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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:HIPK1-HSPA4 (FusionGDB2 ID:36395)

Fusion Gene Summary for HIPK1-HSPA4

check button Fusion gene summary
Fusion gene informationFusion gene name: HIPK1-HSPA4
Fusion gene ID: 36395
HgeneTgene
Gene symbol

HIPK1

HSPA4

Gene ID

204851

3308

Gene namehomeodomain interacting protein kinase 1heat shock protein family A (Hsp70) member 4
SynonymsMyak|Nbak2APG-2|HEL-S-5a|HS24/P52|HSPH2|RY|hsp70|hsp70RY
Cytomap

1p13.2

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionhomeodomain-interacting protein kinase 1homeodomain interacting protein kinase 1-like proteinnuclear body associated kinase 2bnuclear body-associated kinase 2heat shock 70 kDa protein 4epididymis secretory sperm binding protein Li 5aheat shock 70-related protein APG-2heat shock 70kD protein 4heat shock 70kDa protein 4heat shock protein, 110 kDahsp70 RY
Modification date2020031320200327
UniProtAcc

Q86Z02

O95757

Ensembl transtripts involved in fusion geneENST00000340480, ENST00000369553, 
ENST00000369554, ENST00000369555, 
ENST00000369558, ENST00000369559, 
ENST00000369561, ENST00000406344, 
ENST00000426820, 
ENST00000504328, 
ENST00000304858, 
Fusion gene scores* DoF score3 X 3 X 2=1810 X 11 X 4=440
# samples 312
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/440*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HIPK1 [Title/Abstract] AND HSPA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHIPK1(114511270)-HSPA4(132403109), # samples:1
Anticipated loss of major functional domain due to fusion event.HIPK1-HSPA4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HIPK1-HSPA4 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
HIPK1-HSPA4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneHIPK1

GO:0006468

protein phosphorylation

24559171

HgeneHIPK1

GO:0010803

regulation of tumor necrosis factor-mediated signaling pathway

15701637

HgeneHIPK1

GO:0072577

endothelial cell apoptotic process

15701637

HgeneHIPK1

GO:0097191

extrinsic apoptotic signaling pathway

15701637

TgeneHSPA4

GO:0045040

protein import into mitochondrial outer membrane

15644312

TgeneHSPA4

GO:0051131

chaperone-mediated protein complex assembly

15644312


check buttonFusion gene breakpoints across HIPK1 (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 HSPA4 (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
ChimerDB4STADTCGA-BR-8058-01AHIPK1chr1

114511270

+HSPA4chr5

132403109

+


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Fusion Gene ORF analysis for HIPK1-HSPA4

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
5CDS-intronENST00000340480ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369553ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369554ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369555ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369558ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369559ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000369561ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000406344ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
5CDS-intronENST00000426820ENST00000504328HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000340480ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369553ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369554ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369555ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369558ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369559ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000369561ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000406344ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+
Frame-shiftENST00000426820ENST00000304858HIPK1chr1

114511270

+HSPA4chr5

132403109

+

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 HIPK1-HSPA4


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)
HIPK1chr1114511270+HSPA4chr5132403108+0.0006260840.999374
HIPK1chr1114511270+HSPA4chr5132403108+0.0006260840.999374

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.
genomic feature of top 1%

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Fusion Protein Features for HIPK1-HSPA4


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/:114511270/:132403109)
- 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
HIPK1

Q86Z02

HSPA4

O95757

FUNCTION: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:24559171). {ECO:0000269|PubMed:12702766, ECO:0000269|PubMed:12968034, ECO:0000269|PubMed:15701637, ECO:0000269|PubMed:16390825, ECO:0000269|PubMed:19646965, ECO:0000269|PubMed:24559171}.FUNCTION: Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase. {ECO:0000250}.

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 HIPK1-HSPA4


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 HIPK1-HSPA4


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 HIPK1-HSPA4


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 HIPK1-HSPA4


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