ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for SERPINE2

check button Gene summary
Gene informationGene symbol

SERPINE2

Gene ID

5270

Gene nameserpin family E member 2
SynonymsGDN|GDNPF|PI-7|PI7|PN-1|PN1|PNI
Cytomap

2q36.1

Type of geneprotein-coding
Descriptionglia-derived nexinglial-derived neurite promoting factorpeptidase inhibitor 7protease nexin Iserpin E2serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
Modification date20180523
UniProtAcc

P07093

ContextPubMed: SERPINE2 [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
SERPINE2

GO:0030195

negative regulation of blood coagulation

17379830

SERPINE2

GO:0045861

negative regulation of proteolysis

3997857|17379830

SERPINE2

GO:0048711

positive regulation of astrocyte differentiation

1691280


Top

Exon skipping events across known transcript of Ensembl for SERPINE2 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

Top

Gene isoform structures and expression levels for SERPINE2

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

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


Top

Exon skipping events with PSIs in TCGA for SERPINE2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3471502224840530:224840621:224842260:224842344:224845027:224845114224842260:224842344ENSG00000135919.8ENST00000447280.2,ENST00000258405.4,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1
exon_skip_3471702224842260:224842344:224845027:224845114:224847397:224847498224845027:224845114ENSG00000135919.8ENST00000447280.2,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1
exon_skip_3471722224842260:224842344:224845027:224845117:224847397:224847498224845027:224845117ENSG00000135919.8ENST00000258405.4
exon_skip_3471822224845027:224845114:224847397:224847498:224849468:224849667224847397:224847498ENSG00000135919.8ENST00000447280.2,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1
exon_skip_3471892224849525:224849667:224856519:224856717:224862831:224863056224856519:224856717ENSG00000135919.8ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1
exon_skip_3471952224856519:224856717:224862831:224863059:224866358:224866639224862831:224863059ENSG00000135919.8ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1
exon_skip_3472012224862831:224863059:224866358:224866639:224903815:224904005224866358:224866639ENSG00000135919.8ENST00000258405.4
exon_skip_3472022224866490:224866639:224875059:224875103:224878571:224878659224875059:224875103ENSG00000135919.8ENST00000432738.1
exon_skip_3472042224866547:224866639:224875059:224875103:224903815:224904005224875059:224875103ENSG00000135919.8ENST00000454956.1

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

Top

Exon skipping events with PSIs in GTEx for SERPINE2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3471502224840530:224840621:224842260:224842344:224845027:224845114224842260:224842344ENSG00000135919.8ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1
exon_skip_3471702224842260:224842344:224845027:224845114:224847397:224847498224845027:224845114ENSG00000135919.8ENST00000409304.1,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1
exon_skip_3471722224842260:224842344:224845027:224845117:224847397:224847498224845027:224845117ENSG00000135919.8ENST00000258405.4
exon_skip_3471822224845027:224845114:224847397:224847498:224849468:224849667224847397:224847498ENSG00000135919.8ENST00000409304.1,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1
exon_skip_3471892224849525:224849667:224856519:224856717:224862831:224863056224856519:224856717ENSG00000135919.8ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000432738.1
exon_skip_3471952224856519:224856717:224862831:224863059:224866358:224866639224862831:224863059ENSG00000135919.8ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000432738.1
exon_skip_3472012224862831:224863059:224866358:224866639:224903815:224904005224866358:224866639ENSG00000135919.8ENST00000258405.4
exon_skip_3472022224866490:224866639:224875059:224875103:224878571:224878659224875059:224875103ENSG00000135919.8ENST00000432738.1
exon_skip_3472042224866547:224866639:224875059:224875103:224903815:224904005224875059:224875103ENSG00000135919.8ENST00000454956.1

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

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for SERPINE2

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
ENST000002584052248663582248666393UTR-3CDS
ENST00000258405224842260224842344In-frame
ENST00000258405224845027224845117In-frame
ENST00000258405224856519224856717In-frame
ENST00000258405224862831224863059In-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
ENST000002584052248663582248666393UTR-3CDS
ENST00000258405224842260224842344In-frame
ENST00000258405224845027224845117In-frame
ENST00000258405224856519224856717In-frame
ENST00000258405224862831224863059In-frame

Top

Infer the effects of exon skipping event on protein functional features for SERPINE2

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
ENST00000258405221239822486283122486305950373086162
ENST000002584052212398224856519224856717731928162228
ENST00000258405221239822484502722484511712291318328358
ENST00000258405221239822484226022484234413191402358386

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
ENST00000258405221239822486283122486305950373086162
ENST000002584052212398224856519224856717731928162228
ENST00000258405221239822484502722484511712291318328358
ENST00000258405221239822484226022484234413191402358386

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
P0709386162109117Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162136140Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P070938616220398ChainID=PRO_0000032504;Note=Glia-derived nexin
P0709386162118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0709386162159159GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P070938616289100HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162102104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162124134HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162146160HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162159159Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07093861628688TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162161163TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228181189Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228193195Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228203208Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228210212Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093162228214232Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709316222820398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093162228171173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228199201HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228204204Natural variantID=VAR_036027;Note=In a breast cancer sample%3B somatic mutation. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974
P07093162228161163TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093328358329330Alternative sequenceID=VSP_038367;Note=In isoform 2 and isoform 3. TG->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3427015;Dbxref=PMID:14702039,PMID:15489334,PMID:3427015
P07093328358328330Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093328358338347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093328358354356Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P0709332835820398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093328358357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093358386370372Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093358386377383Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709335838620398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093358386357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093358386365366SiteNote=Reactive bond;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07093358386384387TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0


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
P0709386162109117Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162136140Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P070938616220398ChainID=PRO_0000032504;Note=Glia-derived nexin
P0709386162118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0709386162159159GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P070938616289100HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162102104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162124134HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162146160HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162159159Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07093861628688TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709386162161163TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228181189Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228193195Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228203208Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228210212Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093162228214232Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709316222820398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093162228171173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228199201HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228204204Natural variantID=VAR_036027;Note=In a breast cancer sample%3B somatic mutation. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974
P07093162228161163TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093162228176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093328358329330Alternative sequenceID=VSP_038367;Note=In isoform 2 and isoform 3. TG->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3427015;Dbxref=PMID:14702039,PMID:15489334,PMID:3427015
P07093328358328330Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093328358338347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093328358354356Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P0709332835820398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093328358357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093358386370372Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P07093358386377383Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0
P0709335838620398ChainID=PRO_0000032504;Note=Glia-derived nexin
P07093358386357360HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7
P07093358386365366SiteNote=Reactive bond;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07093358386384387TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0


Top

SNVs in the skipped exons for SERPINE2

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
LIHCTCGA-DD-A39Y-01exon_skip_347170
224845028224845114224845105224845105Frame_Shift_DelT-p.N332fs
LIHCTCGA-DD-A39Y-01exon_skip_347172
224845028224845117224845105224845105Frame_Shift_DelT-p.N332fs
LIHCTCGA-DD-A3A0-01exon_skip_347201
224866359224866639224866413224866413Frame_Shift_DelC-p.A69fs
HNSCTCGA-MT-A67F-01exon_skip_347189
224856520224856717224856626224856626Nonsense_MutationCTp.W193*
STADTCGA-HF-7132-01exon_skip_347195
224862832224863059224863030224863030Nonsense_MutationTAp.K109X
STADTCGA-HF-7132-01exon_skip_347195
224862832224863059224863030224863030Nonsense_MutationTAp.K97*
LIHCTCGA-DD-AADW-01exon_skip_347182
224847398224847498224847396224847399Splice_SiteTACT-.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
22RV1_PROSTATE224842261224842344224842281224842281Frame_Shift_DelA-p.F380fs
COLO684_ENDOMETRIUM224866359224866639224866451224866452Frame_Shift_Ins-Gp.H56fs
CW2_LARGE_INTESTINE224842261224842344224842303224842303Missense_MutationCTp.V373I
HEC6_ENDOMETRIUM224845028224845114224845042224845042Missense_MutationGTp.A354D
HEC6_ENDOMETRIUM224845028224845117224845042224845042Missense_MutationGTp.A354D
C10_LARGE_INTESTINE224845028224845114224845076224845076Missense_MutationCTp.A343T
C10_LARGE_INTESTINE224845028224845117224845076224845076Missense_MutationCTp.A343T
SW948_LARGE_INTESTINE224845028224845114224845093224845093Missense_MutationGTp.S337Y
SW948_LARGE_INTESTINE224845028224845117224845093224845093Missense_MutationGTp.S337Y
HEC251_ENDOMETRIUM224847398224847498224847452224847452Missense_MutationGTp.L311I
HEC50B_ENDOMETRIUM224847398224847498224847463224847463Missense_MutationGTp.P307Q
HOP92_LUNG224856520224856717224856543224856543Missense_MutationGAp.A221V
SNUC2A_LARGE_INTESTINE224856520224856717224856583224856583Missense_MutationCTp.V208M
SNUC2B_LARGE_INTESTINE224856520224856717224856583224856583Missense_MutationCTp.V208M
HCC1143_BREAST224856520224856717224856593224856593Missense_MutationTAp.K204N
SW684_SOFT_TISSUE224856520224856717224856596224856596Missense_MutationCAp.K203N
HCC2998_LARGE_INTESTINE224856520224856717224856690224856690Missense_MutationTGp.D172A
NCIH1339_LUNG224862832224863059224862925224862925Missense_MutationCGp.D132H
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224862832224863059224862964224862964Missense_MutationCTp.A119T
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224862832224863059224862982224862982Missense_MutationCTp.A113T
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224862832224863059224863056224863056Missense_MutationAGp.V88A
NCIH1793_LUNG224866359224866639224866365224866365Missense_MutationCTp.V85I
HEC108_ENDOMETRIUM224866359224866639224866367224866367Missense_MutationCTp.G84D
HEC108_ENDOMETRIUM224866359224866639224866380224866380Missense_MutationCTp.V80M
SNU1040_LARGE_INTESTINE224866359224866639224866442224866442Missense_MutationGAp.A59V
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224866359224866639224866443224866443Missense_MutationCTp.A59T
CW2_LARGE_INTESTINE224866359224866639224866443224866443Missense_MutationCTp.A59T
NCIH510_LUNG224866359224866639224866554224866554Missense_MutationATp.F22I
MZ7B_MATCHED_NORMAL_TISSUE224866359224866639224866594224866594Missense_MutationGCp.F8L
MZ7MEL_SKIN224866359224866639224866594224866594Missense_MutationGCp.F8L
MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224866359224866639224866497224866497Nonsense_MutationGAp.Q41*
SKLU1_LUNG224866359224866639224866610224866610Nonsense_MutationCTp.W3*
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE224862832224863059224862833224862833Splice_SiteCTp.R162R

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINE2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3471952224856519:224856717:224862831:224863059:224866358:224866639224862831:224863059ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1LGGrs12457chr2:224862842A/G2.59e-04
exon_skip_3471952224856519:224856717:224862831:224863059:224866358:224866639224862831:224863059ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1LGGrs12457chr2:224862842A/G3.86e-04

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINE2


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINE2


Top

RelatedDrugs for SERPINE2

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

Top

RelatedDiseases for SERPINE2

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