741705:92741859
exon_skip_184609chr1492732728:92732815:92733682:92733810:92748489:9274862792733682:92733810
exon_skip_18765chr1492714424:92714451:92716136:92716221:92717380:9271744792716136:92716221
exon_skip_204600chr1492704296:92704361:92704640:92704707:92706483:9270665392704640:92704707
exon_skip_214027chr1492704640:92704707:92706483:92706653:92709672:9270987292706483:92706653
exon_skip_214159chr1492717380:92717461:92718774:92718844:92732649:9273281592718774:92718844
exon_skip_215691chr1492732649:92732815:92741718:92741859:92748489:9274851892741718:92741859
exon_skip_219969chr1492704276:92704361:92704640:92704707:92709672:9270987292704640:92704707
exon_skip_241147chr1492732649:92732815:92741718:92741859:92748489:9274862792741718:92741859
exon_skip_241278chr1492717380:92717461:92718747:92718844:92732649:9273281592718747:92718844
exon_skip_278480chr1492704276:92704361:92704640:92704707:92706483:9270665392704640:92704707
exon_skip_281601chr1492732649:92732815:92741718:92741859:92748489:9274851292741718:92741859
exon_skip_28391chr1492732728:92732815:92741062:92741179:92748489:9274851892741062:92741179
exon_skip_42673chr1492714376:92714451:92716136:92716221:92717380:9271746192716136:92716221
exon_skip_439chr1492732649:92732815:92741062:92741179:92748489:9274862792741062:92741179
exon_skip_60524chr1492704640:92704707:92706483:92706653:92709672:9270974192706483:92706653
exon_skip_71646chr1492732649:92732815:92733682:92733810:92748489:9274862792733682:92733810
exon_skip_86749chr1492711837:92711955:92712805:92712871:92713823:9271388592712805:92712871
exon_skip_99346chr1492713852:92713885:92714376:92714451:92716136:9271622192714376:92714451

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_241278Mayo_CB8.030000e-019.205882e-01-1.175882e-011.320117e-06


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Open reading frame (ORF) annotation in the exon skipping event for LGMN

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000039321892741062927411793UTR-3UTR
ENST000003348699270464092704707Frame-shift
ENST000003932189270464092704707Frame-shift
ENST000003348699271280592712871Frame-shift
ENST000003932189271280592712871Frame-shift
ENST000003348699271437692714451Frame-shift
ENST000003932189271437692714451Frame-shift
ENST000003348699271613692716221Frame-shift
ENST000003932189271613692716221Frame-shift
ENST000003348699271874792718844Frame-shift
ENST000003932189271874792718844Frame-shift
ENST000003348699270648392706653In-frame
ENST000003932189270648392706653In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000039321892741062927411793UTR-3UTR
ENST000003348699270464092704707Frame-shift
ENST000003932189270464092704707Frame-shift
ENST000003348699271874792718844Frame-shift
ENST000003932189271874792718844Frame-shift
ENST000003348699270648392706653In-frame
ENST000003932189270648392706653In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000039321892741062927411793UTR-3UTR
ENST000003348699270464092704707Frame-shift
ENST000003932189270464092704707Frame-shift
ENST000003348699271280592712871Frame-shift
ENST000003932189271280592712871Frame-shift
ENST000003348699271613692716221Frame-shift
ENST000003932189271613692716221Frame-shift
ENST000003348699271874792718844Frame-shift
ENST000003932189271874792718844Frame-shift
ENST000003348699270648392706653In-frame
ENST000003932189270648392706653In-frame

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Infer the effects of exon skipping event on protein functional features for LGMN

p-ENSG00000100600_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003348692072433927064839270665312641433340396
ENST000003932182132433927064839270665313591528340396

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003348692072433927064839270665312641433340396
ENST000003932182132433927064839270665313591528340396

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003348692072433927064839270665312641433340396
ENST000003932182132433927064839270665313591528340396

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396324433PropeptideID=PRO_0000026503
Q99538340396324433PropeptideID=PRO_0000026503

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396324433PropeptideID=PRO_0000026503
Q99538340396324433PropeptideID=PRO_0000026503

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340396324433PropeptideID=PRO_0000026503
Q99538340396324433PropeptideID=PRO_0000026503


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3'-UTR located exon skipping events that lost miRNA binding sites in LGMN

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000003932189274106292741179hsa-miR-1976chr14:92741091-927410988mer-1achr14:92741078-92741098149.00-24.39
MayoENST000003932189274106292741179hsa-miR-6747-3pchr14:92741089-927410968mer-1achr14:92741078-92741098149.00-24.39
MayoENST000003932189274106292741179hsa-miR-3664-5pchr14:92741167-927411748mer-1achr14:92741154-92741179157.00-24.80
MayoENST000003932189274106292741179hsa-miR-6778-3pchr14:92741112-927411198mer-1achr14:92741108-92741130162.00-21.71
MayoENST000003932189274106292741179hsa-miR-367-5pchr14:92741164-927411718mer-1achr14:92741154-92741179157.00-24.80
MayoENST000003932189274106292741179hsa-miR-550b-3pchr14:92741170-927411778mer-1achr14:92741154-92741179157.00-24.80
MayoENST000003932189274106292741179hsa-miR-4284chr14:92741129-927411368mer-1achr14:92741127-92741149156.00-19.33
MayoENST000003932189274106292741179hsa-miR-504-3pchr14:92741150-927411578mer-1achr14:92741136-92741157166.00-30.16
MSBBENST000003932189274106292741179hsa-miR-1976chr14:92741091-927410988mer-1achr14:92741078-92741098149.00-24.39
MSBBENST000003932189274106292741179hsa-miR-6747-3pchr14:92741089-927410968mer-1achr14:92741078-92741098149.00-24.39
MSBBENST000003932189274106292741179hsa-miR-3664-5pchr14:92741167-927411748mer-1achr14:92741154-92741179157.00-24.80
MSBBENST000003932189274106292741179hsa-miR-6778-3pchr14:92741112-927411198mer-1achr14:92741108-92741130162.00-21.71
MSBBENST000003932189274106292741179hsa-miR-367-5pchr14:92741164-927411718mer-1achr14:92741154-92741179157.00-24.80
MSBBENST000003932189274106292741179hsa-miR-550b-3pchr14:92741170-927411778mer-1achr14:92741154-92741179157.00-24.80
MSBBENST000003932189274106292741179hsa-miR-4284chr14:92741129-927411368mer-1achr14:92741127-92741149156.00-19.33
MSBBENST000003932189274106292741179hsa-miR-504-3pchr14:92741150-927411578mer-1achr14:92741136-92741157166.00-30.16
ROSMAPENST000003932189274106292741179hsa-miR-1976chr14:92741091-927410988mer-1achr14:92741078-92741098149.00-24.39
ROSMAPENST000003932189274106292741179hsa-miR-6747-3pchr14:92741089-927410968mer-1achr14:92741078-92741098149.00-24.39
ROSMAPENST000003932189274106292741179hsa-miR-3664-5pchr14:92741167-927411748mer-1achr14:92741154-92741179157.00-24.80
ROSMAPENST000003932189274106292741179hsa-miR-6778-3pchr14:92741112-927411198mer-1achr14:92741108-92741130162.00-21.71
ROSMAPENST000003932189274106292741179hsa-miR-367-5pchr14:92741164-927411718mer-1achr14:92741154-92741179157.00-24.80
ROSMAPENST000003932189274106292741179hsa-miR-550b-3pchr14:92741170-927411778mer-1achr14:92741154-92741179157.00-24.80
ROSMAPENST000003932189274106292741179hsa-miR-4284chr14:92741129-927411368mer-1achr14:92741127-92741149156.00-19.33
ROSMAPENST000003932189274106292741179hsa-miR-504-3pchr14:92741150-927411578mer-1achr14:92741136-92741157166.00-30.16

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SNVs in the skipped exons for LGMN

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for LGMN

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LGMN

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
TCexon_skip_132396rs3783933chr14:927110553.652477e-044.588459e-02
HCCexon_skip_278480rs1242118chr14:927202731.658790e-041.393904e-02
HCCexon_skip_278480rs4904977chr14:927052082.187130e-041.745943e-02
HCCexon_skip_278480rs1242119chr14:927161215.448465e-043.629437e-02
HCCexon_skip_278480rs9791chr14:927046485.977946e-043.899708e-02
HCCexon_skip_278480rs716097chr14:927121227.984504e-044.900875e-02

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Correlation with RNA binding proteins (RBPs) for LGMN

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBPCBP4exon_skip_1674114.207772e-013.385801e-07
CBRBM4exon_skip_167411-6.374614e-017.157668e-17
CBRBM4Bexon_skip_167411-4.452570e-015.589304e-08
CBRBM4exon_skip_214027-6.245019e-012.340078e-18
CBRBM4Bexon_skip_214027-4.615828e-011.168617e-09
CBTARDBPexon_skip_63107-4.270754e-015.031713e-08
CBU2AF2exon_skip_63107-5.288196e-013.498004e-12
CBCNOT4exon_skip_63107-4.431814e-011.351824e-08
CBTRA2Aexon_skip_63107-4.426852e-011.409134e-08
CBTRA2Aexon_skip_241278-5.737780e-012.481867e-14
CBNUP42exon_skip_2412785.104988e-013.395269e-11
CBRBM4exon_skip_241278-7.844413e-014.291404e-32
CBRBM4Bexon_skip_241278-5.555992e-012.312120e-13
IFGTARDBPexon_skip_2784804.904353e-019.399817e-03
IFGSAMD4Aexon_skip_2784804.532246e-011.758817e-02
IFGRBM3exon_skip_278480-4.751283e-011.226253e-02
IFGILF2exon_skip_2140274.287900e-012.563564e-02
TCRBM4exon_skip_276183-4.827785e-013.935296e-10
TCRBM4Bexon_skip_276183-4.473026e-019.550746e-09

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RelatedDrugs for LGMN

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LGMN

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource