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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: 16914

FusionGeneSummary for HSPBP1_SF3B2

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPBP1_SF3B2
Fusion gene ID: 16914
HgeneTgene
Gene symbol

HSPBP1

SF3B2

Gene ID

23640

10992

Gene nameHSPA (Hsp70) binding protein 1splicing factor 3b subunit 2
SynonymsFES1Cus1|SAP145|SF3B145|SF3b1|SF3b150
Cytomap

19q13.42

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionhsp70-binding protein 1HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1heat shock protein-binding protein 1hsp70 interacting proteinsplicing factor 3B subunit 2SAP 145pre-mRNA splicing factor SF3b 145 kDa subunitspliceosome associated protein 145splicing factor 3b, subunit 2, 145kDsplicing factor 3b, subunit 2, 145kDa
Modification date2018052720180523
UniProtAcc

Q9NZL4

Q13435

Ensembl transtripts involved in fusion geneENST00000255631, ENST00000433386, 
ENST00000376343, ENST00000587922, 
ENST00000534307, ENST00000528302, 
ENST00000322535, 
Fusion gene scores* DoF score5 X 5 X 3=756 X 5 X 4=120
# samples 810
** MAII scorelog2(8/75*10)=0.0931094043914815
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPBP1 [Title/Abstract] AND SF3B2 [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
HgeneHSPBP1

GO:0031398

positive regulation of protein ubiquitination

16831871

HgeneHSPBP1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

16831871


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
ChiTaRS3.1BU191520HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
ChiTaRS3.1BQ877910HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
ChiTaRS3.1BC051237HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
ChiTaRS3.1BQ898162HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
* 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-intronENST00000255631ENST00000534307HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000255631ENST00000528302HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000255631ENST00000322535HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000433386ENST00000534307HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000433386ENST00000528302HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000433386ENST00000322535HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000376343ENST00000534307HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000376343ENST00000528302HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000376343ENST00000322535HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000587922ENST00000534307HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000587922ENST00000528302HSPBP1chr19

55790975

-SF3B2chr11

65828125

+
intron-intronENST00000587922ENST00000322535HSPBP1chr19

55790975

-SF3B2chr11

65828125

+

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FusionProtFeatures for HSPBP1_SF3B2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPBP1

Q9NZL4

SF3B2

Q13435

Inhibits HSPA1A chaperone activity by changing theconformation of the ATP-binding domain of HSPA1A and interferingwith ATP binding. Interferes with ubiquitination mediated by STUB1and inhibits chaperone-assisted degradation of immature CFTR.{ECO:0000269|PubMed:10786638, ECO:0000269|PubMed:12651857,ECO:0000269|PubMed:15215316, ECO:0000269|PubMed:9830037}. Involved in pre-mRNA splicing as a component of thesplicing factor SF3B complex (PubMed:27720643). SF3B complex isrequired for 'A' complex assembly formed by the stable binding ofU2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequenceindependent binding of SF3A/SF3B complex upstream of the branchsite is essential, it may anchor U2 snRNP to the pre-mRNA(PubMed:12234937). May also be involved in the assembly of the 'E'complex (PubMed:10882114). Belongs also to the minor U12-dependentspliceosome, which is involved in the splicing of rare class ofnuclear pre-mRNA intron (PubMed:15146077).{ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937,ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643}.

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 HSPBP1_SF3B2


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 HSPBP1_SF3B2


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 HSPBP1_SF3B2


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 HSPBP1_SF3B2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource