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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:HSPA8-HSPD1 (FusionGDB2 ID:37887)

Fusion Gene Summary for HSPA8-HSPD1

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPA8-HSPD1
Fusion gene ID: 37887
HgeneTgene
Gene symbol

HSPA8

HSPD1

Gene ID

3312

3329

Gene nameheat shock protein family A (Hsp70) member 8heat shock protein family D (Hsp60) member 1
SynonymsHEL-33|HEL-S-72p|HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP-1|LAP1|NIP71CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13
Cytomap

11q24.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionheat shock cognate 71 kDa proteinLPS-associated protein 1N-myristoyltransferase inhibitor protein 71constitutive heat shock protein 70epididymis luminal protein 33epididymis secretory sperm binding protein Li 72pheat shock 70kDa protein 8heat shock60 kDa heat shock protein, mitochondrial60 kDa chaperoninP60 lymphocyte proteinchaperonin 60epididymis secretory sperm binding proteinheat shock 60kDa protein 1 (chaperonin)heat shock protein 65mitochondrial matrix protein P1short heat shock prote
Modification date2020032720200315
UniProtAcc

P11142

P10809

Ensembl transtripts involved in fusion geneENST00000227378, ENST00000453788, 
ENST00000526110, ENST00000526862, 
ENST00000532636, ENST00000533540, 
ENST00000534319, ENST00000534624, 
ENST00000388968, ENST00000345042, 
ENST00000544407, 
Fusion gene scores* DoF score15 X 15 X 7=157514 X 10 X 6=840
# samples 1716
** MAII scorelog2(17/1575*10)=-3.21174517713694
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/840*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPA8 [Title/Abstract] AND HSPD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPA8(122930042)-HSPD1(198364590), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneHSPA8

GO:0042026

protein refolding

21231916|25719862

HgeneHSPA8

GO:0045892

negative regulation of transcription, DNA-templated

10722728

HgeneHSPA8

GO:0046034

ATP metabolic process

23921388

HgeneHSPA8

GO:1902904

negative regulation of supramolecular fiber organization

23921388

TgeneHSPD1

GO:0002368

B cell cytokine production

16148103

TgeneHSPD1

GO:0002755

MyD88-dependent toll-like receptor signaling pathway

16148103

TgeneHSPD1

GO:0002842

positive regulation of T cell mediated immune response to tumor cell

10663613

TgeneHSPD1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17823127

TgeneHSPD1

GO:0006986

response to unfolded protein

11050098

TgeneHSPD1

GO:0032727

positive regulation of interferon-alpha production

17164250

TgeneHSPD1

GO:0032729

positive regulation of interferon-gamma production

17164250

TgeneHSPD1

GO:0032733

positive regulation of interleukin-10 production

16148103

TgeneHSPD1

GO:0032735

positive regulation of interleukin-12 production

17164250

TgeneHSPD1

GO:0032755

positive regulation of interleukin-6 production

16148103

TgeneHSPD1

GO:0042026

protein refolding

11050098

TgeneHSPD1

GO:0042100

B cell proliferation

16148103

TgeneHSPD1

GO:0042110

T cell activation

15371451|17164250|18256040

TgeneHSPD1

GO:0042113

B cell activation

16148103

TgeneHSPD1

GO:0043032

positive regulation of macrophage activation

17164250

TgeneHSPD1

GO:0044406

adhesion of symbiont to host

20633027

TgeneHSPD1

GO:0048291

isotype switching to IgG isotypes

16148103

TgeneHSPD1

GO:0050870

positive regulation of T cell activation

16148103|17164250


check buttonFusion gene breakpoints across HSPA8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HSPD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ADB195849HSPA8chr11

122930042

-HSPD1chr2

198364590

-


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Fusion Gene ORF analysis for HSPA8-HSPD1

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-5UTRENST00000227378ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000453788ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000526110ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000526862ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000532636ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000533540ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000534319ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-5UTRENST00000534624ENST00000388968HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000227378ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000227378ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000453788ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000453788ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000526110ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000526110ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000526862ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000526862ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000532636ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000532636ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000533540ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000533540ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000534319ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000534319ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000534624ENST00000345042HSPA8chr11

122930042

-HSPD1chr2

198364590

-
intron-intronENST00000534624ENST00000544407HSPA8chr11

122930042

-HSPD1chr2

198364590

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for HSPA8-HSPD1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HSPA8-HSPD1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:122930042/:198364590)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPA8

P11142

HSPD1

P10809

FUNCTION: Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488). This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488, PubMed:12526792). The co-chaperones have been shown to not only regulate different steps of the ATPase cycle of HSP70, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661, PubMed:23018488, PubMed:12526792). The affinity of HSP70 for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. HSP70 goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The HSP70-associated co-chaperones are of three types: J-domain co-chaperones HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24318877, PubMed:27474739, PubMed:24121476, PubMed:26865365). Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70 (PubMed:12526792). Acts as a repressor of transcriptional activation. Inhibits the transcriptional coactivator activity of CITED1 on Smad-mediated transcription. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:10722728, PubMed:11276205). Participates in the ER-associated degradation (ERAD) quality control pathway in conjunction with J domain-containing co-chaperones and the E3 ligase STUB1 (PubMed:23990462). Interacts with VGF-derived peptide TLQP-21 (PubMed:28934328). {ECO:0000269|PubMed:10722728, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:12526792, ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:23018488, ECO:0000269|PubMed:23990462, ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27474739, ECO:0000269|PubMed:27916661, ECO:0000269|PubMed:28934328, ECO:0000303|PubMed:24121476, ECO:0000303|PubMed:26865365}.FUNCTION: Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable). {ECO:0000269|PubMed:11422376, ECO:0000269|PubMed:1346131, ECO:0000305|PubMed:25918392}.

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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Fusion Gene Sequence for HSPA8-HSPD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HSPA8-HSPD1


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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Related Drugs for HSPA8-HSPD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HSPA8-HSPD1


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