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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 THBS2

check button Gene summary
Gene informationGene symbol

THBS2

Gene ID

7058

Gene namethrombospondin 2
SynonymsTSP2
Cytomap

6q27

Type of geneprotein-coding
Descriptionthrombospondin-2
Modification date20180522
UniProtAcc

P35442

ContextPubMed: THBS2 [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
THBS2

GO:0016525

negative regulation of angiogenesis

20714802


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Exon skipping events across known transcript of Ensembl for THBS2 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 THBS2

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 THBS2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4634156169620292:169620432:169621524:169621622:169622291:169622563169621524:169621622ENSG00000186340.10ENST00000366787.3,ENST00000488355.1
exon_skip_4634166169621524:169621622:169622291:169622563:169623342:169623535169622291:169622563ENSG00000186340.10ENST00000366787.3,ENST00000488355.1
exon_skip_4634196169633001:169633112:169634828:169635002:169637264:169637441169634828:169635002ENSG00000186340.10ENST00000366787.3
exon_skip_4634216169637264:169637441:169637719:169637890:169639693:169639790169637719:169637890ENSG00000186340.10ENST00000366787.3
exon_skip_4634226169639693:169639790:169640546:169640687:169641856:169642053169640546:169640687ENSG00000186340.10ENST00000366787.3
exon_skip_4634246169646291:169646376:169648511:169649068:169650827:169650901169648511:169649068ENSG00000186340.10ENST00000366787.3
exon_skip_4634256169648869:169649068:169650827:169650901:169653818:169653991169650827:169650901ENSG00000186340.10ENST00000366787.3

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

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Exon skipping events with PSIs in GTEx for THBS2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4634156169620292:169620432:169621524:169621622:169622291:169622563169621524:169621622ENSG00000186340.10ENST00000366787.3,ENST00000488355.1
exon_skip_4634166169621524:169621622:169622291:169622563:169623342:169623535169622291:169622563ENSG00000186340.10ENST00000366787.3,ENST00000488355.1
exon_skip_4634196169633001:169633112:169634828:169635002:169637264:169637441169634828:169635002ENSG00000186340.10ENST00000366787.3
exon_skip_4634216169637264:169637441:169637719:169637890:169639693:169639790169637719:169637890ENSG00000186340.10ENST00000366787.3
exon_skip_4634226169639693:169639790:169640546:169640687:169641856:169642053169640546:169640687ENSG00000186340.10ENST00000366787.3
exon_skip_4634246169646291:169646376:169648511:169649068:169650827:169650901169648511:169649068ENSG00000186340.10ENST00000366787.3
exon_skip_4634256169648869:169649068:169650827:169650901:169653818:169653991169650827:169650901ENSG00000186340.10ENST00000366787.3

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 THBS2

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
ENST000003667871696508271696509013UTR-3CDS
ENST00000366787169621524169621622Frame-shift
ENST00000366787169622291169622563Frame-shift
ENST00000366787169648511169649068Frame-shift
ENST00000366787169634828169635002In-frame
ENST00000366787169637719169637890In-frame
ENST00000366787169640546169640687In-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
ENST000003667871696508271696509013UTR-3CDS
ENST00000366787169621524169621622Frame-shift
ENST00000366787169622291169622563Frame-shift
ENST00000366787169648511169649068Frame-shift
ENST00000366787169634828169635002In-frame
ENST00000366787169637719169637890In-frame
ENST00000366787169640546169640687In-frame

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Infer the effects of exon skipping event on protein functional features for THBS2

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
ENST000003667875828117216964054616964068711421282297344
ENST000003667875828117216963771916963789013801550376433
ENST000003667875828117216963482816963500217281901492550

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
ENST000003667875828117216964054616964068711421282297344
ENST000003667875828117216963771916963789013801550376433
ENST000003667875828117216963482816963500217281901492550

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
P35442297344191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442297344318375DomainNote=VWFC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00220
P35442297344316316GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P35442297344330330GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P35442376433191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442376433393425Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433397430Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433408415Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433381431DomainNote=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442492550506543Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550510548Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550521533Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550437492DomainNote=TSP type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550494549DomainNote=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550549589DomainNote=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076


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
P35442297344191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442297344318375DomainNote=VWFC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00220
P35442297344316316GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P35442297344330330GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P35442376433191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442376433393425Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433397430Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433408415Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442376433381431DomainNote=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550191172ChainID=PRO_0000035846;Note=Thrombospondin-2
P35442492550506543Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550510548Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550521533Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P35442492550437492DomainNote=TSP type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550494549DomainNote=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210
P35442492550549589DomainNote=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076


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SNVs in the skipped exons for THBS2

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.
THBS2_SKCM_exon_skip_463424_psi_boxplot.png
boxplot
THBS2_STAD_exon_skip_463424_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BLCATCGA-KQ-A41R-01exon_skip_463421
169637720169637890169637778169637778Frame_Shift_DelG-p.T414fs
LIHCTCGA-DD-A1EG-01exon_skip_463421
169637720169637890169637820169637820Frame_Shift_DelC-p.G400fs
LIHCTCGA-DD-A39Y-01exon_skip_463422
169640547169640687169640647169640647Frame_Shift_DelG-p.P312fs
STADTCGA-BR-8487-01exon_skip_463424
169648512169649068169648522169648523Frame_Shift_DelCT-p.200_200del
STADTCGA-BR-8487-01exon_skip_463424
169648512169649068169648522169648523Frame_Shift_DelCT-p.S200fs
HNSCTCGA-CV-6945-01exon_skip_463424
169648512169649068169648982169648983Frame_Shift_DelCG-p.R46fs
HNSCTCGA-CV-6945-01exon_skip_463424
169648512169649068169648982169648983Frame_Shift_DelCG-p.RG46fs
LIHCTCGA-G3-A3CJ-01exon_skip_463425
169650828169650901169650876169650876Frame_Shift_DelC-p.V2fs
OVTCGA-24-1103-01exon_skip_463416
169622292169622563169622375169622376Frame_Shift_Ins-Cp.S1063fs
LUSCTCGA-21-1078-01exon_skip_463419
169634829169635002169634881169634881Nonsense_MutationGTp.C533*
HNSCTCGA-QK-A6VB-01exon_skip_463422
169640547169640687169640616169640616Nonsense_MutationCTp.W321*
SKCMTCGA-EE-A2MK-06exon_skip_463422
169640547169640687169640626169640626Nonsense_MutationGCp.S318*
SKCMTCGA-EE-A2MK-06exon_skip_463422
169640547169640687169640626169640626Nonsense_MutationGCp.S318X
LUADTCGA-75-5146-01exon_skip_463424
169648512169649068169648565169648565Nonsense_MutationCAp.E186*
LUADTCGA-64-1676-01exon_skip_463424
169648512169649068169648571169648571Nonsense_MutationGAp.Q184*
SKCMTCGA-BF-A5ES-01exon_skip_463424
169648512169649068169648674169648674Nonsense_MutationCTp.W149*
SKCMTCGA-W3-AA1V-06exon_skip_463424
169648512169649068169648675169648675Nonsense_MutationCTp.W149*
OVTCGA-25-2409-01exon_skip_463425
169650828169650901169650827169650827Splice_SiteCTp.A18_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
THBS2_169646291_169646376_169648511_169649068_169650827_169650901_TCGA-W3-AA1V-06Sample: TCGA-W3-AA1V-06
Cancer type: SKCM
ESID: exon_skip_463424
Skipped exon start: 169648512
Skipped exon end: 169649068
Mutation start: 169648675
Mutation end: 169648675
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.W149*
exon_skip_286364_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_297961_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_316320_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_330837_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_349643_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_349644_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_463424_SKCM_TCGA-W3-AA1V-06.png
boxplot
exon_skip_478361_SKCM_TCGA-W3-AA1V-06.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
JHUEM1_ENDOMETRIUM169648512169649068169648522169648523Frame_Shift_DelCT-p.S200fs
OVK18_OVARY169637720169637890169637733169637734Frame_Shift_Ins-Tp.K429fs
HCC1569_BREAST169621525169621622169621532169621532Missense_MutationAGp.Y1122H
HMEL_BREAST169621525169621622169621573169621573Missense_MutationGCp.T1108R
JHUEM3_ENDOMETRIUM169622292169622563169622315169622315Missense_MutationGTp.H1084N
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE169622292169622563169622519169622519Missense_MutationCTp.V1016I
SNU1_STOMACH169634829169635002169634861169634861Missense_MutationCTp.R540H
HCC827GR5_LUNG169634829169635002169634960169634960Missense_MutationGAp.T507I
NCIH510_LUNG169637720169637890169637725169637725Missense_MutationGTp.T432N
SISO_CERVIX169637720169637890169637753169637753Missense_MutationGAp.R423W
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE169637720169637890169637753169637753Missense_MutationGAp.R423W
RKO_LARGE_INTESTINE169640547169640687169640609169640609Missense_MutationCTp.G324S
SNU1_STOMACH169640547169640687169640624169640624Missense_MutationCTp.A319T
HCT116_LARGE_INTESTINE169640547169640687169640644169640644Missense_MutationGAp.P312L
SNU81_LARGE_INTESTINE169640547169640687169640669169640669Missense_MutationGTp.L304I
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE169640547169640687169640680169640680Missense_MutationTAp.D300V
RL952_ENDOMETRIUM169648512169649068169648661169648661Missense_MutationCTp.V154M
MERO95_LUNG169648512169649068169648672169648672Missense_MutationTCp.K150R
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE169648512169649068169648703169648703Missense_MutationCTp.E140K
LAN2_AUTONOMIC_GANGLIA169648512169649068169648757169648757Missense_MutationCAp.D122Y
NCIH358_LUNG169648512169649068169648790169648790Missense_MutationTAp.R111W
MEWO_SKIN169648512169649068169648799169648799Missense_MutationGAp.L108F
SKMEL28_SKIN169648512169649068169648844169648844Missense_MutationCTp.D93N
COLO668_LUNG169648512169649068169648861169648861Missense_MutationGCp.T87R
SW48_LARGE_INTESTINE169648512169649068169648898169648898Missense_MutationTCp.T75A
MS751_CERVIX169648512169649068169648961169648961Missense_MutationCTp.A54T
NCIH747_LARGE_INTESTINE169648512169649068169648963169648963Missense_MutationGAp.P53L
HEC151_ENDOMETRIUM169648512169649068169648982169648982Missense_MutationCTp.G47R
SNGM_ENDOMETRIUM169648512169649068169648982169648982Missense_MutationCTp.G47R
SNU1040_LARGE_INTESTINE169648512169649068169648997169648997Missense_MutationCTp.A42T
SNU475_LIVER169648512169649068169649060169649060Missense_MutationGTp.Q21K
NCIH1915_LUNG169648512169649068169649062169649062Missense_MutationTAp.H20L
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE169650828169650901169650833169650833Missense_MutationGAp.T16M
CW2_LARGE_INTESTINE169622292169622563169622316169622316Nonsense_MutationCTp.W1083*
NCIH2286_LUNG169634829169635002169634917169634917Nonsense_MutationGTp.C521*
HEC50B_ENDOMETRIUM169637720169637890169637868169637868Nonsense_MutationCTp.W384*
SN12C_KIDNEY169634829169635002169634830169634830Splice_SiteCAp.V550V
SISO_CERVIX169648512169649068169649068169649068Splice_SiteGTp.A18D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for THBS2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for THBS2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for THBS2


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RelatedDrugs for THBS2

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 THBS2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
THBS2C0011849Diabetes Mellitus1CTD_human
THBS2C0011875Diabetic Angiopathies1CTD_human