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Fusion Protein:PPP4C-HSPD1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: PPP4C-HSPD1 | FusionPDB ID: 68173 | FusionGDB2.0 ID: 68173 | Hgene | Tgene | Gene symbol | PPP4C | HSPD1 | Gene ID | 5531 | 3329 |
| Gene name | protein phosphatase 4 catalytic subunit | heat shock protein family D (Hsp60) member 1 | |
| Synonyms | PP-X|PP4|PP4C|PPH3|PPP4|PPX | CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13 | |
| Cytomap | 16p11.2 | 2q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 4 catalytic subunitepididymis secretory sperm binding proteinprotein phosphatase 4 (formerly X), catalytic subunitprotein phosphatase X, catalytic subunit | 60 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 date | 20200320 | 20200315 | |
| UniProtAcc | . | P10809 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000279387, ENST00000561610, | ENST00000544407, ENST00000345042, ENST00000388968, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 5 X 3=105 | 14 X 10 X 6=840 |
| # samples | 7 | 16 | |
| ** MAII score | log2(7/105*10)=-0.584962500721156 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: PPP4C [Title/Abstract] AND HSPD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PPP4C(30092631)-HSPD1(198353971), # 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | HSPD1 | GO:0002368 | B cell cytokine production | 16148103 |
| Tgene | HSPD1 | GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | 16148103 |
| Tgene | HSPD1 | GO:0002842 | positive regulation of T cell mediated immune response to tumor cell | 10663613 |
| Tgene | HSPD1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17823127 |
| Tgene | HSPD1 | GO:0006986 | response to unfolded protein | 11050098 |
| Tgene | HSPD1 | GO:0032727 | positive regulation of interferon-alpha production | 17164250 |
| Tgene | HSPD1 | GO:0032729 | positive regulation of interferon-gamma production | 17164250 |
| Tgene | HSPD1 | GO:0032733 | positive regulation of interleukin-10 production | 16148103 |
| Tgene | HSPD1 | GO:0032735 | positive regulation of interleukin-12 production | 17164250 |
| Tgene | HSPD1 | GO:0032755 | positive regulation of interleukin-6 production | 16148103 |
| Tgene | HSPD1 | GO:0042026 | protein refolding | 11050098 |
| Tgene | HSPD1 | GO:0042100 | B cell proliferation | 16148103 |
| Tgene | HSPD1 | GO:0042110 | T cell activation | 15371451|17164250|18256040 |
| Tgene | HSPD1 | GO:0042113 | B cell activation | 16148103 |
| Tgene | HSPD1 | GO:0043032 | positive regulation of macrophage activation | 17164250 |
| Tgene | HSPD1 | GO:0044406 | adhesion of symbiont to host | 20633027 |
| Tgene | HSPD1 | GO:0048291 | isotype switching to IgG isotypes | 16148103 |
| Tgene | HSPD1 | GO:0050870 | positive regulation of T cell activation | 16148103|17164250 |
| Fusion gene breakpoints across PPP4C (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion 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. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-FP-8211-01A | PPP4C | chr16 | 30092631 | + | HSPD1 | chr2 | 198353971 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000279387 | PPP4C | chr16 | 30092631 | + | ENST00000388968 | HSPD1 | chr2 | 198353971 | - | 1536 | 318 | 168 | 1070 | 300 |
| ENST00000279387 | PPP4C | chr16 | 30092631 | + | ENST00000345042 | HSPD1 | chr2 | 198353971 | - | 1531 | 318 | 168 | 1070 | 300 |
| ENST00000561610 | PPP4C | chr16 | 30092631 | + | ENST00000388968 | HSPD1 | chr2 | 198353971 | - | 1521 | 303 | 153 | 1055 | 300 |
| ENST00000561610 | PPP4C | chr16 | 30092631 | + | ENST00000345042 | HSPD1 | chr2 | 198353971 | - | 1516 | 303 | 153 | 1055 | 300 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000279387 | ENST00000388968 | PPP4C | chr16 | 30092631 | + | HSPD1 | chr2 | 198353971 | - | 0.000316699 | 0.99968326 |
| ENST00000279387 | ENST00000345042 | PPP4C | chr16 | 30092631 | + | HSPD1 | chr2 | 198353971 | - | 0.000338979 | 0.99966097 |
| ENST00000561610 | ENST00000388968 | PPP4C | chr16 | 30092631 | + | HSPD1 | chr2 | 198353971 | - | 0.000283382 | 0.9997166 |
| ENST00000561610 | ENST00000345042 | PPP4C | chr16 | 30092631 | + | HSPD1 | chr2 | 198353971 | - | 0.000292687 | 0.9997073 |
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Fusion Amino Acid Sequences |
| 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 >68173_68173_1_PPP4C-HSPD1_PPP4C_chr16_30092631_ENST00000279387_HSPD1_chr2_198353971_ENST00000345042_length(amino acids)=300AA_BP=50 MAEISDLDRQIEQLRRCELIKESEVKALCAKAREILVEESNVQRVDSPVTVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGD KAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDS LTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAE -------------------------------------------------------------- >68173_68173_2_PPP4C-HSPD1_PPP4C_chr16_30092631_ENST00000279387_HSPD1_chr2_198353971_ENST00000388968_length(amino acids)=300AA_BP=50 MAEISDLDRQIEQLRRCELIKESEVKALCAKAREILVEESNVQRVDSPVTVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGD KAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDS LTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAE -------------------------------------------------------------- >68173_68173_3_PPP4C-HSPD1_PPP4C_chr16_30092631_ENST00000561610_HSPD1_chr2_198353971_ENST00000345042_length(amino acids)=300AA_BP=50 MAEISDLDRQIEQLRRCELIKESEVKALCAKAREILVEESNVQRVDSPVTVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGD KAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDS LTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAE -------------------------------------------------------------- >68173_68173_4_PPP4C-HSPD1_PPP4C_chr16_30092631_ENST00000561610_HSPD1_chr2_198353971_ENST00000388968_length(amino acids)=300AA_BP=50 MAEISDLDRQIEQLRRCELIKESEVKALCAKAREILVEESNVQRVDSPVTVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGD KAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDS LTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:30092631/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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | HSPD1 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | 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}. |
| Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - Not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | HSPD1 | chr16:30092631 | chr2:198353971 | ENST00000345042 | 7 | 12 | 111_115 | 323.0 | 574.0 | Nucleotide binding | ATP | |
| Tgene | HSPD1 | chr16:30092631 | chr2:198353971 | ENST00000388968 | 7 | 12 | 111_115 | 323.0 | 574.0 | Nucleotide binding | ATP |
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Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| PPP4C | |
| HSPD1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to PPP4C-HSPD1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to PPP4C-HSPD1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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