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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CCNT1-HSPD1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CCNT1-HSPD1
FusionPDB ID: 14191
FusionGDB2.0 ID: 14191
HgeneTgene
Gene symbol

CCNT1

HSPD1

Gene ID

904

3329

Gene namecyclin T1heat shock protein family D (Hsp60) member 1
SynonymsCCNT|CYCT1|HIVE1CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13
Cytomap

12q13.11-q13.12

2q33.1

Type of geneprotein-codingprotein-coding
Descriptioncyclin-T1CDK9-associated C-type proteinMLLT10/CCNT1 fusioncyclin C-related proteinhuman immunodeficiency virus type 1 (HIV-1) expression (elevated) 160 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 date2020031320200315
UniProtAcc

O60563

P10809

Ensembl transtripts involved in fusion geneENST idsENST00000261900, ENST00000544407, 
ENST00000345042, ENST00000388968, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 8 X 4=19214 X 10 X 6=840
# samples 716
** MAII scorelog2(7/192*10)=-1.45567948377619
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 (manual curation of fusion genes in FusionPDB)

PubMed: CCNT1 [Title/Abstract] AND HSPD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CCNT1(49099550)-HSPD1(198353971), # samples:1
Anticipated loss of major functional domain due to fusion event.CCNT1-HSPD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CCNT1-HSPD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneCCNT1

GO:0045944

positive regulation of transcription by RNA polymerase II

15563843

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 CCNT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-IN-A7NTCCNT1chr12

49099550

-HSPD1chr2

198353971

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000261900CCNT1chr1249099550-ENST00000388968HSPD1chr2198353971-18135952231347374
ENST00000261900CCNT1chr1249099550-ENST00000345042HSPD1chr2198353971-18085952231347374

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
ENST00000261900ENST00000388968CCNT1chr1249099550-HSPD1chr2198353971-0.0007114890.99928844
ENST00000261900ENST00000345042CCNT1chr1249099550-HSPD1chr2198353971-0.0007432950.9992567

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>14191_14191_1_CCNT1-HSPD1_CCNT1_chr12_49099550_ENST00000261900_HSPD1_chr2_198353971_ENST00000345042_length(amino acids)=374AA_BP=124
MEGERKNNNKRWYFTREQLENSPSRRFGVDPDKELSYRQQAANLLQDMGQRLNVSQLTINTAIVYMHRFYMIQSFTQFPGNSVAPAALFL
AAKVEEQPKKLEHVIKVAHTCLHPQESLPDTRSEVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLD
VTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIK
RTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMG

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>14191_14191_2_CCNT1-HSPD1_CCNT1_chr12_49099550_ENST00000261900_HSPD1_chr2_198353971_ENST00000388968_length(amino acids)=374AA_BP=124
MEGERKNNNKRWYFTREQLENSPSRRFGVDPDKELSYRQQAANLLQDMGQRLNVSQLTINTAIVYMHRFYMIQSFTQFPGNSVAPAALFL
AAKVEEQPKKLEHVIKVAHTCLHPQESLPDTRSEVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLD
VTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIK
RTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMG

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Fusion Protein Functional Features


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/chr12:49099550/chr2:198353971)
- 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
CCNT1

O60563

HSPD1

P10809

FUNCTION: Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II). {ECO:0000269|PubMed:16109376, ECO:0000269|PubMed:16109377}.; FUNCTION: (Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes. {ECO:0000269|PubMed:10329125, ECO:0000269|PubMed:10329126}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCNT1chr12:49099550chr2:198353971ENST00000261900-39384_425124.0727.0Coiled coilOntology_term=ECO:0000255
HgeneCCNT1chr12:49099550chr2:198353971ENST00000261900-39506_530124.0727.0Compositional biasNote=His-rich
HgeneCCNT1chr12:49099550chr2:198353971ENST00000261900-39548_629124.0727.0Compositional biasNote=Ser-rich
HgeneCCNT1chr12:49099550chr2:198353971ENST00000261900-39708_725124.0727.0Compositional biasNote=Pro-rich
TgeneHSPD1chr12:49099550chr2:198353971ENST00000345042712111_115323.0574.0Nucleotide bindingATP
TgeneHSPD1chr12:49099550chr2:198353971ENST00000388968712111_115323.0574.0Nucleotide bindingATP


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CCNT1
HSPD1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CCNT1-HSPD1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CCNT1-HSPD1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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