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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:PRPF4B-DSP (FusionGDB2 ID:68622) |
Fusion Gene Summary for PRPF4B-DSP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRPF4B-DSP | Fusion gene ID: 68622 | Hgene | Tgene | Gene symbol | PRPF4B | DSP | Gene ID | 8899 | 1834 |
| Gene name | pre-mRNA processing factor 4B | dentin sialophosphoprotein | |
| Synonyms | PR4H|PRP4|PRP4H|PRP4K|dJ1013A10.1 | DFNA39|DGI1|DMP3|DPP|DSP | |
| Cytomap | 6p25.2 | 4q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase PRP4 homologPRP4 kinasePRP4 pre-mRNA processing factor 4 homolog BPRP4 pre-mRNA-processing factor 4 homologdJ1013A10.1 (PRP4 protein kinase homolog)protein-serine/threonine kinase | dentin sialophosphoproteindeafness, autosomal dominant 39dentin phosphophoryndentin phosphoproteindentin phosphoryndentin sialoprotein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | P15924 | |
| Ensembl transtripts involved in fusion gene | ENST00000494674, ENST00000337659, ENST00000538861, | ENST00000379802, ENST00000418664, | |
| Fusion gene scores | * DoF score | 7 X 4 X 8=224 | 22 X 19 X 10=4180 |
| # samples | 10 | 26 | |
| ** MAII score | log2(10/224*10)=-1.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/4180*10)=-4.00691941393979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PRPF4B [Title/Abstract] AND DSP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PRPF4B(4021700)-DSP(7582874), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | PRPF4B-DSP seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. PRPF4B-DSP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. PRPF4B-DSP seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PRPF4B-DSP seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. | ||
| * 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 |
| Fusion gene breakpoints across PRPF4B (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 DSP (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 |
| ChimerDB4 | OV | TCGA-24-1416 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
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Fusion Gene ORF analysis for PRPF4B-DSP |
| 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 | ENST00000494674 | ENST00000379802 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| intron-3CDS | ENST00000494674 | ENST00000418664 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| Frame-shift | ENST00000337659 | ENST00000379802 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| In-frame | ENST00000337659 | ENST00000418664 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| intron-3CDS | ENST00000538861 | ENST00000379802 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| intron-3CDS | ENST00000538861 | ENST00000418664 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + |
| 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) |
| ENST00000337659 | PRPF4B | chr6 | 4021700 | + | ENST00000418664 | DSP | chr6 | 7582874 | + | 4072 | 141 | 207 | 3377 | 1056 |
| 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 |
| ENST00000337659 | ENST00000418664 | PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + | 0.00176368 | 0.9982363 |
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Fusion Genomic Features for PRPF4B-DSP |
| 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) |
| PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + | 1.52E-07 | 0.9999999 |
| PRPF4B | chr6 | 4021700 | + | DSP | chr6 | 7582874 | + | 1.52E-07 | 0.9999999 |
| 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 PRPF4B-DSP |
| Go to FGviewer for the breakpoints of chr6:4021700-chr6:7582874 - 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 |
| . | DSP |
| 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: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes. |
| 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 |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1946_2871 | 1793.0 | 2872.0 | Region | Note=Globular 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1960_2208 | 1793.0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2244_2446 | 1793.0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2609_2822 | 1793.0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2824_2847 | 1793.0 | 2872.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1946_2871 | 1194.0 | 2273.0 | Region | Note=Globular 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1960_2208 | 1194.0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2244_2446 | 1194.0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2609_2822 | 1194.0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2824_2847 | 1194.0 | 2273.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2009_2045 | 1793.0 | 2872.0 | Repeat | Note=Plectin 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2046_2083 | 1793.0 | 2872.0 | Repeat | Note=Plectin 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2084_2121 | 1793.0 | 2872.0 | Repeat | Note=Plectin 3 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2122_2159 | 1793.0 | 2872.0 | Repeat | Note=Plectin 4 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2163_2197 | 1793.0 | 2872.0 | Repeat | Note=Plectin 5 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2198_2233 | 1793.0 | 2872.0 | Repeat | Note=Plectin 6 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2251_2288 | 1793.0 | 2872.0 | Repeat | Note=Plectin 7 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2289_2326 | 1793.0 | 2872.0 | Repeat | Note=Plectin 8 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2327_2364 | 1793.0 | 2872.0 | Repeat | Note=Plectin 9 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2365_2402 | 1793.0 | 2872.0 | Repeat | Note=Plectin 10 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2406_2440 | 1793.0 | 2872.0 | Repeat | Note=Plectin 11 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2456_2493 | 1793.0 | 2872.0 | Repeat | Note=Plectin 12 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2507_2544 | 1793.0 | 2872.0 | Repeat | Note=Plectin 13 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2610_2647 | 1793.0 | 2872.0 | Repeat | Note=Plectin 14 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2648_2685 | 1793.0 | 2872.0 | Repeat | Note=Plectin 15 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2724_2761 | 1793.0 | 2872.0 | Repeat | Note=Plectin 16 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 2762_2799 | 1793.0 | 2872.0 | Repeat | Note=Plectin 17 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2009_2045 | 1194.0 | 2273.0 | Repeat | Note=Plectin 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2046_2083 | 1194.0 | 2273.0 | Repeat | Note=Plectin 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2084_2121 | 1194.0 | 2273.0 | Repeat | Note=Plectin 3 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2122_2159 | 1194.0 | 2273.0 | Repeat | Note=Plectin 4 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2163_2197 | 1194.0 | 2273.0 | Repeat | Note=Plectin 5 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2198_2233 | 1194.0 | 2273.0 | Repeat | Note=Plectin 6 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2251_2288 | 1194.0 | 2273.0 | Repeat | Note=Plectin 7 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2289_2326 | 1194.0 | 2273.0 | Repeat | Note=Plectin 8 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2327_2364 | 1194.0 | 2273.0 | Repeat | Note=Plectin 9 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2365_2402 | 1194.0 | 2273.0 | Repeat | Note=Plectin 10 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2406_2440 | 1194.0 | 2273.0 | Repeat | Note=Plectin 11 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2456_2493 | 1194.0 | 2273.0 | Repeat | Note=Plectin 12 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2507_2544 | 1194.0 | 2273.0 | Repeat | Note=Plectin 13 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2610_2647 | 1194.0 | 2273.0 | Repeat | Note=Plectin 14 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2648_2685 | 1194.0 | 2273.0 | Repeat | Note=Plectin 15 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2724_2761 | 1194.0 | 2273.0 | Repeat | Note=Plectin 16 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 2762_2799 | 1194.0 | 2273.0 | Repeat | Note=Plectin 17 |
| - 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 |
| Hgene | PRPF4B | chr6:4021700 | chr6:7582874 | ENST00000337659 | + | 1 | 15 | 39_496 | 13.666666666666666 | 1008.0 | Compositional bias | Note=Arg/Lys-rich (basic) |
| Hgene | PRPF4B | chr6:4021700 | chr6:7582874 | ENST00000337659 | + | 1 | 15 | 40_78 | 13.666666666666666 | 1008.0 | Compositional bias | Note=His-rich |
| Hgene | PRPF4B | chr6:4021700 | chr6:7582874 | ENST00000337659 | + | 1 | 15 | 687_1006 | 13.666666666666666 | 1008.0 | Domain | Protein kinase |
| Hgene | PRPF4B | chr6:4021700 | chr6:7582874 | ENST00000337659 | + | 1 | 15 | 693_701 | 13.666666666666666 | 1008.0 | Nucleotide binding | ATP |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1018_1945 | 1793.0 | 2872.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1018_1945 | 1194.0 | 2273.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 458_515 | 1793.0 | 2872.0 | Domain | SH3 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 458_515 | 1194.0 | 2273.0 | Domain | SH3 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1057_1945 | 1793.0 | 2872.0 | Region | Note=Central fibrous rod domain | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1_1056 | 1793.0 | 2872.0 | Region | Note=Globular 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1057_1945 | 1194.0 | 2273.0 | Region | Note=Central fibrous rod domain | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1_1056 | 1194.0 | 2273.0 | Region | Note=Globular 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 178_271 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 272_375 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 376_446 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 3a | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 516_545 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 3b | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 546_627 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 4 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 654_769 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 5 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 770_883 | 1793.0 | 2872.0 | Repeat | Note=Spectrin 6 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 178_271 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 1 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 272_375 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 2 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 376_446 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 3a | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 516_545 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 3b | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 546_627 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 4 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 654_769 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 5 | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 770_883 | 1194.0 | 2273.0 | Repeat | Note=Spectrin 6 |
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Fusion Gene Sequence for PRPF4B-DSP |
| 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. |
| >In-frame_ENST00000337659_ENST00000418664_TCGA-24-1416_PRPF4B_chr6_4021700_+_DSP_chr6_7582874_length(transcript)=4072nt_BP=141nt GGCACATGCGCGGCAGCTCTTTTCCTTCTTCCTCCACTTCCCCTACCCTCCACCGTCCGGGAGCCGCCGCCACCGCCGCCGAGGAGTCAG GAAGTTCAAGATGGCCGCCGCGGAGACCCAGTCGCTACGGGAGCAGCCAGAGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACT CAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTG AATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAG TGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGG AGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCA CAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAG TGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATC GACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGA TCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTC ATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGAC CTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCT GTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGAC CCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGA GATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACT GGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGT ATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGT TCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGT ACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTAC AAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAAC ATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGG ATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCA GATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGAT GAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTG GTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTG TGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGT CAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAA TTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGA CATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCG AGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACG GGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCC CAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAG ATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTT GTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGAC ACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGAT ATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGC TCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCT TCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATA TGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCC ATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTG AAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATT TTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATAT TTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGT CTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGC GGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTG >In-frame_ENST00000337659_ENST00000418664_TCGA-24-1416_PRPF4B_chr6_4021700_+_DSP_chr6_7582874_length(amino acids)=1056AA_start in transcript=207_stop in transcript=3377 MVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAE IKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLL KGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQ IYAAEKAITGFDDPFSGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDP VTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYN ETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMN KELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLP LKEKKKQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAID KGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDT ENLEKISITEGIERGIVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKE KWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PRPF4B-DSP |
| 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 |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000379802 | 22 | 24 | 1_584 | 1793.0 | 2872.0 | plakophilin 1 and junction plakoglobin | |
| Tgene | DSP | chr6:4021700 | chr6:7582874 | ENST00000418664 | 22 | 24 | 1_584 | 1194.0 | 2273.0 | plakophilin 1 and junction plakoglobin |
| - 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 PRPF4B-DSP |
| 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 |
| Tgene | DSP | P15924 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Tgene | DSP | P15924 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
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Related Diseases for PRPF4B-DSP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | DSP | C1864826 | Epidermolysis bullosa, lethal acantholytic | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | DSP | C1852127 | KERATOSIS PALMOPLANTARIS STRIATA II | 5 | CTD_human;GENOMICS_ENGLAND |
| Tgene | DSP | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
| Tgene | DSP | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Tgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human |
| Tgene | DSP | C0085786 | Hamman-Rich syndrome | 1 | ORPHANET |
| Tgene | DSP | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human |
| Tgene | DSP | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human |
| Tgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Tgene | DSP | C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome | 1 | ORPHANET |
| Tgene | DSP | C4707237 | Striate palmoplantar keratoderma | 1 | ORPHANET |
| Tgene | DSP | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
| Tgene | DSP | C4721508 | Hamman-Rich Disease | 1 | CTD_human |
| Tgene | DSP | C4721509 | Usual Interstitial Pneumonia | 1 | CTD_human |
| Tgene | DSP | C4721952 | Familial Idiopathic Pulmonary Fibrosis | 1 | CTD_human |
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