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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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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 date20180525
UniProtAcc

Q99538

ContextPubMed: LGMN [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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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Exon skipping events across known transcript of Ensembl for LGMN from UCSC genome browser

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.
all structure

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Gene isoform structures and expression levels for LGMN

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for LGMN

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557609.1
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENSG00000100600.10ENST00000557434.1
exon_skip_1153021493170620:93170706:93176016:93176217:93178003:9317809393176016:93176217ENSG00000100600.10ENST00000555699.1
exon_skip_1153051493170984:93171052:93172827:93172998:93176016:9317608693172827:93172998ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557609.1
exon_skip_1153091493172827:93172998:93176016:93176217:93178003:9317809393176016:93176217ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557725.1,ENST00000557609.1
exon_skip_1153111493178181:93178300:93179067:93179216:93180167:9318023093179067:93179216ENSG00000100600.10ENST00000556097.1
exon_skip_1153131493178181:93178300:93179149:93179216:93180167:9318023093179149:93179216ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000555699.1,ENST00000557609.1,ENST00000557434.1
exon_skip_1153181493179149:93179216:93180167:93180230:93180720:9318079693180167:93180230ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000556097.1,ENST00000555699.1,ENST00000557609.1,ENST00000557434.1
exon_skip_1153211493180196:93180230:93180720:93180796:93182480:9318256693180720:93180796ENSG00000100600.10ENST00000554189.1,ENST00000334869.4,ENST00000393218.2,ENST00000556097.1,ENST00000555699.1,ENST00000557434.1
exon_skip_1153241493180768:93180796:93182480:93182566:93183724:9318379293182480:93182566ENSG00000100600.10ENST00000554189.1,ENST00000334869.4,ENST00000393218.2,ENST00000553802.1,ENST00000556097.1,ENST00000555699.1,ENST00000557434.1
exon_skip_1153251493180768:93180796:93183724:93183806:93185091:9318518993183724:93183806ENSG00000100600.10ENST00000557609.1
exon_skip_1153271493183724:93183806:93185091:93185189:93198993:9319916093185091:93185189ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557694.1,ENST00000556097.1,ENST00000555699.1,ENST00000557609.1,ENST00000557434.1
exon_skip_1153281493183724:93183806:93185118:93185189:93198993:9319916093185118:93185189ENSG00000100600.10ENST00000553802.1
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENSG00000100600.10ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1
exon_skip_1153311493199072:93199160:93200026:93200155:93207406:9320752493200026:93200155ENSG00000100600.10ENST00000554080.1
exon_skip_1153321493199072:93199160:93200026:93200155:93214833:9321491593200026:93200155ENSG00000100600.10ENST00000554397.1
exon_skip_1153361493199072:93199160:93207406:93207524:93214833:9321491593207406:93207524ENSG00000100600.10ENST00000393218.2
exon_skip_1153371493199072:93199160:93208049:93208204:93214833:9321491593208049:93208204ENSG00000100600.10ENST00000553371.1
exon_skip_1153381493199072:93199160:93208062:93208204:93214833:9321491593208062:93208204ENSG00000100600.10ENST00000554919.1
exon_skip_1153401493199072:93199160:93209253:93209366:93214833:9321491593209253:93209366ENSG00000100600.10ENST00000553918.1
exon_skip_1153411493200026:93200155:93207406:93207524:93214833:9321491593207406:93207524ENSG00000100600.10ENST00000554080.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for LGMN

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557609.1
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENSG00000100600.10ENST00000557434.1
exon_skip_1153021493170620:93170706:93176016:93176217:93178003:9317809393176016:93176217ENSG00000100600.10ENST00000555699.1
exon_skip_1153051493170984:93171052:93172827:93172998:93176016:9317608693172827:93172998ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557609.1
exon_skip_1153091493172827:93172998:93176016:93176217:93178003:9317809393176016:93176217ENSG00000100600.10ENST00000334869.4,ENST00000393218.2,ENST00000557609.1,ENST00000557725.1
exon_skip_1153111493178181:93178300:93179067:93179216:93180167:9318023093179067:93179216ENSG00000100600.10ENST00000556097.1
exon_skip_1153131493178181:93178300:93179149:93179216:93180167:9318023093179149:93179216ENSG00000100600.10ENST00000555699.1,ENST00000334869.4,ENST00000557434.1,ENST00000393218.2,ENST00000557609.1
exon_skip_1153181493179149:93179216:93180167:93180230:93180720:9318079693180167:93180230ENSG00000100600.10ENST00000555699.1,ENST00000334869.4,ENST00000557434.1,ENST00000393218.2,ENST00000557609.1,ENST00000556097.1
exon_skip_1153211493180196:93180230:93180720:93180796:93182480:9318256693180720:93180796ENSG00000100600.10ENST00000555699.1,ENST00000334869.4,ENST00000557434.1,ENST00000393218.2,ENST00000556097.1,ENST00000554189.1
exon_skip_1153241493180768:93180796:93182480:93182566:93183724:9318379293182480:93182566ENSG00000100600.10ENST00000555699.1,ENST00000334869.4,ENST00000557434.1,ENST00000393218.2,ENST00000556097.1,ENST00000554189.1,ENST00000553802.1
exon_skip_1153251493180768:93180796:93183724:93183806:93185091:9318518993183724:93183806ENSG00000100600.10ENST00000557609.1
exon_skip_1153271493183724:93183806:93185091:93185189:93198993:9319916093185091:93185189ENSG00000100600.10ENST00000555699.1,ENST00000334869.4,ENST00000557434.1,ENST00000393218.2,ENST00000557609.1,ENST00000556097.1,ENST00000557694.1
exon_skip_1153281493183724:93183806:93185118:93185189:93198993:9319916093185118:93185189ENSG00000100600.10ENST00000553802.1
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENSG00000100600.10ENST00000334869.4,ENST00000557434.1,ENST00000557609.1,ENST00000556097.1,ENST00000553802.1,ENST00000557694.1
exon_skip_1153311493199072:93199160:93200026:93200155:93207406:9320752493200026:93200155ENSG00000100600.10ENST00000554080.1
exon_skip_1153321493199072:93199160:93200026:93200155:93214833:9321491593200026:93200155ENSG00000100600.10ENST00000554397.1
exon_skip_1153361493199072:93199160:93207406:93207524:93214833:9321491593207406:93207524ENSG00000100600.10ENST00000393218.2
exon_skip_1153371493199072:93199160:93208049:93208204:93214833:9321491593208049:93208204ENSG00000100600.10ENST00000553371.1
exon_skip_1153381493199072:93199160:93208062:93208204:93214833:9321491593208062:93208204ENSG00000100600.10ENST00000554919.1
exon_skip_1153401493199072:93199160:93209253:93209366:93214833:9321491593209253:93209366ENSG00000100600.10ENST00000553918.1
exon_skip_1153411493200026:93200155:93207406:93207524:93214833:9321491593207406:93207524ENSG00000100600.10ENST00000554080.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000033486993198993931991603UTR-3CDS
ENST0000039321893207406932075243UTR-3UTR
ENST000003348699317098493171052Frame-shift
ENST000003932189317098493171052Frame-shift
ENST000003348699317914993179216Frame-shift
ENST000003932189317914993179216Frame-shift
ENST000003348699318072093180796Frame-shift
ENST000003932189318072093180796Frame-shift
ENST000003348699318248093182566Frame-shift
ENST000003932189318248093182566Frame-shift
ENST000003348699318509193185189Frame-shift
ENST000003932189318509193185189Frame-shift
ENST000003348699317282793172998In-frame
ENST000003932189317282793172998In-frame
ENST000003348699317601693176217In-frame
ENST000003932189317601693176217In-frame
ENST000003348699318016793180230In-frame
ENST000003932189318016793180230In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000033486993198993931991603UTR-3CDS
ENST0000039321893207406932075243UTR-3UTR
ENST000003348699317098493171052Frame-shift
ENST000003932189317098493171052Frame-shift
ENST000003348699317914993179216Frame-shift
ENST000003932189317914993179216Frame-shift
ENST000003348699318072093180796Frame-shift
ENST000003932189318072093180796Frame-shift
ENST000003348699318248093182566Frame-shift
ENST000003932189318248093182566Frame-shift
ENST000003348699318509193185189Frame-shift
ENST000003932189318509193185189Frame-shift
ENST000003348699317282793172998In-frame
ENST000003932189317282793172998In-frame
ENST000003348699317601693176217In-frame
ENST000003932189317601693176217In-frame
ENST000003348699318016793180230In-frame
ENST000003932189318016793180230In-frame

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000033486920724339318016793180230724786160181
ENST0000039321821324339318016793180230819881160181
ENST000003348692072433931760169317621710631263273340
ENST000003932182132433931760169317621711581358273340
ENST000003348692072433931728279317299812641434340397
ENST000003932182132433931728279317299813591529340397

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000033486920724339318016793180230724786160181
ENST0000039321821324339318016793180230819881160181
ENST000003348692072433931760169317621710631263273340
ENST000003932182132433931760169317621711581358273340
ENST000003348692072433931728279317299812641434340397
ENST000003932182132433931728279317299813591529340397

check button Lost protein functional features of individual exon skipping events in TCGA.
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
Q99538160181157162Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181157162Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181180186Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181180186Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q9953816018118323ChainID=PRO_0000026502;Note=Legumain
Q9953816018118323ChainID=PRO_0000026502;Note=Legumain
Q99538160181167167GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:23776206;Dbxref=PMID:19159218,PMID:23776206
Q99538160181167167GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:23776206;Dbxref=PMID:19159218,PMID:23776206
Q99538160181163175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181163175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q9953827334018323ChainID=PRO_0000026502;Note=Legumain
Q9953827334018323ChainID=PRO_0000026502;Note=Legumain
Q99538273340273277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340273277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340281284HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340281284HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340323323MutagenesisNote=Loss of autoactivation. N->D%2CQ%2CS
Q99538273340323323MutagenesisNote=Loss of autoactivation. N->D%2CQ%2CS
Q99538273340324433PropeptideID=PRO_0000026503
Q99538273340324433PropeptideID=PRO_0000026503
Q99538273340323324SiteNote=Cleavage%3B by autolysis
Q99538273340323324SiteNote=Cleavage%3B by autolysis
Q99538340397341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397324433PropeptideID=PRO_0000026503
Q99538340397324433PropeptideID=PRO_0000026503


check button Lost protein functional features of individual exon skipping events in GTEx.
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
Q99538160181157162Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181157162Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181180186Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181180186Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q9953816018118323ChainID=PRO_0000026502;Note=Legumain
Q9953816018118323ChainID=PRO_0000026502;Note=Legumain
Q99538160181167167GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:23776206;Dbxref=PMID:19159218,PMID:23776206
Q99538160181167167GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:23776206;Dbxref=PMID:19159218,PMID:23776206
Q99538160181163175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538160181163175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q9953827334018323ChainID=PRO_0000026502;Note=Legumain
Q9953827334018323ChainID=PRO_0000026502;Note=Legumain
Q99538273340273277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340273277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340281284HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340281284HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N6O
Q99538273340323323MutagenesisNote=Loss of autoactivation. N->D%2CQ%2CS
Q99538273340323323MutagenesisNote=Loss of autoactivation. N->D%2CQ%2CS
Q99538273340324433PropeptideID=PRO_0000026503
Q99538273340324433PropeptideID=PRO_0000026503
Q99538273340323324SiteNote=Cleavage%3B by autolysis
Q99538273340323324SiteNote=Cleavage%3B by autolysis
Q99538340397341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341397Alternative sequenceID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397341372Alternative sequenceID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397373433Alternative sequenceID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q99538340397378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397378412Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397390429Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q99538340397324433PropeptideID=PRO_0000026503
Q99538340397324433PropeptideID=PRO_0000026503


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SNVs in the skipped exons for LGMN

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-BR-7707-01exon_skip_115295
exon_skip_115294
93170985931710529317098793170987Frame_Shift_DelG-p.R420fs
LIHCTCGA-G3-A3CJ-01exon_skip_115295
exon_skip_115294
93170985931710529317101093171010Frame_Shift_DelA-p.C412fs
STADTCGA-B7-A5TI-01exon_skip_115302
exon_skip_115309
93176017931762179317615093176151Frame_Shift_Ins-Gp.T296fs
COADTCGA-A6-2676-01exon_skip_115318
93180168931802309318017393180173Nonsense_MutationGAp.R180X
LUADTCGA-55-A48X-01exon_skip_115327
93185092931851899318513893185138Nonsense_MutationCAp.E64*
LUADTCGA-55-A48X-01exon_skip_115328
93185119931851899318513893185138Nonsense_MutationCAp.E64*
UCECTCGA-AP-A059-01exon_skip_115311
93179068931792169317921793179217Splice_SiteCAe7-1
UCECTCGA-AP-A059-01exon_skip_115313
93179150931792169317921793179217Splice_SiteCAe7-1
UCECTCGA-B5-A11E-01exon_skip_115311
93179068931792169317921793179217Splice_SiteCAe7-1
UCECTCGA-B5-A11E-01exon_skip_115313
93179150931792169317921793179217Splice_SiteCAe7-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LGMN_93178181_93178300_93179067_93179216_93180167_93180230_TCGA-AP-A059-01Sample: TCGA-AP-A059-01
Cancer type: UCEC
ESID: exon_skip_115311
Skipped exon start: 93179068
Skipped exon end: 93179216
Mutation start: 93179217
Mutation end: 93179217
Mutation type: Splice_Site
Reference seq: C
Mutation seq: A
AAchange: e7-1
LGMN_93178181_93178300_93179067_93179216_93180167_93180230_TCGA-AP-A059-01Sample: TCGA-AP-A059-01
Cancer type: UCEC
ESID: exon_skip_115313
Skipped exon start: 93179150
Skipped exon end: 93179216
Mutation start: 93179217
Mutation end: 93179217
Mutation type: Splice_Site
Reference seq: C
Mutation seq: A
AAchange: e7-1
exon_skip_109805_UCEC_TCGA-AP-A059-01.png
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exon_skip_115311_UCEC_TCGA-AP-A059-01.png
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exon_skip_24581_UCEC_TCGA-AP-A059-01.png
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exon_skip_24582_UCEC_TCGA-AP-A059-01.png
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exon_skip_24584_UCEC_TCGA-AP-A059-01.png
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exon_skip_288059_UCEC_TCGA-AP-A059-01.png
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exon_skip_304943_UCEC_TCGA-AP-A059-01.png
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exon_skip_390430_UCEC_TCGA-AP-A059-01.png
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exon_skip_477308_UCEC_TCGA-AP-A059-01.png
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exon_skip_479028_UCEC_TCGA-AP-A059-01.png
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exon_skip_484819_UCEC_TCGA-AP-A059-01.png
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exon_skip_497317_UCEC_TCGA-AP-A059-01.png
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exon_skip_499703_UCEC_TCGA-AP-A059-01.png
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exon_skip_512666_UCEC_TCGA-AP-A059-01.png
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exon_skip_5195_UCEC_TCGA-AP-A059-01.png
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exon_skip_57355_UCEC_TCGA-AP-A059-01.png
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exon_skip_5754_UCEC_TCGA-AP-A059-01.png
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exon_skip_71021_UCEC_TCGA-AP-A059-01.png
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exon_skip_89692_UCEC_TCGA-AP-A059-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93172828931729989317289393172893Frame_Shift_DelG-p.H376fs
SISO_CERVIX93176017931762179317611993176119Frame_Shift_DelG-p.P306fs
SNU1197_LARGE_INTESTINE93170985931710529317100093171000Missense_MutationGAp.P415L
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93172828931729989317286193172861Missense_MutationGCp.F386L
HS934T_FIBROBLAST93172828931729989317294693172946Missense_MutationGAp.A358V
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93172828931729989317296293172962Missense_MutationCTp.V353I
NCIH1963_LUNG93172828931729989317299093172990Missense_MutationGTp.H343Q
HEC251_ENDOMETRIUM93180168931802309318017593180175Missense_MutationTCp.Y179C
JAR_PLACENTA93180721931807969318072893180728Missense_MutationTCp.N158S
MIAPACA2_PANCREAS93180721931807969318076893180768Missense_MutationACp.F145V
SW948_LARGE_INTESTINE93182481931825669318255493182554Missense_MutationGTp.Q111K
HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93183725931838069318374493183744Missense_MutationGAp.P100L
KNS60_CENTRAL_NERVOUS_SYSTEM93183725931838069318377193183771Missense_MutationTCp.N91S
NCIH1688_LUNG93185092931851899318512693185126Missense_MutationCAp.V68L
NCIH1688_LUNG93185119931851899318512693185126Missense_MutationCAp.V68L
SNU81_LARGE_INTESTINE93185092931851899318513893185138Missense_MutationCTp.E64K
SNU81_LARGE_INTESTINE93185119931851899318513893185138Missense_MutationCTp.E64K
SNU1040_LARGE_INTESTINE93185092931851899318518393185183Missense_MutationCTp.A49T
SNU1040_LARGE_INTESTINE93185119931851899318518393185183Missense_MutationCTp.A49T
SNU175_LARGE_INTESTINE93198994931991609319911693199116Missense_MutationCTp.A6T
CAL29_URINARY_TRACT93198994931991609319911993199119Missense_MutationCTp.V5I
COV504_OVARY93172828931729989317298093172980Nonsense_MutationTAp.K347*

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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.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1153321493199072:93199160:93200026:93200155:93214833:9321491593200026:93200155ENST00000554397.1GBMrs1242104chr14:93200148G/T6.84e-06
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1GBMrs2236264chr14:93199080C/T9.39e-04
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1ESCArs2236264chr14:93199080C/T7.17e-04
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1OVrs2236264chr14:93199080C/T3.76e-09
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1PRADrs2236264chr14:93199080C/T1.80e-05
exon_skip_1153301493185155:93185189:93198993:93199160:93214833:9321491593198993:93199160ENST00000334869.4,ENST00000553802.1,ENST00000557694.1,ENST00000556097.1,ENST00000557609.1,ENST00000557434.1STADrs2236264chr14:93199080C/T1.64e-04
exon_skip_1153311493199072:93199160:93200026:93200155:93207406:9320752493200026:93200155ENST00000554080.1GBMrs1242104chr14:93200148G/T6.84e-06
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1GBMrs9791chr14:93170993A/G1.20e-05
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1CESCrs9791chr14:93170993A/G3.66e-06
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1BLCArs9791chr14:93170993A/G2.18e-05
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1ESCArs9791chr14:93170993A/G9.68e-11
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1HNSCrs9791chr14:93170993A/G9.78e-21
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1BRCArs9791chr14:93170993A/G1.63e-27
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1KICHrs9791chr14:93170993A/G5.62e-06
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1KICHrs9791chr14:93170993A/G1.52e-05
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1KIRPrs9791chr14:93170993A/G2.65e-06
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1LGGrs9791chr14:93170993A/G2.75e-17
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1LGGrs9791chr14:93170993A/G1.47e-03
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1KIRCrs9791chr14:93170993A/G9.59e-30
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1LUADrs9791chr14:93170993A/G4.38e-19
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1LUSCrs9791chr14:93170993A/G3.61e-15
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1OVrs9791chr14:93170993A/G2.43e-05
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1PAADrs9791chr14:93170993A/G9.84e-07
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1PRADrs9791chr14:93170993A/G3.90e-20
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1SARCrs9791chr14:93170993A/G1.35e-10
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1TGCTrs9791chr14:93170993A/G1.95e-05
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1STADrs9791chr14:93170993A/G6.01e-09
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1THCArs9791chr14:93170993A/G8.45e-12
exon_skip_1152951493170620:93170706:93170984:93171052:93176016:9317608693170984:93171052ENST00000557434.1THCArs9791chr14:93170993A/G2.02e-03
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1GBMrs9791chr14:93170993A/G1.20e-05
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1CESCrs9791chr14:93170993A/G3.66e-06
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1BLCArs9791chr14:93170993A/G2.18e-05
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1ESCArs9791chr14:93170993A/G9.68e-11
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1HNSCrs9791chr14:93170993A/G9.78e-21
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1BRCArs9791chr14:93170993A/G1.63e-27
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1KICHrs9791chr14:93170993A/G5.62e-06
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1KICHrs9791chr14:93170993A/G1.52e-05
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1KIRPrs9791chr14:93170993A/G2.65e-06
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1LGGrs9791chr14:93170993A/G2.75e-17
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1LGGrs9791chr14:93170993A/G1.47e-03
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1KIRCrs9791chr14:93170993A/G9.59e-30
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1LUADrs9791chr14:93170993A/G4.38e-19
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1LUSCrs9791chr14:93170993A/G3.61e-15
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1OVrs9791chr14:93170993A/G2.43e-05
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1PAADrs9791chr14:93170993A/G9.84e-07
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1PRADrs9791chr14:93170993A/G3.90e-20
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1SARCrs9791chr14:93170993A/G1.35e-10
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1TGCTrs9791chr14:93170993A/G1.95e-05
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1STADrs9791chr14:93170993A/G6.01e-09
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1THCArs9791chr14:93170993A/G8.45e-12
exon_skip_1152941493170632:93170706:93170984:93171052:93172827:9317299893170984:93171052ENST00000334869.4,ENST00000393218.2,ENST00000557609.1THCArs9791chr14:93170993A/G2.02e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LGMN


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LGMN


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RelatedDrugs for LGMN

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank 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
LGMNC0023893Liver Cirrhosis, Experimental1CTD_human