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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:PRPF8-ENY2 (FusionGDB2 ID:68637) |
Fusion Gene Summary for PRPF8-ENY2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRPF8-ENY2 | Fusion gene ID: 68637 | Hgene | Tgene | Gene symbol | PRPF8 | ENY2 | Gene ID | 10594 | 56943 |
| Gene name | pre-mRNA processing factor 8 | ENY2 transcription and export complex 2 subunit | |
| Synonyms | HPRP8|PRP8|PRPC8|RP13|SNRNP220 | DC6|Sus1|e(y)2 | |
| Cytomap | 17p13.3 | 8q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2 | transcription and mRNA export factor ENY2enhancer of yellow 2 homologenhancer of yellow 2 transcription factor homolog | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q9NPA8 | |
| Ensembl transtripts involved in fusion gene | ENST00000304992, ENST00000572621, ENST00000575116, | ENST00000521662, ENST00000521688, ENST00000520147, ENST00000522407, | |
| Fusion gene scores | * DoF score | 13 X 16 X 7=1456 | 3 X 2 X 3=18 |
| # samples | 16 | 3 | |
| ** MAII score | log2(16/1456*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PRPF8 [Title/Abstract] AND ENY2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PRPF8(1578445)-ENY2(110355633), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | PRPF8-ENY2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. PRPF8-ENY2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. PRPF8-ENY2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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 |
| Hgene | PRPF8 | GO:0000244 | spliceosomal tri-snRNP complex assembly | 20595234 |
| Hgene | PRPF8 | GO:0000398 | mRNA splicing, via spliceosome | 28781166|29301961 |
| Tgene | ENY2 | GO:0016578 | histone deubiquitination | 18206972 |
| Tgene | ENY2 | GO:0045893 | positive regulation of transcription, DNA-templated | 18206972 |
| Fusion gene breakpoints across PRPF8 (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 ENY2 (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 | ESCA | TCGA-LN-A49V | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
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Fusion Gene ORF analysis for PRPF8-ENY2 |
| 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 |
| Frame-shift | ENST00000304992 | ENST00000521662 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| In-frame | ENST00000304992 | ENST00000521688 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| 5CDS-3UTR | ENST00000304992 | ENST00000520147 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| 5CDS-3UTR | ENST00000304992 | ENST00000522407 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| In-frame | ENST00000572621 | ENST00000521662 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| Frame-shift | ENST00000572621 | ENST00000521688 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| 5CDS-3UTR | ENST00000572621 | ENST00000520147 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| 5CDS-3UTR | ENST00000572621 | ENST00000522407 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| intron-3CDS | ENST00000575116 | ENST00000521662 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| intron-3CDS | ENST00000575116 | ENST00000521688 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| intron-3UTR | ENST00000575116 | ENST00000520147 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| intron-3UTR | ENST00000575116 | ENST00000522407 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + |
| 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) |
| ENST00000304992 | PRPF8 | chr17 | 1578445 | - | ENST00000521688 | ENY2 | chr8 | 110355633 | + | 5722 | 3174 | 9 | 3194 | 1061 |
| ENST00000572621 | PRPF8 | chr17 | 1578445 | - | ENST00000521662 | ENY2 | chr8 | 110355633 | + | 3586 | 3326 | 266 | 3346 | 1026 |
| 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 |
| ENST00000304992 | ENST00000521688 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + | 0.000120281 | 0.9998797 |
| ENST00000572621 | ENST00000521662 | PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + | 0.000503234 | 0.9994967 |
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Fusion Genomic Features for PRPF8-ENY2 |
| 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) |
| PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + | 6.05E-10 | 1 |
| PRPF8 | chr17 | 1578445 | - | ENY2 | chr8 | 110355633 | + | 6.05E-10 | 1 |
| 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 PRPF8-ENY2 |
| Go to FGviewer for the breakpoints of chr17:1578445-chr8:110355633 - 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 |
| . | ENY2 |
| 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: Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation (PubMed:18206972, PubMed:21746879). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:23591820). {ECO:0000269|PubMed:18206972, ECO:0000269|PubMed:21746879, ECO:0000269|PubMed:23591820}. |
| 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 |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 2103_2234 | 1020.0 | 2336.0 | Domain | MPN |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 2103_2234 | 1020.0 | 2336.0 | Domain | MPN |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 1304_1577 | 1020.0 | 2336.0 | Region | Note=Linker |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 1513_1526 | 1020.0 | 2336.0 | Region | Important for branch point selection |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 1581_1752 | 1020.0 | 2336.0 | Region | Note=Restriction endonuclease homology domain |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 1767_2020 | 1020.0 | 2336.0 | Region | Note=RNase H homology domain |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000304992 | - | 20 | 43 | 812_1303 | 1020.0 | 2336.0 | Region | Note=Reverse transcriptase homology domain |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 1304_1577 | 1020.0 | 2336.0 | Region | Note=Linker |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 1513_1526 | 1020.0 | 2336.0 | Region | Important for branch point selection |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 1581_1752 | 1020.0 | 2336.0 | Region | Note=Restriction endonuclease homology domain |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 1767_2020 | 1020.0 | 2336.0 | Region | Note=RNase H homology domain |
| Hgene | PRPF8 | chr17:1578445 | chr8:110355633 | ENST00000572621 | - | 19 | 42 | 812_1303 | 1020.0 | 2336.0 | Region | Note=Reverse transcriptase homology domain |
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Fusion Gene Sequence for PRPF8-ENY2 |
| 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_ENST00000304992_ENST00000521688_TCGA-LN-A49V_PRPF8_chr17_1578445_-_ENY2_chr8_110355633_length(transcript)=5722nt_BP=3174nt GAACTCGGGTTGCGCACTTCCCGGCGCTGGGAACGCGGAGCGGACGCAGTCTGGCCGCCATTGCGCTGCGGGGAAAGCGGCCTCTTGTGT GAGGGCCTGTGGGATTCTCCGGATATGGCCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCGCTACCG GACTACATGTCGGAGGAGAAGCTGCAGGAGAAAGCTCGAAAATGGCAGCAATTGCAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGG TTTGTGGATGCCCAGAAGGAAGACATGCCCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAGTTCCGC CATGACAAAAGGGTTTACTTGGGTGCCCTAAAGTACATGCCCCACGCAGTCCTCAAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAG ATTCGGGATGTGCCTGTGCTGTACCACATCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTACATCTCC CAGTGGGGGTCAATGTGGATTATGATGCGCCGAGAAAAAAGAGATAGGAGGCATTTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAG GAGCCGCCCTTGGACTATGCTGACAACATCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGACGCCCCT GTGTTGGACTGGTTCTATGACCACCAGCCGTTGAGGGACAGCAGGAAGTATGTAAATGGCTCCACTTACCAGCGCTGGCAGTTCACACTA CCTATGATGTCGACTCTCTACCGCCTGGCTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTGAAGGCC TTCTTTACGTCCAAGGCACTCAATATGGCCATTCCTGGAGGCCCCAAATTTGAACCTCTTGTTCGAGACATCAACCTACAGGATGAAGAC TGGAATGAATTCAATGATATTAACAAGATTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTACAACAAT CTTCCACACCATGTCCACCTCACCTGGTACCATACTCCCAATGTTGTATTCATCAAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTT GACCCTTTGATCAACCCAATCTCCCATAGGCACTCAGTCAAGAGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTCCCGGAG TTTGTGGAGCCCTTCCTGAAGGACACACCCCTCTATACAGACAATACAGCCAATGGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAAC CTACGCTCTGGTCGCACCCGTCGGGCCCTGGACATACCCCTTGTCAAGAACTGGTATCGGGAGCATTGTCCTGCCGGGCAGCCTGTGAAA GTGAGGGTCTCCTACCAGAAGCTGCTTAAGTACTATGTGCTGAATGCCCTGAAGCATCGGCCCCCTAAGGCTCAAAAGAAGAGGTATTTG TTCCGCTCCTTCAAAGCCACCAAATTCTTTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGCTACAAC ATGCTCAACCTTCTCATTCACCGCAAAAACCTCAACTACCTGCACCTGGACTACAACTTCAACCTCAAGCCTGTGAAAACGCTCACCACC AAGGAAAGAAAGAAATCTCGTTTTGGGAATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGTCACGTG CAGTATCGGCTGGGCAATGTGGATGCCTTCCAGCTGGCAGATGGATTGCAGTATATATTTGCCCATGTTGGGCAGTTGACGGGCATGTAT CGATACAAATACAAGCTGATGCGACAGATTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACGGGCCCTGTAGGG AAGGGTCCTGGCTGTGGCTTCTGGGCTGCCGGTTGGCGAGTCTGGCTCTTTTTCATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTT GGCAACCTCCTGGCCCGGCAGTTTGAAGGTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACATTTTGAC CTTGAGCTGCGGGCAGCTGTGATGCATGATATTCTGGACATGATGCCTGAGGGGATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCAC CTCAGTGAAGCCTGGCGCTGCTGGAAAGCCAACATTCCCTGGAAGGTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTTCGATAC GTGAAGGCCAAGGCTGACTGGTGGACCAACACTGCCCACTACAACCGAGAACGGATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGT AAAAAGAATCTGGGCCGCCTCACCCGGCTCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAGGACGGGCCTTACATCACA GCGGAGGAAGCAGTGGCAGTATATACCACCACAGTGCATTGGTTGGAAAGCCGCAGGTTTTCACCCATCCCATTCCCCCCACTCTCCTAT AAGCATGACACCAAGTTGCTCATCTTGGCATTGGAGCGGCTCAAGGAAGCTTATAGTGTGAAGTCTCGGTTGAACCAGTCTCAGAGGGAG GAGCTAGGTCTGATCGAGCAGGCCTACGATAACCCCCACGAGGCGCTGTCCCGCATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAA GAGGTGGGCATTGAGTTCATGGATCTGTATAGCCACCTCGTTCCAGTATATGATGTTGAGCCCCTGGAGAAGATAACTGATGCTTACCTG GACCAGTACCTGTGGTATGAAGCCGACAAGCGCCGCCTGTTCCCACCCTGGATTAAGCCTGCAGACACAGAACCACCTCCGCTGCTTGTT TACAAGTGGTGTCAAGGCATCAATAACCTGCAGGACGTGTGGGAGACGAGTGAAGGCGAGTGCAATGTCATGCTGGAATCCCGCTTTGAG AAGATGTATGAGAAGATCGACTTGACTCTGCTCAACAGGCTGCTGCGCCTCATCGTGGACCACAACATAGCCGACTACATGACAGCCAAG AACAACGTCGTCATCAACTATAAGCCCTGGTACCTGACAGTGTAAAGAAGGAGCTCCTACAAAGAATAAGAACATTCCTTGCTCAGCATG CCAGCCTTTAAGATTGAATTAGATTGTGTTGTTGTGGTTTTATTTCTGAAAGTAAAACTTGCCATAAATTAGAAAACAATTTCCCAAAAT AAAATCCTTTTTTGTATGATGGTATACAGTTTTCAGTAATGATGTATACATTGTATTGATTTTTTTCCCTAAATGTGTTATTTTAATAAA TATCTCATGAATGAGTTTGAAGTTTGCTTGGATTTTGAAATGAATGGGACTTTGTCTTTATTACTAATTCACCAAATTTGTTGAGCGCAA AAGCAATTAATGTAGTTTAAGTATTTAGTATGTACAGTTCTCTGTGTTAACAGCTGAGAAGTAAGCAACCTTTTCTGACTGCATATGGTG TATTCCTCTTTTGAGTCCCCATAATATTTTATAAATTGTAATGCCCCATCTTGTACTACAGTTGTCTTATTCGTATTGTTTATAAACTTT GAGGGTTAGGACTGGGTCTTACTCATCTTTATGTGCCTTCCTTATGCTTCAAAGAATTTACCATCTAATGGAAGAGAACATTTGCAAGTT GGCTCCATACCAAGCTCCTTCCACATACTCTACTCATCTGAACTTTGAATGCAGAATCTTTAAATTGCAACCCCACATACTAAGGTCAAG AAAGAACTTAATGGGAATTAATCTCCACCCATTAGCTTTACCCTGACATCAGGATTGCCAAATCCAATGGACTCTTGTCTATTCTTACGT GACTTCTGCTGGAAAATGCGAATGTTGACCATCCTGCCACTTGGAACTCTCTTCCCACTCCTCACATTGCTTTTGCTACCACTGGAAGTT CCTTCTGTTTCTTGTGGAGTACCTTTTGCTGTCTGGGACTTGTAGATAATGGTGTTTCCTAGGGCTCCCTCCAGGGCCCTCTGCCTCACT AACTGGATATACTTTTCCTGAGCAAATCCCAGGAAACTTGCGTCAGACCGTGACTTCAAATACAGGTTGATAAATGCTAAACTGTCTCCA AACCAGACTTCATCCTAGCCTCCACACCCAGACACCCAACTGCTATGGATCAACTTTTTAGAATATCCTCACTTCAAACTGACCTTACCT AAAATAATGACTTTTTCCCCCAATAATTGCCCCTGCTATATTCCTTATTTCTGAATGGTACCTCCTAGCTATATAGATTATCTGAGGAGC TTACTGAAATGCTGATTCTGAAGATAAGGGGCATGGCTTTAAGATTCTGTATTTCTGGCGAGTACCCAACTGGTGCTCATGCTGCTGATT GAGAACCACTTCTGAATATAGCAAGGCTGTAAATTATCCACTACGTGCCCTCGTAATTGTCTTAGTTCAAGCCCAGATTATTGTAGTAGA CTTAGTATTTCTTTGCCTTAGTTGATCTGTGACCCCTCCAATATCTATTCCACACTGTTGCCTAAGTGGCCTTAGTAAAATTCAAGTCTG GTTATTTTATTCCCCTGCTTGGAATTTCTCAATGTAGAATGAAACTCATTCAGCATTAACACATAGGCCCTTCTTGATCTGACATCGTGT TTCTCTAGTTAGACTAAAGAATCCCCACTATGAAGTTGTTTCATCCGTAAGTACCTTTGAACCCAGAAGCCCCCTTTCTCATATGTTTCT CATTCCTGTTTGCCCTTCAGAGTTCAGCTTTAGTTGCTAAAACATTCAGACATCCCTCTGACTTAGATCCCCCACTACTGTTTTTCTGTG AGAAGCAGCTATGCATAATTCCTCTTCAACACAGTAGTTCTTGAAATTTTGCAGGCCTCTCCTGGAAAGGAGGAAATGACTTCTCTGACT TTGTATGATGCTTATTTGTGGATGAATGGGCAAGGGAAAAAATGAAGGAACAAGTGAATGAACAGTATGGGAGTATGAGAAAAGGTATAA ATTGGGTATAGTTGAGAAAAGGATTCAAATTGATCTTTGGTTCGAGAGACAATTTCATCTTTCTGATGAATTTAAAGTGTAGTCTTTGAA CCAGCTGGGCTTAATTATGTAAAGTTTTGAGCCTGAGATAAGCACACAATCACAAAACCTACCCAAACAAGTTTTTTGTTTCACTTCATC TCTTATAAAACAATGTTCTAAAGTAAGTGATAGGGATGCTCATCATTCTGCTACCTATTATCACAATGAAAACAATCATAAATAGTACAC AGGAAAGGTGAGAAATAGCGGATAGTTCTTATTTCATAGTACTGTATATGGAAATAAACCAAATTTGCTCATAGAGATACTATTTTATTA CCTCAAAAATATATAAAAATGAAAACGTTATGAAAATATTTTAAAATGGGATTTAAAAATAATTGAGAACATCACAGCAATTTAGAATAC TAAAGAGCATAGCTTTAAAATGATAGTGCTGAGAACTCCCCACCTCTACCCCACCACCTGTAGGCTTCTTTGACAACTTACAAATGTTCT >In-frame_ENST00000304992_ENST00000521688_TCGA-LN-A49V_PRPF8_chr17_1578445_-_ENY2_chr8_110355633_length(amino acids)=1061AA_start in transcript=9_stop in transcript=3194 MRTSRRWERGADAVWPPLRCGESGLLCEGLWDSPDMAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVD AQKEDMPPEHVRKIIRDHGDMTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLYHITGAISFVNEIPWVIEPVYISQWG SMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYADNILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTYQRWQFTLPMM STLYRLANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFEPLVRDINLQDEDWNEFNDINKIIIRQPIRTEYKIAFPYLYNNLPH HVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPISHRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRS GRTRRALDIPLVKNWYREHCPAGQPVKVRVSYQKLLKYYVLNALKHRPPKAQKKRYLFRSFKATKFFQSTKLDWVEVGLQVCRQGYNMLN LLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRFGNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYK YKLMRQIRMCKDLKHLIYYRFNTGPVGKGPGCGFWAAGWRVWLFFMRGITPLLERWLGNLLARQFEGRHSKGVAKTVTKQRVESHFDLEL RAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCWKANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKTVCKKN LGRLTRLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPIPFPPLSYKHDTKLLILALERLKEAYSVKSRLNQSQREELG LIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMDLYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKW -------------------------------------------------------------- >In-frame_ENST00000572621_ENST00000521662_TCGA-LN-A49V_PRPF8_chr17_1578445_-_ENY2_chr8_110355633_length(transcript)=3586nt_BP=3326nt GCAGTCTGGCCGCCATTGCGCTGCGGGGAAAGCGGCCTCTTGTGTGAGGGCCTGTGGGGTGCGTGGCAGGCGTTTAAGGCCGGGCTGCGG GAGGCGTGGTCGGGTCGGGCCGAGTGACCGAAGGGGTTAGGCCGGGCGGGGCTGGATGCACTGTGTGGCGGGACTGCAGGCCGGGGTCCC CGGACGCCTTTCTGCTGCGCTTCTTGTGGGCCCGGGCCTGTGGTTAGTGAATTTTTCTATCCCGCCGCTCCCCAGATTCTCCGGATATGG CCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCGCTACCGGACTACATGTCGGAGGAGAAGCTGCAGG AGAAAGCTCGAAAATGGCAGCAATTGCAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGGTTTGTGGATGCCCAGAAGGAAGACATGC CCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAGTTCCGCCATGACAAAAGGGTTTACTTGGGTGCCC TAAAGTACATGCCCCACGCAGTCCTCAAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAGATTCGGGATGTGCCTGTGCTGTACCACA TCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTACATCTCCCAGTGGGGGTCAATGTGGATTATGATGC GCCGAGAAAAAAGAGATAGGAGGCATTTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAGGAGCCGCCCTTGGACTATGCTGACAACA TCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGACGCCCCTGTGTTGGACTGGTTCTATGACCACCAGC CGTTGAGGGACAGCAGGAAGTATGTAAATGGCTCCACTTACCAGCGCTGGCAGTTCACACTACCTATGATGTCGACTCTCTACCGCCTGG CTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTGAAGGCCTTCTTTACGTCCAAGGCACTCAATATGG CCATTCCTGGAGGCCCCAAATTTGAACCTCTTGTTCGAGACATCAACCTACAGGATGAAGACTGGAATGAATTCAATGATATTAACAAGA TTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTACAACAATCTTCCACACCATGTCCACCTCACCTGGT ACCATACTCCCAATGTTGTATTCATCAAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTTGACCCTTTGATCAACCCAATCTCCCATA GGCACTCAGTCAAGAGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTCCCGGAGTTTGTGGAGCCCTTCCTGAAGGACACAC CCCTCTATACAGACAATACAGCCAATGGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAACCTACGCTCTGGTCGCACCCGTCGGGCCC TGGACATACCCCTTGTCAAGAACTGGTATCGGGAGCATTGTCCTGCCGGGCAGCCTGTGAAAGTGAGGGTCTCCTACCAGAAGCTGCTTA AGTACTATGTGCTGAATGCCCTGAAGCATCGGCCCCCTAAGGCTCAAAAGAAGAGGTATTTGTTCCGCTCCTTCAAAGCCACCAAATTCT TTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGCTACAACATGCTCAACCTTCTCATTCACCGCAAAA ACCTCAACTACCTGCACCTGGACTACAACTTCAACCTCAAGCCTGTGAAAACGCTCACCACCAAGGAAAGAAAGAAATCTCGTTTTGGGA ATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGTCACGTGCAGTATCGGCTGGGCAATGTGGATGCCT TCCAGCTGGCAGATGGATTGCAGTATATATTTGCCCATGTTGGGCAGTTGACGGGCATGTATCGATACAAATACAAGCTGATGCGACAGA TTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACGGGCCCTGTAGGGAAGGGTCCTGGCTGTGGCTTCTGGGCTG CCGGTTGGCGAGTCTGGCTCTTTTTCATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTTGGCAACCTCCTGGCCCGGCAGTTTGAAG GTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACATTTTGACCTTGAGCTGCGGGCAGCTGTGATGCATG ATATTCTGGACATGATGCCTGAGGGGATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCACCTCAGTGAAGCCTGGCGCTGCTGGAAAG CCAACATTCCCTGGAAGGTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTTCGATACGTGAAGGCCAAGGCTGACTGGTGGACCA ACACTGCCCACTACAACCGAGAACGGATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGTAAAAAGAATCTGGGCCGCCTCACCCGGC TCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAGGACGGGCCTTACATCACAGCGGAGGAAGCAGTGGCAGTATATACCA CCACAGTGCATTGGTTGGAAAGCCGCAGGTTTTCACCCATCCCATTCCCCCCACTCTCCTATAAGCATGACACCAAGTTGCTCATCTTGG CATTGGAGCGGCTCAAGGAAGCTTATAGTGTGAAGTCTCGGTTGAACCAGTCTCAGAGGGAGGAGCTAGGTCTGATCGAGCAGGCCTACG ATAACCCCCACGAGGCGCTGTCCCGCATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAAGAGGTGGGCATTGAGTTCATGGATCTGT ATAGCCACCTCGTTCCAGTATATGATGTTGAGCCCCTGGAGAAGATAACTGATGCTTACCTGGACCAGTACCTGTGGTATGAAGCCGACA AGCGCCGCCTGTTCCCACCCTGGATTAAGCCTGCAGACACAGAACCACCTCCGCTGCTTGTTTACAAGTGGTGTCAAGGCATCAATAACC TGCAGGACGTGTGGGAGACGAGTGAAGGCGAGTGCAATGTCATGCTGGAATCCCGCTTTGAGAAGATGTATGAGAAGATCGACTTGACTC TGCTCAACAGGCTGCTGCGCCTCATCGTGGACCACAACATAGCCGACTACATGACAGCCAAGAACAACGTCGTCATCAACTATAAGCCCT GGTACCTGACAGTGTAAAGAAGGAGCTCCTACAAAGAATAAGAACATTCCTTGCTCAGCATGCCAGCCTTTAAGATTGAATTAGATTGTG TTGTTGTGGTTTTATTTCTGAAAGTAAAACTTGCCATAAATTAGAAAACAATTTCCCAAAATAAAATCCTTTTTTGTATGATGGTATACA >In-frame_ENST00000572621_ENST00000521662_TCGA-LN-A49V_PRPF8_chr17_1578445_-_ENY2_chr8_110355633_length(amino acids)=1026AA_start in transcript=266_stop in transcript=3346 MAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVDAQKEDMPPEHVRKIIRDHGDMTNRKFRHDKRVYLG ALKYMPHAVLKLLENMPMPWEQIRDVPVLYHITGAISFVNEIPWVIEPVYISQWGSMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYAD NILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTYQRWQFTLPMMSTLYRLANQLLTDLVDDNYFYLFDLKAFFTSKALN MAIPGGPKFEPLVRDINLQDEDWNEFNDINKIIIRQPIRTEYKIAFPYLYNNLPHHVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPIS HRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRSGRTRRALDIPLVKNWYREHCPAGQPVKVRVSYQKL LKYYVLNALKHRPPKAQKKRYLFRSFKATKFFQSTKLDWVEVGLQVCRQGYNMLNLLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRF GNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYKYKLMRQIRMCKDLKHLIYYRFNTGPVGKGPGCGFW AAGWRVWLFFMRGITPLLERWLGNLLARQFEGRHSKGVAKTVTKQRVESHFDLELRAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCW KANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKTVCKKNLGRLTRLYLKAEQERQHNYLKDGPYITAEEAVAVY TTTVHWLESRRFSPIPFPPLSYKHDTKLLILALERLKEAYSVKSRLNQSQREELGLIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMD LYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKWCQGINNLQDVWETSEGECNVMLESRFEKMYEKIDL -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PRPF8-ENY2 |
| 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 PRPF8-ENY2 |
| 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 |
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Related Diseases for PRPF8-ENY2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRPF8 | C1838702 | Retinitis Pigmentosa 13 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | PRPF8 | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | PRPF8 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Hgene | PRPF8 | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human |
| Hgene | PRPF8 | C4505456 | HIV Coinfection | 1 | CTD_human |
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