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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37972

FusionGeneSummary for THBS1_PRPF8

check button Fusion gene summary
Fusion gene informationFusion gene name: THBS1_PRPF8
Fusion gene ID: 37972
HgeneTgene
Gene symbol

THBS1

PRPF8

Gene ID

7057

10594

Gene namethrombospondin 1pre-mRNA processing factor 8
SynonymsTHBS|THBS-1|TSP|TSP-1|TSP1HPRP8|PRP8|PRPC8|RP13|SNRNP220
Cytomap

15q14

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionthrombospondin-1thrombospondin-1p180thrombospondin-p50pre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2
Modification date2018052320180523
UniProtAcc

P07996

Q6P2Q9

Ensembl transtripts involved in fusion geneENST00000260356, ENST00000304992, 
ENST00000572621, ENST00000575116, 
Fusion gene scores* DoF score6 X 6 X 2=726 X 9 X 4=216
# samples 710
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/216*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: THBS1 [Title/Abstract] AND PRPF8 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTHBS1

GO:0001937

negative regulation of endothelial cell proliferation

16150726|17996481

HgeneTHBS1

GO:0001953

negative regulation of cell-matrix adhesion

16150726|17416590

HgeneTHBS1

GO:0002581

negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II

16882710

HgeneTHBS1

GO:0002605

negative regulation of dendritic cell antigen processing and presentation

16882710

HgeneTHBS1

GO:0006954

inflammatory response

23144964

HgeneTHBS1

GO:0007050

cell cycle arrest

17596205

HgeneTHBS1

GO:0008284

positive regulation of cell proliferation

24615654

HgeneTHBS1

GO:0009749

response to glucose

18096704

HgeneTHBS1

GO:0010595

positive regulation of endothelial cell migration

18555217

HgeneTHBS1

GO:0010596

negative regulation of endothelial cell migration

18555217

HgeneTHBS1

GO:0010748

negative regulation of plasma membrane long-chain fatty acid transport

17416590

HgeneTHBS1

GO:0010751

negative regulation of nitric oxide mediated signal transduction

16150726|17416590

HgeneTHBS1

GO:0010754

negative regulation of cGMP-mediated signaling

17416590

HgeneTHBS1

GO:0010757

negative regulation of plasminogen activation

6438154

HgeneTHBS1

GO:0010763

positive regulation of fibroblast migration

18555217

HgeneTHBS1

GO:0016477

cell migration

18555217

HgeneTHBS1

GO:0016525

negative regulation of angiogenesis

16150726|17596205|17996481|18726995

HgeneTHBS1

GO:0018149

peptide cross-linking

3997886

HgeneTHBS1

GO:0030194

positive regulation of blood coagulation

3997886

HgeneTHBS1

GO:0030335

positive regulation of cell migration

15700281

HgeneTHBS1

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

18555217

HgeneTHBS1

GO:0030823

regulation of cGMP metabolic process

16150726

HgeneTHBS1

GO:0032026

response to magnesium ion

6777381

HgeneTHBS1

GO:0032695

negative regulation of interleukin-12 production

16882710

HgeneTHBS1

GO:0040037

negative regulation of fibroblast growth factor receptor signaling pathway

17996481

HgeneTHBS1

GO:0042535

positive regulation of tumor necrosis factor biosynthetic process

18726995

HgeneTHBS1

GO:0043032

positive regulation of macrophage activation

18757424

HgeneTHBS1

GO:0043066

negative regulation of apoptotic process

18653767

HgeneTHBS1

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

18653767

HgeneTHBS1

GO:0043536

positive regulation of blood vessel endothelial cell migration

18555217

HgeneTHBS1

GO:0043537

negative regulation of blood vessel endothelial cell migration

18555217

HgeneTHBS1

GO:0043652

engulfment of apoptotic cell

16882710

HgeneTHBS1

GO:0045727

positive regulation of translation

15700281

HgeneTHBS1

GO:0048661

positive regulation of smooth muscle cell proliferation

24615654

HgeneTHBS1

GO:0050921

positive regulation of chemotaxis

18555217

HgeneTHBS1

GO:0051592

response to calcium ion

6777381|18757424

HgeneTHBS1

GO:0051897

positive regulation of protein kinase B signaling

18653767

HgeneTHBS1

GO:0051918

negative regulation of fibrinolysis

6438154

HgeneTHBS1

GO:1902043

positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

18726995

HgeneTHBS1

GO:2000353

positive regulation of endothelial cell apoptotic process

18726995

HgeneTHBS1

GO:2000379

positive regulation of reactive oxygen species metabolic process

18757424

HgeneTHBS1

GO:2001027

negative regulation of endothelial cell chemotaxis

16150726

TgenePRPF8

GO:0000244

spliceosomal tri-snRNP complex assembly

20595234

TgenePRPF8

GO:0000398

mRNA splicing, via spliceosome

28781166


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI046008THBS1chr15

39875351

+PRPF8chr17

1584325

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000260356ENST00000304992THBS1chr15

39875351

+PRPF8chr17

1584325

-
intron-3CDSENST00000260356ENST00000572621THBS1chr15

39875351

+PRPF8chr17

1584325

-
intron-intronENST00000260356ENST00000575116THBS1chr15

39875351

+PRPF8chr17

1584325

-

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FusionProtFeatures for THBS1_PRPF8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
THBS1

P07996

PRPF8

Q6P2Q9

Adhesive glycoprotein that mediates cell-to-cell andcell-to-matrix interactions. Binds heparin. May play a role indentinogenesis and/or maintenance of dentin and dental pulp (Bysimilarity). Ligand for CD36 mediating antiangiogenic properties.Plays a role in ER stress response, via its interaction with theactivating transcription factor 6 alpha (ATF6) which producesadaptive ER stress response factors (By similarity). {ECO:0000250,ECO:0000269|PubMed:11134179, ECO:0000269|PubMed:15014436}. Functions as a scaffold that mediates the orderedassembly of spliceosomal proteins and snRNAs. Required for theassembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffoldthat positions spliceosomal U2, U5 and U6 snRNAs at splice siteson pre-mRNA substrates, so that splicing can occur. Interacts withboth the 5' and the 3' splice site. {ECO:0000269|PubMed:20595234,ECO:0000303|PubMed:15840809}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for THBS1_PRPF8


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for THBS1_PRPF8


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for THBS1_PRPF8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for THBS1_PRPF8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTHBS1C0011875Diabetic Angiopathies1CTD_human
HgeneTHBS1C0011884Diabetic Retinopathy1CTD_human
HgeneTHBS1C0016059Fibrosis1CTD_human
HgeneTHBS1C0023890Liver Cirrhosis1CTD_human
HgeneTHBS1C0027707Nephritis, Interstitial1CTD_human
HgeneTHBS1C0035126Reperfusion Injury1CTD_human
HgeneTHBS1C0036341Schizophrenia1CTD_human
HgeneTHBS1C1458155Mammary Neoplasms1CTD_human
HgeneTHBS1C3495559Juvenile arthritis1CTD_human
TgenePRPF8C1838702Retinitis Pigmentosa 132CTD_human;UNIPROT
TgenePRPF8C0019693HIV Infections1CTD_human