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Fusion Protein:ACTR3B-PARK7 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ACTR3B-PARK7 | FusionPDB ID: 1846 | FusionGDB2.0 ID: 1846 | Hgene | Tgene | Gene symbol | ACTR3B | PARK7 | Gene ID | 57180 | 11315 |
| Gene name | actin related protein 3B | Parkinsonism associated deglycase | |
| Synonyms | ARP11|ARP3BETA | DJ-1|DJ1|GATD2|HEL-S-67p | |
| Cytomap | 7q36.1-q36.2 | 1p36.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | actin-related protein 3BARP3 actin related protein 3 homolog BARP3-betaactin-like protein 3Bactin-related protein 3-betaactin-related protein ARP4actin-related protein Arp11 | protein/nucleic acid deglycase DJ-1Parkinson disease (autosomal recessive, early onset) 7epididymis secretory sperm binding protein Li 67pmaillard deglycaseoncogene DJ1parkinson protein 7protein DJ-1protein deglycase DJ-1 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q9P1U1 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000488782, ENST00000256001, ENST00000377776, ENST00000397282, ENST00000537264, | ENST00000338639, ENST00000377488, ENST00000377491, ENST00000377493, ENST00000493678, ENST00000497113, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 4 X 4=96 | 7 X 6 X 4=168 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ACTR3B [Title/Abstract] AND PARK7 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACTR3B(152497740)-PARK7(8030953), # 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 | PARK7 | GO:0006281 | DNA repair | 28596309 |
| Tgene | PARK7 | GO:0006517 | protein deglycosylation | 25416785 |
| Tgene | PARK7 | GO:0006517 | protein deglycosylation | 27903648 |
| Tgene | PARK7 | GO:0009438 | methylglyoxal metabolic process | 22523093 |
| Tgene | PARK7 | GO:0009438 | methylglyoxal metabolic process | 27903648 |
| Tgene | PARK7 | GO:0010629 | negative regulation of gene expression | 22683601 |
| Tgene | PARK7 | GO:0019249 | lactate biosynthetic process | 22523093 |
| Tgene | PARK7 | GO:0031334 | positive regulation of protein complex assembly | 24947010 |
| Tgene | PARK7 | GO:0031397 | negative regulation of protein ubiquitination | 17015834|24899725 |
| Tgene | PARK7 | GO:0032091 | negative regulation of protein binding | 11477070|16731528|17015834|24899725 |
| Tgene | PARK7 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 17015834 |
| Tgene | PARK7 | GO:0032757 | positive regulation of interleukin-8 production | 21097510 |
| Tgene | PARK7 | GO:0033234 | negative regulation of protein sumoylation | 16731528 |
| Tgene | PARK7 | GO:0034599 | cellular response to oxidative stress | 15983381|19703902|20969476|22683601 |
| Tgene | PARK7 | GO:0036471 | cellular response to glyoxal | 22523093 |
| Tgene | PARK7 | GO:0036526 | peptidyl-cysteine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036527 | peptidyl-arginine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036528 | peptidyl-lysine deglycation | 25416785 |
| Tgene | PARK7 | GO:0036529 | protein deglycation, glyoxal removal | 25416785 |
| Tgene | PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 25416785 |
| Tgene | PARK7 | GO:0036530 | protein deglycation, methylglyoxal removal | 27903648 |
| Tgene | PARK7 | GO:0036531 | glutathione deglycation | 25416785 |
| Tgene | PARK7 | GO:0042743 | hydrogen peroxide metabolic process | 20969476|24567322 |
| Tgene | PARK7 | GO:0043066 | negative regulation of apoptotic process | 22523093 |
| Tgene | PARK7 | GO:0043523 | regulation of neuron apoptotic process | 18711745|20304780 |
| Tgene | PARK7 | GO:0043524 | negative regulation of neuron apoptotic process | 22511790 |
| Tgene | PARK7 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21097510 |
| Tgene | PARK7 | GO:0046295 | glycolate biosynthetic process | 22523093 |
| Tgene | PARK7 | GO:0050821 | protein stabilization | 24947010 |
| Tgene | PARK7 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 24899725 |
| Tgene | PARK7 | GO:0060548 | negative regulation of cell death | 14749723 |
| Tgene | PARK7 | GO:0060765 | regulation of androgen receptor signaling pathway | 11477070 |
| Tgene | PARK7 | GO:0070301 | cellular response to hydrogen peroxide | 14749723 |
| Tgene | PARK7 | GO:0106044 | guanine deglycation | 28596309 |
| Tgene | PARK7 | GO:0106045 | guanine deglycation, methylglyoxal removal | 28596309 |
| Tgene | PARK7 | GO:0106046 | guanine deglycation, glyoxal removal | 28596309 |
| Tgene | PARK7 | GO:1900182 | positive regulation of protein localization to nucleus | 21097510 |
| Tgene | PARK7 | GO:1901215 | negative regulation of neuron death | 22683601 |
| Tgene | PARK7 | GO:1901671 | positive regulation of superoxide dismutase activity | 24567322 |
| Tgene | PARK7 | GO:1901984 | negative regulation of protein acetylation | 22683601 |
| Tgene | PARK7 | GO:1903094 | negative regulation of protein K48-linked deubiquitination | 21097510 |
| Tgene | PARK7 | GO:1903168 | positive regulation of pyrroline-5-carboxylate reductase activity | 23743200 |
| Tgene | PARK7 | GO:1903178 | positive regulation of tyrosine 3-monooxygenase activity | 19703902 |
| Tgene | PARK7 | GO:1903181 | positive regulation of dopamine biosynthetic process | 19703902 |
| Tgene | PARK7 | GO:1903189 | glyoxal metabolic process | 22523093 |
| Tgene | PARK7 | GO:1903200 | positive regulation of L-dopa decarboxylase activity | 19703902 |
| Tgene | PARK7 | GO:1903202 | negative regulation of oxidative stress-induced cell death | 16632486 |
| Tgene | PARK7 | GO:1903208 | negative regulation of hydrogen peroxide-induced neuron death | 15983381|24947010 |
| Tgene | PARK7 | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 15790595 |
| Tgene | PARK7 | GO:1905259 | negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway | 14752510 |
| Tgene | PARK7 | GO:2000157 | negative regulation of ubiquitin-specific protease activity | 21097510 |
| Fusion gene breakpoints across ACTR3B (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 PARK7 (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 | LGG | TCGA-DU-5855 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + |
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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) |
| ENST00000377776 | ACTR3B | chr7 | 152497740 | + | ENST00000338639 | PARK7 | chr1 | 8030953 | + | 902 | 359 | 47 | 676 | 209 |
| ENST00000377776 | ACTR3B | chr7 | 152497740 | + | ENST00000493678 | PARK7 | chr1 | 8030953 | + | 1128 | 359 | 47 | 676 | 209 |
| ENST00000377776 | ACTR3B | chr7 | 152497740 | + | ENST00000377493 | PARK7 | chr1 | 8030953 | + | 904 | 359 | 47 | 676 | 209 |
| ENST00000377776 | ACTR3B | chr7 | 152497740 | + | ENST00000377491 | PARK7 | chr1 | 8030953 | + | 873 | 359 | 47 | 676 | 209 |
| ENST00000377776 | ACTR3B | chr7 | 152497740 | + | ENST00000377488 | PARK7 | chr1 | 8030953 | + | 734 | 359 | 47 | 676 | 209 |
| ENST00000256001 | ACTR3B | chr7 | 152497740 | + | ENST00000338639 | PARK7 | chr1 | 8030953 | + | 902 | 359 | 47 | 676 | 209 |
| ENST00000256001 | ACTR3B | chr7 | 152497740 | + | ENST00000493678 | PARK7 | chr1 | 8030953 | + | 1128 | 359 | 47 | 676 | 209 |
| ENST00000256001 | ACTR3B | chr7 | 152497740 | + | ENST00000377493 | PARK7 | chr1 | 8030953 | + | 904 | 359 | 47 | 676 | 209 |
| ENST00000256001 | ACTR3B | chr7 | 152497740 | + | ENST00000377491 | PARK7 | chr1 | 8030953 | + | 873 | 359 | 47 | 676 | 209 |
| ENST00000256001 | ACTR3B | chr7 | 152497740 | + | ENST00000377488 | PARK7 | chr1 | 8030953 | + | 734 | 359 | 47 | 676 | 209 |
| 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 |
| ENST00000377776 | ENST00000338639 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003573067 | 0.9964269 |
| ENST00000377776 | ENST00000493678 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.002710406 | 0.99728966 |
| ENST00000377776 | ENST00000377493 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003576678 | 0.9964233 |
| ENST00000377776 | ENST00000377491 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003983377 | 0.99601656 |
| ENST00000377776 | ENST00000377488 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.00383853 | 0.99616146 |
| ENST00000256001 | ENST00000338639 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003573067 | 0.9964269 |
| ENST00000256001 | ENST00000493678 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.002710406 | 0.99728966 |
| ENST00000256001 | ENST00000377493 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003576678 | 0.9964233 |
| ENST00000256001 | ENST00000377491 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.003983377 | 0.99601656 |
| ENST00000256001 | ENST00000377488 | ACTR3B | chr7 | 152497740 | + | PARK7 | chr1 | 8030953 | + | 0.00383853 | 0.99616146 |
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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 >1846_1846_1_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000256001_PARK7_chr1_8030953_ENST00000338639_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_2_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000256001_PARK7_chr1_8030953_ENST00000377488_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_3_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000256001_PARK7_chr1_8030953_ENST00000377491_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_4_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000256001_PARK7_chr1_8030953_ENST00000377493_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_5_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000256001_PARK7_chr1_8030953_ENST00000493678_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_6_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000377776_PARK7_chr1_8030953_ENST00000338639_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_7_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000377776_PARK7_chr1_8030953_ENST00000377488_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_8_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000377776_PARK7_chr1_8030953_ENST00000377491_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_9_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000377776_PARK7_chr1_8030953_ENST00000377493_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- >1846_1846_10_ACTR3B-PARK7_ACTR3B_chr7_152497740_ENST00000377776_PARK7_chr1_8030953_ENST00000493678_length(amino acids)=209AA_BP=104 MRAGLAGGGADGDGALSGCRRGRAPRVPSMAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFF IGDEAIDKPTYATKSAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT -------------------------------------------------------------- |
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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/chr7:152497740/chr1:8030953) - 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 |
| ACTR3B | . |
| FUNCTION: Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. {ECO:0000269|PubMed:14651955}. | 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. |
| - 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 |
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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 |
| ACTR3B | |
| PARK7 |
| - 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 ACTR3B-PARK7 |
| 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 ACTR3B-PARK7 |
| 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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