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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: 16126

FusionGeneSummary for HEXA_HSPA8

check button Fusion gene summary
Fusion gene informationFusion gene name: HEXA_HSPA8
Fusion gene ID: 16126
HgeneTgene
Gene symbol

HEXA

HSPA8

Gene ID

3073

3312

Gene namehexosaminidase subunit alphaheat shock protein family A (Hsp70) member 8
SynonymsTSDHEL-33|HEL-S-72p|HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP-1|LAP1|NIP71
Cytomap

15q23

11q24.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-hexosaminidase subunit alphaN-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphahexosaminidase A (alpha polypeptide)hexosaminidase subunit Aheat 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 shock
Modification date2018051920180527
UniProtAcc

P06865

P11142

Ensembl transtripts involved in fusion geneENST00000268097, ENST00000566304, 
ENST00000457859, ENST00000567159, 
ENST00000429918, ENST00000567213, 
ENST00000532636, ENST00000533540, 
ENST00000453788, ENST00000534624, 
ENST00000227378, ENST00000534319, 
ENST00000526110, ENST00000526862, 
Fusion gene scores* DoF score5 X 5 X 3=7513 X 14 X 4=728
# samples 616
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/728*10)=-2.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HEXA [Title/Abstract] AND HSPA8 [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
HgeneHEXA

GO:0006024

glycosaminoglycan biosynthetic process

25645918

TgeneHSPA8

GO:0042026

protein refolding

21231916|25719862

TgeneHSPA8

GO:0045892

negative regulation of transcription, DNA-templated

10722728

TgeneHSPA8

GO:0046034

ATP metabolic process

23921388

TgeneHSPA8

GO:1902904

negative regulation of supramolecular fiber organization

23921388


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
ChiTaRS3.1BQ324959HEXAchr15

72638935

+HSPA8chr11

122929161

-
* 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-3CDSENST00000268097ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000268097ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000268097ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000566304ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000566304ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000566304ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000457859ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000457859ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000457859ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000567159ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000567159ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567159ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000429918ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000429918ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000429918ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000567213ENST00000532636HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-3CDSENST00000567213ENST00000533540HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000453788HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000534624HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000227378HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000534319HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000526110HEXAchr15

72638935

+HSPA8chr11

122929161

-
intron-intronENST00000567213ENST00000526862HEXAchr15

72638935

+HSPA8chr11

122929161

-

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FusionProtFeatures for HEXA_HSPA8


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

P06865

HSPA8

P11142

Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. The form B is activeagainst certain oligosaccharides. The form S has no measurableactivity. Molecular chaperone implicated in a wide variety ofcellular processes, including protection of the proteome fromstress, folding and transport of newly synthesized polypeptides,activation of proteolysis of misfolded proteins and the formationand dissociation of protein complexes. Plays a pivotal role in theprotein quality control system, ensuring the correct folding ofproteins, the re-folding of misfolded proteins and controlling thetargeting 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). The co-chaperones have beenshown to not only regulate different steps of the ATPase cycle ofHSP70, but they also have an individual specificity such that oneco-chaperone may promote folding of a substrate while another maypromote degradation (PubMed:21150129, PubMed:21148293,PubMed:24732912, PubMed:27916661, PubMed:23018488). The affinityof HSP70 for polypeptides is regulated by its nucleotide boundstate. In the ATP-bound form, it has a low affinity for substrateproteins. However, upon hydrolysis of the ATP to ADP, it undergoesa conformational change that increases its affinity for substrateproteins. HSP70 goes through repeated cycles of ATP hydrolysis andnucleotide exchange, which permits cycles of substrate binding andrelease. The HSP70-associated co-chaperones are of three types: J-domain co-chaperones HSP40s (stimulate ATPase hydrolysis byHSP70), 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 TPRdomain chaperones such as HOPX and STUB1 (PubMed:24318877,PubMed:27474739, PubMed:24121476, PubMed:26865365). Acts as arepressor of transcriptional activation. Inhibits thetranscriptional coactivator activity of CITED1 on Smad-mediatedtranscription. Component of the PRP19-CDC5L complex that forms anintegral part of the spliceosome and is required for activatingpre-mRNA splicing. May have a scaffolding role in the spliceosomeassembly as it contacts all other components of the core complex.Binds bacterial lipopolysaccharide (LPS) and mediates LPS-inducedinflammatory response, including TNF secretion by monocytes(PubMed:10722728, PubMed:11276205). Participates in the ER-associated degradation (ERAD) quality control pathway inconjunction with J domain-containing co-chaperones and the E3ligase STUB1 (PubMed:23990462). {ECO:0000269|PubMed:10722728,ECO:0000269|PubMed:11276205, 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:0000303|PubMed:24121476,ECO:0000303|PubMed:26865365}.

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 HEXA_HSPA8


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 HEXA_HSPA8


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 HEXA_HSPA8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHSPA8P11142DB01254DasatinibHeat shock cognate 71 kDa proteinsmall moleculeapproved|investigational
TgeneHSPA8P11142DB11638ArtenimolHeat shock cognate 71 kDa proteinsmall moleculeapproved|investigational

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RelatedDiseases for HEXA_HSPA8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHEXAC0039373Tay-Sachs Disease22CTD_human;UNIPROT
HgeneHEXAC3714756Intellectual Disability1CTD_human
TgeneHSPA8C0001418Adenocarcinoma1CTD_human
TgeneHSPA8C0007137Squamous cell carcinoma1CTD_human
TgeneHSPA8C0026640Mouth Neoplasms1CTD_human
TgeneHSPA8C0035126Reperfusion Injury1CTD_human
TgeneHSPA8C0038356Stomach Neoplasms1CTD_human
TgeneHSPA8C0948089Acute Coronary Syndrome1CTD_human
TgeneHSPA8C1846707SPINOCEREBELLAR ATAXIA 171CTD_human