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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:HSP90AA1-PCDHB5 (FusionGDB2 ID:37605) |
Fusion Gene Summary for HSP90AA1-PCDHB5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSP90AA1-PCDHB5 | Fusion gene ID: 37605 | Hgene | Tgene | Gene symbol | HSP90AA1 | PCDHB5 | Gene ID | 3320 | 26167 |
| Gene name | heat shock protein 90 alpha family class A member 1 | protocadherin beta 5 | |
| Synonyms | EL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2 | PCDH-BETA5 | |
| Cytomap | 14q32.31 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heat shock protein HSP 90-alphaHSP 86LPS-associated protein 2epididymis luminal secretory protein 52epididymis secretory sperm binding protein Li 65pheat shock 86 kDaheat shock 90kD protein 1, alphaheat shock 90kD protein 1, alpha-like 4heat shock | protocadherin beta-5PCDH-beta-5 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P07900 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000216281, ENST00000334701, ENST00000441629, ENST00000558600, | ENST00000231134, | |
| Fusion gene scores | * DoF score | 38 X 40 X 8=12160 | 1 X 1 X 1=1 |
| # samples | 43 | 1 | |
| ** MAII score | log2(43/12160*10)=-4.82166275874149 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: HSP90AA1 [Title/Abstract] AND PCDHB5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HSP90AA1(102551303)-PCDHB5(140517319), # 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 |
| Hgene | HSP90AA1 | GO:0001934 | positive regulation of protein phosphorylation | 19363271 |
| Hgene | HSP90AA1 | GO:0007004 | telomere maintenance via telomerase | 10197982 |
| Hgene | HSP90AA1 | GO:0031396 | regulation of protein ubiquitination | 16809764 |
| Hgene | HSP90AA1 | GO:0032273 | positive regulation of protein polymerization | 19363271 |
| Hgene | HSP90AA1 | GO:0045040 | protein import into mitochondrial outer membrane | 15644312 |
| Hgene | HSP90AA1 | GO:0051131 | chaperone-mediated protein complex assembly | 15644312 |
| Hgene | HSP90AA1 | GO:0051973 | positive regulation of telomerase activity | 10197982 |
| Hgene | HSP90AA1 | GO:1902949 | positive regulation of tau-protein kinase activity | 19363271 |
| Hgene | HSP90AA1 | GO:1905323 | telomerase holoenzyme complex assembly | 10197982 |
| Fusion gene breakpoints across HSP90AA1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across PCDHB5 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 |
| ChiTaRS5.0 | N/A | CN256724 | HSP90AA1 | chr14 | 102551303 | - | PCDHB5 | chr5 | 140517319 | + |
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Fusion Gene ORF analysis for HSP90AA1-PCDHB5 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000216281 | ENST00000231134 | HSP90AA1 | chr14 | 102551303 | - | PCDHB5 | chr5 | 140517319 | + |
| intron-3CDS | ENST00000334701 | ENST00000231134 | HSP90AA1 | chr14 | 102551303 | - | PCDHB5 | chr5 | 140517319 | + |
| intron-3CDS | ENST00000441629 | ENST00000231134 | HSP90AA1 | chr14 | 102551303 | - | PCDHB5 | chr5 | 140517319 | + |
| intron-3CDS | ENST00000558600 | ENST00000231134 | HSP90AA1 | chr14 | 102551303 | - | PCDHB5 | chr5 | 140517319 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for HSP90AA1-PCDHB5 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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 HSP90AA1-PCDHB5 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HSP90AA1 | . |
| FUNCTION: Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function (PubMed:11274138, PubMed:15577939, PubMed:15937123, PubMed:27353360, PubMed:29127155, PubMed:12526792). Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself (PubMed:29127155). Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. After the completion of the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformation and finally, ADP is released from HSP90 which acquires an open conformation for the next cycle (PubMed:27295069, PubMed:26991466). Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70 (PubMed:12526792). Apart from its chaperone activity, it also plays a role in the regulation of the transcription machinery. HSP90 and its co-chaperones modulate transcription at least at three different levels (PubMed:25973397). In the first place, they alter the steady-state levels of certain transcription factors in response to various physiological cues(PubMed:25973397). Second, they modulate the activity of certain epigenetic modifiers, such as histone deacetylases or DNA methyl transferases, and thereby respond to the change in the environment (PubMed:25973397). Third, they participate in the eviction of histones from the promoter region of certain genes and thereby turn on gene expression (PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385). Mediates the association of TOMM70 with IRF3 or TBK1 in mitochodria outer membrane which promotes host antiviral response (PubMed:20628368, PubMed:25609812). {ECO:0000269|PubMed:11274138, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:12526792, ECO:0000269|PubMed:15577939, ECO:0000269|PubMed:15937123, ECO:0000269|PubMed:20628368, ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:25609812, ECO:0000269|PubMed:27353360, ECO:0000269|PubMed:29127155, ECO:0000303|PubMed:25973397, ECO:0000303|PubMed:26991466, ECO:0000303|PubMed:27295069}. | 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. |
| 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. |
| - In-frame and 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 |
| - In-frame and 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 |
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Fusion Gene Sequence for HSP90AA1-PCDHB5 |
| 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 HSP90AA1-PCDHB5 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for HSP90AA1-PCDHB5 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | HSP90AA1 | P07900 | DB00615 | Rifabutin | Other/unknown | Small molecule | Approved|Investigational |
| Hgene | HSP90AA1 | P07900 | DB00615 | Rifabutin | Other/unknown | Small molecule | Approved|Investigational |
| Hgene | HSP90AA1 | P07900 | DB00615 | Rifabutin | Other/unknown | Small molecule | Approved|Investigational |
| Hgene | HSP90AA1 | P07900 | DB00615 | Rifabutin | Other/unknown | Small molecule | Approved|Investigational |
| Hgene | HSP90AA1 | P07900 | DB00716 | Nedocromil | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB00716 | Nedocromil | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB00716 | Nedocromil | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB00716 | Nedocromil | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | HSP90AA1 | P07900 | DB09130 | Copper | Small molecule | Approved|Investigational |
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Related Diseases for HSP90AA1-PCDHB5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HSP90AA1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Hgene | HSP90AA1 | C0009178 | Cocaine withdrawal | 1 | PSYGENET |
| Hgene | HSP90AA1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Hgene | HSP90AA1 | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | HSP90AA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | HSP90AA1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | HSP90AA1 | C0162351 | Contact hypersensitivity | 1 | CTD_human |
| Hgene | HSP90AA1 | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | 1 | CTD_human |
| Hgene | HSP90AA1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Hgene | HSP90AA1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Hgene | HSP90AA1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Hgene | HSP90AA1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | HSP90AA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | HSP90AA1 | C4505456 | HIV Coinfection | 1 | CTD_human |
| Hgene | HSP90AA1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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