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Fusion gene ID: 31023 |
FusionGeneSummary for RFC2_HSP90AA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFC2_HSP90AA1 | Fusion gene ID: 31023 | Hgene | Tgene | Gene symbol | RFC2 | HSP90AA1 | Gene ID | 5982 | 3320 |
| Gene name | replication factor C subunit 2 | heat shock protein 90 alpha family class A member 1 | |
| Synonyms | RFC40 | EL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2 | |
| Cytomap | 7q11.23 | 14q32.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | replication factor C subunit 2A1 40 kDa subunitRF-C 40 kDa subunitactivator 1 subunit 2replication factor C (activator 1) 2, 40kDa | 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 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P35250 | P07900 | |
| Ensembl transtripts involved in fusion gene | ENST00000352131, ENST00000055077, | ENST00000216281, ENST00000334701, ENST00000441629, ENST00000558600, | |
| Fusion gene scores | * DoF score | 3 X 4 X 1=12 | 18 X 19 X 6=2052 |
| # samples | 4 | 23 | |
| ** MAII score | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(23/2052*10)=-3.15732496466268 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RFC2 [Title/Abstract] AND HSP90AA1 [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) |
| 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 | RFC2 | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity | 12930902 |
| Tgene | HSP90AA1 | GO:0001934 | positive regulation of protein phosphorylation | 19363271 |
| Tgene | HSP90AA1 | GO:0007004 | telomere maintenance via telomerase | 10197982 |
| Tgene | HSP90AA1 | GO:0031396 | regulation of protein ubiquitination | 16809764 |
| Tgene | HSP90AA1 | GO:0032273 | positive regulation of protein polymerization | 19363271 |
| Tgene | HSP90AA1 | GO:0045040 | protein import into mitochondrial outer membrane | 15644312 |
| Tgene | HSP90AA1 | GO:0051131 | chaperone-mediated protein complex assembly | 15644312 |
| Tgene | HSP90AA1 | GO:0051973 | positive regulation of telomerase activity | 10197982 |
| Tgene | HSP90AA1 | GO:1902949 | positive regulation of tau-protein kinase activity | 19363271 |
| Tgene | HSP90AA1 | GO:1905323 | telomerase holoenzyme complex assembly | 10197982 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | CV353071 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000352131 | ENST00000216281 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-3CDS | ENST00000352131 | ENST00000334701 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-3CDS | ENST00000352131 | ENST00000441629 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-intron | ENST00000352131 | ENST00000558600 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-3CDS | ENST00000055077 | ENST00000216281 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-3CDS | ENST00000055077 | ENST00000334701 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-3CDS | ENST00000055077 | ENST00000441629 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
| intron-intron | ENST00000055077 | ENST00000558600 | RFC2 | chr7 | 73652566 | - | HSP90AA1 | chr14 | 102551034 | + |
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FusionProtFeatures for RFC2_HSP90AA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFC2 | HSP90AA1 |
| The elongation of primed DNA templates by DNA polymerasedelta and epsilon requires the action of the accessory proteinsproliferating cell nuclear antigen (PCNA) and activator 1. Thissubunit binds ATP (By similarity). {ECO:0000250}. | Molecular chaperone that promotes the maturation,structural maintenance and proper regulation of specific targetproteins involved for instance in cell cycle control and signaltransduction. Undergoes a functional cycle that is linked to itsATPase activity which is essential for its chaperone activity.This cycle probably induces conformational changes in the clientproteins, thereby causing their activation. Interacts dynamicallywith various co-chaperones that modulate its substraterecognition, ATPase cycle and chaperone function (PubMed:11274138,PubMed:15577939, PubMed:15937123, PubMed:27353360,PubMed:29127155). Engages with a range of client protein classesvia its interaction with various co-chaperone proteins orcomplexes, that act as adapters, simultaneously able to interactwith the specific client and the central chaperone itself(PubMed:29127155). Recruitment of ATP and co-chaperone followed byclient protein forms a functional chaperone. After the completionof the chaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformationand finally, ADP is released from HSP90 which acquires an openconformation for the next cycle (PubMed:27295069,PubMed:26991466). Apart from its chaperone activity, it also playsa role in the regulation of the transcription machinery. HSP90 andits co-chaperones modulate transcription at least at threedifferent levels (PubMed:25973397). In the first place, they alterthe steady-state levels of certain transcription factors inresponse to various physiological cues(PubMed:25973397). Second,they modulate the activity of certain epigenetic modifiers, suchas histone deacetylases or DNA methyl transferases, and therebyrespond to the change in the environment (PubMed:25973397). Third,they participate in the eviction of histones from the promoterregion of certain genes and thereby turn on gene expression(PubMed:25973397). Binds bacterial lipopolysaccharide (LPS) andmediates LPS-induced inflammatory response, including TNFsecretion by monocytes (PubMed:11276205). Antagonizes STUB1-mediated inhibition of TGF-beta signaling via inhibition of STUB1-mediated SMAD3 ubiquitination and degradation (PubMed:24613385).{ECO:0000269|PubMed:11274138, ECO:0000269|PubMed:11276205,ECO:0000269|PubMed:15577939, ECO:0000269|PubMed:15937123,ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:27353360,ECO:0000269|PubMed:29127155, ECO:0000303|PubMed:25973397,ECO:0000303|PubMed:26991466, ECO:0000303|PubMed:27295069}. |
| 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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FusionGeneSequence for RFC2_HSP90AA1 |
| 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 RFC2_HSP90AA1 |
| 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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RelatedDrugs for RFC2_HSP90AA1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | HSP90AA1 | P07900 | DB00615 | Rifabutin | Heat shock protein HSP 90-alpha | small molecule | approved|investigational |
| Tgene | HSP90AA1 | P07900 | DB00716 | Nedocromil | Heat shock protein HSP 90-alpha | small molecule | approved|investigational |
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RelatedDiseases for RFC2_HSP90AA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HSP90AA1 | C0009178 | Cocaine withdrawal | 1 | PSYGENET |
| Tgene | HSP90AA1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | HSP90AA1 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | HSP90AA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | HSP90AA1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | HSP90AA1 | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | 1 | CTD_human |
| Tgene | HSP90AA1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | HSP90AA1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | HSP90AA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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