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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:MARVELD2-PIK3R1 (FusionGDB2 ID:51804) |
Fusion Gene Summary for MARVELD2-PIK3R1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MARVELD2-PIK3R1 | Fusion gene ID: 51804 | Hgene | Tgene | Gene symbol | MARVELD2 | PIK3R1 | Gene ID | 153562 | 5295 |
| Gene name | MARVEL domain containing 2 | phosphoinositide-3-kinase regulatory subunit 1 | |
| Synonyms | DFNB49|MARVD2|MRVLDC2|Tric | AGM7|GRB1|IMD36|p85|p85-ALPHA | |
| Cytomap | 5q13.2 | 5q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MARVEL domain-containing protein 2MARVEL (membrane-associating) domain containing 2tricellulin | phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q8N4S9 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000325631, ENST00000413223, | ENST00000274335, ENST00000320694, ENST00000336483, ENST00000396611, ENST00000517643, ENST00000523872, ENST00000521381, ENST00000521657, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 9 X 9 X 4=324 |
| # samples | 5 | 9 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MARVELD2 [Title/Abstract] AND PIK3R1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MARVELD2(68720463)-PIK3R1(67589537), # samples:2 | ||
| 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 | PIK3R1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 |
| Tgene | PIK3R1 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 |
| Tgene | PIK3R1 | GO:0042307 | positive regulation of protein import into nucleus | 20348923 |
| Tgene | PIK3R1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 |
| Tgene | PIK3R1 | GO:0050821 | protein stabilization | 20348923 |
| Tgene | PIK3R1 | GO:0060396 | growth hormone receptor signaling pathway | 7782332 |
| Fusion gene breakpoints across MARVELD2 (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 PIK3R1 (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 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 | UCEC | TCGA-AP-A5FX-01A | MARVELD2 | chr5 | 68720463 | - | PIK3R1 | chr5 | 67589537 | + |
| ChimerDB4 | UCEC | TCGA-AP-A5FX-01A | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
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Fusion Gene ORF analysis for MARVELD2-PIK3R1 |
| 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 |
| 5CDS-intron | ENST00000325631 | ENST00000274335 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000320694 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000336483 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000396611 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000517643 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000523872 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000274335 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000320694 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000336483 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000396611 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000517643 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000523872 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000325631 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000325631 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000413223 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000413223 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 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) |
| ENST00000325631 | MARVELD2 | chr5 | 68720463 | + | ENST00000521381 | PIK3R1 | chr5 | 67589537 | + | 6352 | 1256 | 74 | 2131 | 685 |
| ENST00000325631 | MARVELD2 | chr5 | 68720463 | + | ENST00000521657 | PIK3R1 | chr5 | 67589537 | + | 3284 | 1256 | 74 | 2131 | 685 |
| ENST00000413223 | MARVELD2 | chr5 | 68720463 | + | ENST00000521381 | PIK3R1 | chr5 | 67589537 | + | 5948 | 852 | 18 | 1727 | 569 |
| ENST00000413223 | MARVELD2 | chr5 | 68720463 | + | ENST00000521657 | PIK3R1 | chr5 | 67589537 | + | 2880 | 852 | 18 | 1727 | 569 |
| 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 |
| ENST00000325631 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + | 0.000157544 | 0.9998424 |
| ENST00000325631 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + | 0.000405381 | 0.9995946 |
| ENST00000413223 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + | 0.000126844 | 0.99987316 |
| ENST00000413223 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + | 0.000474829 | 0.9995252 |
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Fusion Genomic Features for MARVELD2-PIK3R1 |
| 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. |
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| 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 MARVELD2-PIK3R1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:68720463/chr5:67589537) - 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 |
| MARVELD2 | . |
| FUNCTION: Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). {ECO:0000250|UniProtKB:Q3UZP0, ECO:0000269|PubMed:17186462}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 45_52 | 394 | 559.0 | Compositional bias | Note=Poly-Pro |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 188_367 | 394 | 559.0 | Domain | MARVEL |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 1_194 | 394 | 559.0 | Topological domain | Cytoplasmic |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 216_223 | 394 | 559.0 | Topological domain | Extracellular |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 245_254 | 394 | 559.0 | Topological domain | Cytoplasmic |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 276_291 | 394 | 559.0 | Topological domain | Extracellular |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 313_319 | 394 | 559.0 | Topological domain | Cytoplasmic |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 338_341 | 394 | 559.0 | Topological domain | Extracellular |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 195_215 | 394 | 559.0 | Transmembrane | Helical |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 224_244 | 394 | 559.0 | Transmembrane | Helical |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 255_275 | 394 | 559.0 | Transmembrane | Helical |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 292_312 | 394 | 559.0 | Transmembrane | Helical |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 320_337 | 394 | 559.0 | Transmembrane | Helical |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 342_362 | 394 | 559.0 | Transmembrane | Helical |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 624_718 | 433 | 725.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 333_428 | 133 | 425.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 624_718 | 133 | 425.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 333_428 | 163 | 455.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 624_718 | 163 | 455.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 624_718 | 433 | 733.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 624_718 | 433 | 725.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 624_718 | 433 | 725.0 | Domain | SH2 2 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 113_301 | 70 | 362.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 333_428 | 70 | 362.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 624_718 | 70 | 362.0 | Domain | SH2 2 |
| - 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 | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 439_548 | 394 | 559.0 | Coiled coil | Ontology_term=ECO:0000269 |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 514_517 | 394 | 559.0 | Compositional bias | Note=Poly-Lys |
| Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 363_558 | 394 | 559.0 | Topological domain | Cytoplasmic |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 113_301 | 433 | 725.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 333_428 | 433 | 725.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 3_79 | 433 | 725.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 113_301 | 133 | 425.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 3_79 | 133 | 425.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 113_301 | 163 | 455.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 3_79 | 163 | 455.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 113_301 | 433 | 733.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 333_428 | 433 | 733.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 3_79 | 433 | 733.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 113_301 | 433 | 725.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 333_428 | 433 | 725.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 3_79 | 433 | 725.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 113_301 | 433 | 725.0 | Domain | Rho-GAP | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 333_428 | 433 | 725.0 | Domain | SH2 1 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 3_79 | 433 | 725.0 | Domain | SH3 | |
| Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 3_79 | 70 | 362.0 | Domain | SH3 |
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Fusion Gene Sequence for MARVELD2-PIK3R1 |
| 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. |
| >51804_51804_1_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000325631_PIK3R1_chr5_67589537_ENST00000521381_length(transcript)=6352nt_BP=1256nt GCCCGATACCGGTTTCAGAGTCCTGGGCAGCGTGCGCGCTCTTCCTGGCGGCTGCGCAGGTGTGAAAATCACAAATGTCAAATGATGGAA GATCCAGGAATCGGGACAGGCGCTACGATGAGGTCCCAAGCGACCTGCCCTATCAAGATACCACCATAAGAACCCACCCAACTCTTCATG ACAGTGAGCGGGCAGTGAGCGCTGATCCCTTGCCACCACCCCCTCTCCCATTACAGCCACCATTCGGCCCAGACTTCTACTCAAGTGACA CAGAAGAACCAGCTATAGCGCCAGATCTCAAACCAGTAAGGCGCTTTGTCCCTGACTCCTGGAAGAACTTTTTCAGAGGGAAGAAAAAGG ACCCCGAATGGGATAAGCCGGTGTCTGATATCAGGTACATCTCCGATGGAGTGGAGTGTTCACCACCAGCCTCTCCAGCAAGACCAAACC ACCGTTCGCCCCTCAACTCCTGCAAAGATCCCTACGGAGGGTCAGAAGGAACCTTTAGTTCCCGGAAAGAGGCTGACGCAGTGTTTCCCC GGGATCCCTATGGATCTCTAGACCGACACACACAAACAGTTCGAACATACAGTGAGAAGGTGGAGGAGTATAACCTGAGATACTCCTACA TGAAGTCGTGGGCAGGCCTGCTGAGAATACTGGGTGTGGTGGAGCTGCTTTTGGGGGCCGGTGTCTTTGCTTGTGTCACAGCTTACATTC ACAAGGACAGTGAGTGGTACAACTTGTTTGGATATTCACAACCGTATGGCATGGGAGGCGTTGGTGGATTGGGCAGTATGTATGGGGGCT ATTACTACACTGGCCCTAAGACCCCTTTTGTACTCGTGGTTGCTGGATTAGCTTGGATCACCACCATTATTATTCTGGTTCTTGGCATGT CCATGTATTACCGGACCATTCTTCTGGACTCTAATTGGTGGCCCCTAACTGAATTTGGAATTAACGTTGCCTTGTTTATTTTGTATATGG CCGCAGCCATAGTCTATGTGAATGATACCAACCGAGGTGGCCTCTGCTACTATCCGTTATTTAATACACCAGTGAATGCAGTGTTCTGCC GGGTAGAAGGAGGACAGATAGCTGCAATGATCTTCCTGTTTGTCACCATGATAGTTTATCTCATTAGTGCTTTGGTTTGCCTAAAGTTAT GGAGGCATGAGGCAGCTCGGAGACATAGAGAATATATGGAACAACAGGAGATAAATGAGCCATCATTGTCATCGAAAAGGAAAATGGATC AAGTTGTCAAAGAAGATAATATTGAAGCTGTAGGGAAAAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA GATTATATGAAGAATATACCCGCACATCCCAGGAAATCCAAATGAAAAGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTG AAGAACAGTGCCAGACCCAAGAGCGGTACAGCAAAGAATACATAGAAAAGTTTAAACGTGAAGGCAATGAGAAAGAAATACAAAGGATTA TGCATAATTATGATAAGTTGAAGTCTCGAATCAGTGAAATTATTGACAGTAGAAGAAGATTGGAAGAAGACTTGAAGAAGCAGGCAGCTG AGTATCGAGAAATTGACAAACGTATGAACAGCATTAAACCAGACCTTATCCAGCTGAGAAAGACGAGAGACCAATACTTGATGTGGTTGA CTCAAAAAGGTGTTCGGCAAAAGAAGTTGAACGAGTGGTTGGGCAATGAAAACACTGAAGACCAATATTCACTGGTGGAAGATGATGAAG ATTTGCCCCATCATGATGAGAAGACATGGAATGTTGGAAGCAGCAACCGAAACAAAGCTGAAAACCTGTTGCGAGGGAAGCGAGATGGCA CTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCTGCTCTGTAGTGGTGGACGGCGAAGTAAAGCATTGTGTCATAAACAAAA CAGCAACTGGCTATGGCTTTGCCGAGCCCTATAACTTGTACAGCTCTCTGAAAGAACTGGTGCTACATTACCAACACACCTCCCTTGTGC AGCACAACGACTCCCTCAATGTCACACTAGCCTACCCAGTATATGCACAGCAGAGGCGATGAAGCGCTTACTCTTTGATCCTTCTCCTGA AGTTCAGCCACCCTGAGGCCTCTGGAAAGCAAAGGGCTCCTCTCCAGTCTGATCTGTGAATTGAGCTGCAGAAACGAAGCCATCTTTCTT TGGATGGGACTAGAGCTTTCTTTCACAAAAAAGAAGTAGGGGAAGACATGCAGCCTAAGGCTGTATGATGACCACACGTTCCTAAGCTGG AGTGCTTATCCCTTCTTTTTCTTTTTTTCTTTGGTTTAATTTAAAGCCACAACCACATACAACACAAAGAGAAAAAGAAATGCAAAAATC TCTGCGTGCAGGGACAAAGAGGCCTTTAACCATGGTGCTTGTTAATGCTTTCTGAAGCTTTACCAGCTGAAAGTTGGGACTCTGGAGAGC GGAGGAGAGAGAGGCAGAAGAACCCTGGCCTGAGAAGGTTTGGTCCAGCCTGGTTTAGCCTGGATGTTGCTGTGCACGGTGGACCCAGAC ACATCGCACTGTGGATTATTTCATTTTGTAACAAATGAACGATATGTAGCAGAAAGGCACGTCCACTCACAAGGGACGCTTTGGGAGAAT GTCAGTTCATGTATGTTCAGAAGAAATTCTGTCATAGAAAGTGCCAGAAAGTGTTTAACTTGTCAAAAAACAAAAACCCAGCAACAGAAA AATGGAGTTTGGAAAACAGGACTTAAAATGACATTCAGTATATAAAATATGTACATAATATTGGATGACTAACTATCAAATAGATGGATT TGTATCAATACCAAATAGCTTCTGTTTTGTTTTGCTGAAGGCTAAATTCACAGCGCTATGCAATTCTTAATTTTCATTAAGTTGTTATTT CAGTTTTAAATGTACCTTCAGAATAAGCTTCCCCACCCCAGTTTTTGTTGCTTGAAAATATTGTTGTCCCGGATTTTTGTTAATATTCAT TTTTGTTATCCTTTTTTAAAAGTAAATGTACAGGATGCCAGTAAAAAAAAAAAATGGCTTCAGAATTAAAACTATGAAATATTTTACAGT TTTTCTTGTACAGAGTACTTGGCTGTTAGCCCAAGGTTAAAAAGTTCATAACAGATTTTTTTTGGACTGTTTTGTTGGGCAGTGCCTGAT AAGCTTCAAAGCTGCTTTATTCAATAAAAAAAAGAAATGAAAAAGATATATGAATATGACAAAGTATTGCTGAGTCCAACAATGTTGTTT TAAGACTCTTAAAATACGGTACCTGGCAATGTTTATTTCATAAAGAATTGTGAACTTCTTGAATCTAGGGAGGGGGAATGTAGTGAAGGG ATGTATCAAGTGGGGTGGTGGGAGGGGGAGGCAAGGTTATATGCACTTTCTCATGATTTACAGAGAAGTGAATAACTGCAAAGTGAAGTT GCTTCTTCTACTTCAGTCTTCTCTCACTTTGATTTGCTAGTTGTTATCAATTAATGACAATTACAAACCTACTGTATCTCTAATACAGTG TGACTGGTCAGGTATTTCAGTTCTTAGGAAGGAAGTGCCAAGTTTGTTTTTGGGTTCCTGGAACAGCGCTCACCTTTGTTTAGAACACTG GTTTAAAGGGATAATCATCTCTGTCACATTAGACTATCCATCATGACCAGCAAATACTCATTTTAGGAAAAAAAAAAGCATGATCTGAAA AATACTTTTGGTGGTATGTTGGTTACCCTCCTAGCTTTCCATTTGGTTTAGAACATAAAGCAAATAGACACAGTCATACTGTCACTGCTC TGGACTGTGTGGAGCTCGCTAAAGTCATGGTCATTGCAGGAATCCAAGTGGCAGTCCTTCTCATTCATTCTAATCATTGTATGTGCTTCA CTACGGGGGGGAGAAGGAAACGTTAGCATCATGTTTCCCATTTAGGGCAGGAGTGAGAGGTCTCTCTTCCTGATTTAGATATGCAAAAGC TGGTATGTTCAGTAGGAACTGTACATGTGTTGGGAGGCATAAAGACTAATTAGCAACCATAATATGGTCACTACCCTAATAGACTAAATG AAATCTTGCAATTTCAAATTACTCTTTCTCCATATTAGATTTACCCACAGCTATATTTCTGTTTAAGTACTAGGGTGAGGGTTTTCTGTT ACTTTGTTTTTTAATGTTGTTCCTTTTGAAAGAATCAGTCTTGCAGCTGAGTGAAAAATCTGTGGAATGTATTATTTGTCCTCTTTACAT GAAACTACTCATACTTAAGCAAAAGTCAGTCTTATAGCAAGACTGTTAGCCCTCAAACTTGACTCTACTGATCTGACCATTTCCCTCTCA TCGCCAGACAACTGACGATTTCCCTGGTTTTAGTCTGCGTCTCTGCTTTAAAGTTATTGTGATATCCTTCTAGATCATACACAAGTCTAA CAGTTAATTAGTTAACAGTTTTTAAACTAGGTTTGTGGGTATTTTTTTGGTAGCACATGTATGCTATTACATACAAATTTTTATTTCTAA AATATAAGATCTGAGATTGAATATTTTCATTAAAAGCTACAGTTTTGTGAATCTTTGTGCTTCAACATTCTTTGCAAGATGATACGGTAT TTAGGCATTTGCCTTATTTTTGCATCTCACAAACATAAGTGCAATAGATCTTTTCATTGAACAGCAAAGTAGGATTCATCATTCCATATG ACTTGAGTTACACCAGACCTGTTCTGCCCAATGCCTTTTTGATTACAGTGTAGCTTGCCCACCGCATTTGTCGTTTTAGATACTTTGCTA GCCGGCCACTTTGGATTTCATCAGACAGTCCTAACAATATTGTCTGAACGGCTGAATATGAATAGATACAGCAGAGGCACTCCTGATATA TGATTTTTATCCATGCGTCAGTTTTTCCCACCCAGTGTAGCATCCTAAAGATAAAGCCAGAAGCTAAGCTGCAGTGAGGCTGTGATTGGG CGTAGAAGTGGGAGCATTGGGACCTCACATTACACACACGAGAGATCATAACCATGTGAAAAGGCAAAAAGCATGTGTTTGCAACATCTG ATAACTTCATGGCCTTTGATAAATGTATATATGTATATGTGCATGGACTGTGTTTCCAGTACACCTTTCAGCCAAAACAGATCCACAGTA GTTGTTGAGTTCAAGTACATAAAGTACATAACAAGCGAACGTCTAGTACAATTCTTACTTATGTGTATGGGATTTTTCCCTTTGAGGTTG CTTTGTTTTGTCTTACAAAGGTGAAAATTGTTTGTAAGTGAAGTGAGAAGTTCATATTTCTTTGGCTTTTTTGTGTTTTTAAAAGTTACT CCTTTTAGGGAGCTGGTCTGATGACTTGCTTAGCTTGGAAATCCTTGTTTTCAGTGTGTCGAGTCAAAATGTGTTTATGTGAGCTGTCAC TGTGGGGAACCAATTGCTTTGTCATATAGCTGGTTATGAACTAGTAACATGTTTGGGAAGTCCTACTGATGTTCCTTTGGAAGAAAAAAT CTGCTGGTTTTAACAACTGTGCTTTTGCTATGTATGGTATCCAAGTTAGTTGAAACGCAGACACTGAGATCTGTTTGAGTTTAGGGTCAT TTTTAGAAAGGGGCAGTTTAAAGCACAATGTCTCACATGGGACAAAGTTCCAAAATGCCAAATTCTTATTTTTTAAAAAGCTAGTTCTAT AAAATACTGGTATTATGGGTGGGGAGGAAATAGAATTGAGTCAATTGGAAAGACTATCCAACTTAACATGAAACTTGTCACCATGAGATA GCATTAGCTGCCCAGGATGCTGCTATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATAT ATATATATATATATATATATATATGTGTGTGTATATATATATATATGTGTATATATATATGTATATACATATATGTATATATATGCACAT ATATATATGTATTTAAAAAAATCAAAACAAAAAAAAACTCATTTATACCTGTGTATTTTTTAAAGCTACAATCTGTTCAATGTTTTTAAA AATCTGTTTATATGACATTGTTAAAATAAAGTTGGTCTTTTGACGAGAGGGAGGATGTCACGGTCAGTTGTAACTTTGCCTTCACAAGGC AACTGGGGTGGGGGGTGGGGGTAGTGTGCCTCCTTGACATTTCGTTCAAGTTATAGATTCAATGGAGCTATGTCTTGTTTTAAGTTGCTT >51804_51804_1_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000325631_PIK3R1_chr5_67589537_ENST00000521381_length(amino acids)=685AA_BP=394 MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFF RGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIII LVLGMSMYYRTILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFVTMIVYLISAL VCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNE TIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQ YLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKH -------------------------------------------------------------- >51804_51804_2_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000325631_PIK3R1_chr5_67589537_ENST00000521657_length(transcript)=3284nt_BP=1256nt GCCCGATACCGGTTTCAGAGTCCTGGGCAGCGTGCGCGCTCTTCCTGGCGGCTGCGCAGGTGTGAAAATCACAAATGTCAAATGATGGAA GATCCAGGAATCGGGACAGGCGCTACGATGAGGTCCCAAGCGACCTGCCCTATCAAGATACCACCATAAGAACCCACCCAACTCTTCATG ACAGTGAGCGGGCAGTGAGCGCTGATCCCTTGCCACCACCCCCTCTCCCATTACAGCCACCATTCGGCCCAGACTTCTACTCAAGTGACA CAGAAGAACCAGCTATAGCGCCAGATCTCAAACCAGTAAGGCGCTTTGTCCCTGACTCCTGGAAGAACTTTTTCAGAGGGAAGAAAAAGG ACCCCGAATGGGATAAGCCGGTGTCTGATATCAGGTACATCTCCGATGGAGTGGAGTGTTCACCACCAGCCTCTCCAGCAAGACCAAACC ACCGTTCGCCCCTCAACTCCTGCAAAGATCCCTACGGAGGGTCAGAAGGAACCTTTAGTTCCCGGAAAGAGGCTGACGCAGTGTTTCCCC GGGATCCCTATGGATCTCTAGACCGACACACACAAACAGTTCGAACATACAGTGAGAAGGTGGAGGAGTATAACCTGAGATACTCCTACA TGAAGTCGTGGGCAGGCCTGCTGAGAATACTGGGTGTGGTGGAGCTGCTTTTGGGGGCCGGTGTCTTTGCTTGTGTCACAGCTTACATTC ACAAGGACAGTGAGTGGTACAACTTGTTTGGATATTCACAACCGTATGGCATGGGAGGCGTTGGTGGATTGGGCAGTATGTATGGGGGCT ATTACTACACTGGCCCTAAGACCCCTTTTGTACTCGTGGTTGCTGGATTAGCTTGGATCACCACCATTATTATTCTGGTTCTTGGCATGT CCATGTATTACCGGACCATTCTTCTGGACTCTAATTGGTGGCCCCTAACTGAATTTGGAATTAACGTTGCCTTGTTTATTTTGTATATGG CCGCAGCCATAGTCTATGTGAATGATACCAACCGAGGTGGCCTCTGCTACTATCCGTTATTTAATACACCAGTGAATGCAGTGTTCTGCC GGGTAGAAGGAGGACAGATAGCTGCAATGATCTTCCTGTTTGTCACCATGATAGTTTATCTCATTAGTGCTTTGGTTTGCCTAAAGTTAT GGAGGCATGAGGCAGCTCGGAGACATAGAGAATATATGGAACAACAGGAGATAAATGAGCCATCATTGTCATCGAAAAGGAAAATGGATC AAGTTGTCAAAGAAGATAATATTGAAGCTGTAGGGAAAAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA GATTATATGAAGAATATACCCGCACATCCCAGGAAATCCAAATGAAAAGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTG AAGAACAGTGCCAGACCCAAGAGCGGTACAGCAAAGAATACATAGAAAAGTTTAAACGTGAAGGCAATGAGAAAGAAATACAAAGGATTA TGCATAATTATGATAAGTTGAAGTCTCGAATCAGTGAAATTATTGACAGTAGAAGAAGATTGGAAGAAGACTTGAAGAAGCAGGCAGCTG AGTATCGAGAAATTGACAAACGTATGAACAGCATTAAACCAGACCTTATCCAGCTGAGAAAGACGAGAGACCAATACTTGATGTGGTTGA CTCAAAAAGGTGTTCGGCAAAAGAAGTTGAACGAGTGGTTGGGCAATGAAAACACTGAAGACCAATATTCACTGGTGGAAGATGATGAAG ATTTGCCCCATCATGATGAGAAGACATGGAATGTTGGAAGCAGCAACCGAAACAAAGCTGAAAACCTGTTGCGAGGGAAGCGAGATGGCA CTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCTGCTCTGTAGTGGTGGACGGCGAAGTAAAGCATTGTGTCATAAACAAAA CAGCAACTGGCTATGGCTTTGCCGAGCCCTATAACTTGTACAGCTCTCTGAAAGAACTGGTGCTACATTACCAACACACCTCCCTTGTGC AGCACAACGACTCCCTCAATGTCACACTAGCCTACCCAGTATATGCACAGCAGAGGCGATGAAGCGCTTACTCTTTGATCCTTCTCCTGA AGTTCAGCCACCCTGAGGCCTCTGGAAAGCAAAGGGCTCCTCTCCAGTCTGATCTGTGAATTGAGCTGCAGAAACGAAGCCATCTTTCTT TGGATGGGACTAGAGCTTTCTTTCACAAAAAAGAAGTAGGGGAAGACATGCAGCCTAAGGCTGTATGATGACCACACGTTCCTAAGCTGG AGTGCTTATCCCTTCTTTTTCTTTTTTTCTTTGGTTTAATTTAAAGCCACAACCACATACAACACAAAGAGAAAAAGAAATGCAAAAATC TCTGCGTGCAGGGACAAAGAGGCCTTTAACCATGGTGCTTGTTAATGCTTTCTGAAGCTTTACCAGCTGAAAGTTGGGACTCTGGAGAGC GGAGGAGAGAGAGGCAGAAGAACCCTGGCCTGAGAAGGTTTGGTCCAGCCTGGTTTAGCCTGGATGTTGCTGTGCACGGTGGACCCAGAC ACATCGCACTGTGGATTATTTCATTTTGTAACAAATGAACGATATGTAGCAGAAAGGCACGTCCACTCACAAGGGACGCTTTGGGAGAAT GTCAGTTCATGTATGTTCAGAAGAAATTCTGTCATAGAAAGTGCCAGAAAGTGTTTAACTTGTCAAAAAACAAAAACCCAGCAACAGAAA AATGGAGTTTGGAAAACAGGACTTAAAATGACATTCAGTATATAAAATATGTACATAATATTGGATGACTAACTATCAAATAGATGGATT TGTATCAATACCAAATAGCTTCTGTTTTGTTTTGCTGAAGGCTAAATTCACAGCGCTATGCAATTCTTAATTTTCATTAAGTTGTTATTT CAGTTTTAAATGTACCTTCAGAATAAGCTTCCCCACCCCAGTTTTTGTTGCTTGAAAATATTGTTGTCCCGGATTTTTGTTAATATTCAT TTTTGTTATCCTTTTTTAAAAGTAAATGTACAGGATGCCAGTAAAAAAAAAAAATGGCTTCAGAATTAAAACTATGAAATATTTTACAGT TTTTCTTGTACAGAGTACTTGGCTGTTAGCCCAAGGTTAAAAAGTTCATAACAGATTTTTTTTGGACTGTTTTGTTGGGCAGTGCCTGAT >51804_51804_2_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000325631_PIK3R1_chr5_67589537_ENST00000521657_length(amino acids)=685AA_BP=394 MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFF RGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIII LVLGMSMYYRTILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFVTMIVYLISAL VCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNE TIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQ YLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKH -------------------------------------------------------------- >51804_51804_3_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000413223_PIK3R1_chr5_67589537_ENST00000521381_length(transcript)=5948nt_BP=852nt CAGGTGTGAAAATCACAAATGTCAAATGATGGAAGATCCAGGAATCGGGACAGGCGCTACGATGAGGTCCCAAGCGACCTGCCCTATCAA GATACCACCATAAGAACCCACCCAACTCTTCATGACAGTGAGCGGGCAGTGAGCGCTGATCCCTTGCCACCACCCCCTCTCCCATTACAG CCACCATTCGGCCCAGACTTCTACTCAAGTGACACAGAAGAACCAGCTATAGCGCCAGATCTCAAACCAGTAAGGCGCTTTGTCCCTGAC TCCTGGAAGAACTTTTTCAGAGGGAAGAAAAAGGACCCCGAATGGGATAAGCCGGTGTCTGATATCAGGTACATCTCCGATGGAGTGGAG TGTTCACCACCAGCCTCTCCAGCAAGACCAAACCACCGTTCGCCCCTCAACTCCTGCAAAGATCCCTACGGAGGGTCAGAAGGAACCTTT AGTTCCCGGAAAGAGGCTGACGCAGTGTTTCCCCGGGATCCCTATGGATCTCTAGACCGACACACACAAACAGTTCGAACATACAGTGAG AAGGTGGAGGAGTATAACCTGAGATACTCCTACATGAAGTCGTGGGCAGGCCTGCTGAGAATACTGGGTGTGGTGGAGCTGCTTTTGGGG GCCGGTGTCTTTGCTTGTGTCACAGCTTACATTCACAAGGACAGTGAGTGGTACAACTTGTTTGGATATTCACAACCGTATGGCATGGGA GGCGTTGGTGGATTGGGCAGTATTGCTTTGGTTTGCCTAAAGTTATGGAGGCATGAGGCAGCTCGGAGACATAGAGAATATATGGAACAA CAGGAGATAAATGAGCCATCATTGTCATCGAAAAGGAAAATGGATCAAGTTGTCAAAGAAGATAATATTGAAGCTGTAGGGAAAAAATTA CATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATAGATTATATGAAGAATATACCCGCACATCCCAGGAAATCCAAATG AAAAGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTGAAGAACAGTGCCAGACCCAAGAGCGGTACAGCAAAGAATACATA GAAAAGTTTAAACGTGAAGGCAATGAGAAAGAAATACAAAGGATTATGCATAATTATGATAAGTTGAAGTCTCGAATCAGTGAAATTATT GACAGTAGAAGAAGATTGGAAGAAGACTTGAAGAAGCAGGCAGCTGAGTATCGAGAAATTGACAAACGTATGAACAGCATTAAACCAGAC CTTATCCAGCTGAGAAAGACGAGAGACCAATACTTGATGTGGTTGACTCAAAAAGGTGTTCGGCAAAAGAAGTTGAACGAGTGGTTGGGC AATGAAAACACTGAAGACCAATATTCACTGGTGGAAGATGATGAAGATTTGCCCCATCATGATGAGAAGACATGGAATGTTGGAAGCAGC AACCGAAACAAAGCTGAAAACCTGTTGCGAGGGAAGCGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCTGC TCTGTAGTGGTGGACGGCGAAGTAAAGCATTGTGTCATAAACAAAACAGCAACTGGCTATGGCTTTGCCGAGCCCTATAACTTGTACAGC TCTCTGAAAGAACTGGTGCTACATTACCAACACACCTCCCTTGTGCAGCACAACGACTCCCTCAATGTCACACTAGCCTACCCAGTATAT GCACAGCAGAGGCGATGAAGCGCTTACTCTTTGATCCTTCTCCTGAAGTTCAGCCACCCTGAGGCCTCTGGAAAGCAAAGGGCTCCTCTC CAGTCTGATCTGTGAATTGAGCTGCAGAAACGAAGCCATCTTTCTTTGGATGGGACTAGAGCTTTCTTTCACAAAAAAGAAGTAGGGGAA GACATGCAGCCTAAGGCTGTATGATGACCACACGTTCCTAAGCTGGAGTGCTTATCCCTTCTTTTTCTTTTTTTCTTTGGTTTAATTTAA AGCCACAACCACATACAACACAAAGAGAAAAAGAAATGCAAAAATCTCTGCGTGCAGGGACAAAGAGGCCTTTAACCATGGTGCTTGTTA ATGCTTTCTGAAGCTTTACCAGCTGAAAGTTGGGACTCTGGAGAGCGGAGGAGAGAGAGGCAGAAGAACCCTGGCCTGAGAAGGTTTGGT CCAGCCTGGTTTAGCCTGGATGTTGCTGTGCACGGTGGACCCAGACACATCGCACTGTGGATTATTTCATTTTGTAACAAATGAACGATA TGTAGCAGAAAGGCACGTCCACTCACAAGGGACGCTTTGGGAGAATGTCAGTTCATGTATGTTCAGAAGAAATTCTGTCATAGAAAGTGC CAGAAAGTGTTTAACTTGTCAAAAAACAAAAACCCAGCAACAGAAAAATGGAGTTTGGAAAACAGGACTTAAAATGACATTCAGTATATA AAATATGTACATAATATTGGATGACTAACTATCAAATAGATGGATTTGTATCAATACCAAATAGCTTCTGTTTTGTTTTGCTGAAGGCTA AATTCACAGCGCTATGCAATTCTTAATTTTCATTAAGTTGTTATTTCAGTTTTAAATGTACCTTCAGAATAAGCTTCCCCACCCCAGTTT TTGTTGCTTGAAAATATTGTTGTCCCGGATTTTTGTTAATATTCATTTTTGTTATCCTTTTTTAAAAGTAAATGTACAGGATGCCAGTAA AAAAAAAAAATGGCTTCAGAATTAAAACTATGAAATATTTTACAGTTTTTCTTGTACAGAGTACTTGGCTGTTAGCCCAAGGTTAAAAAG TTCATAACAGATTTTTTTTGGACTGTTTTGTTGGGCAGTGCCTGATAAGCTTCAAAGCTGCTTTATTCAATAAAAAAAAGAAATGAAAAA GATATATGAATATGACAAAGTATTGCTGAGTCCAACAATGTTGTTTTAAGACTCTTAAAATACGGTACCTGGCAATGTTTATTTCATAAA GAATTGTGAACTTCTTGAATCTAGGGAGGGGGAATGTAGTGAAGGGATGTATCAAGTGGGGTGGTGGGAGGGGGAGGCAAGGTTATATGC ACTTTCTCATGATTTACAGAGAAGTGAATAACTGCAAAGTGAAGTTGCTTCTTCTACTTCAGTCTTCTCTCACTTTGATTTGCTAGTTGT TATCAATTAATGACAATTACAAACCTACTGTATCTCTAATACAGTGTGACTGGTCAGGTATTTCAGTTCTTAGGAAGGAAGTGCCAAGTT TGTTTTTGGGTTCCTGGAACAGCGCTCACCTTTGTTTAGAACACTGGTTTAAAGGGATAATCATCTCTGTCACATTAGACTATCCATCAT GACCAGCAAATACTCATTTTAGGAAAAAAAAAAGCATGATCTGAAAAATACTTTTGGTGGTATGTTGGTTACCCTCCTAGCTTTCCATTT GGTTTAGAACATAAAGCAAATAGACACAGTCATACTGTCACTGCTCTGGACTGTGTGGAGCTCGCTAAAGTCATGGTCATTGCAGGAATC CAAGTGGCAGTCCTTCTCATTCATTCTAATCATTGTATGTGCTTCACTACGGGGGGGAGAAGGAAACGTTAGCATCATGTTTCCCATTTA GGGCAGGAGTGAGAGGTCTCTCTTCCTGATTTAGATATGCAAAAGCTGGTATGTTCAGTAGGAACTGTACATGTGTTGGGAGGCATAAAG ACTAATTAGCAACCATAATATGGTCACTACCCTAATAGACTAAATGAAATCTTGCAATTTCAAATTACTCTTTCTCCATATTAGATTTAC CCACAGCTATATTTCTGTTTAAGTACTAGGGTGAGGGTTTTCTGTTACTTTGTTTTTTAATGTTGTTCCTTTTGAAAGAATCAGTCTTGC AGCTGAGTGAAAAATCTGTGGAATGTATTATTTGTCCTCTTTACATGAAACTACTCATACTTAAGCAAAAGTCAGTCTTATAGCAAGACT GTTAGCCCTCAAACTTGACTCTACTGATCTGACCATTTCCCTCTCATCGCCAGACAACTGACGATTTCCCTGGTTTTAGTCTGCGTCTCT GCTTTAAAGTTATTGTGATATCCTTCTAGATCATACACAAGTCTAACAGTTAATTAGTTAACAGTTTTTAAACTAGGTTTGTGGGTATTT TTTTGGTAGCACATGTATGCTATTACATACAAATTTTTATTTCTAAAATATAAGATCTGAGATTGAATATTTTCATTAAAAGCTACAGTT TTGTGAATCTTTGTGCTTCAACATTCTTTGCAAGATGATACGGTATTTAGGCATTTGCCTTATTTTTGCATCTCACAAACATAAGTGCAA TAGATCTTTTCATTGAACAGCAAAGTAGGATTCATCATTCCATATGACTTGAGTTACACCAGACCTGTTCTGCCCAATGCCTTTTTGATT ACAGTGTAGCTTGCCCACCGCATTTGTCGTTTTAGATACTTTGCTAGCCGGCCACTTTGGATTTCATCAGACAGTCCTAACAATATTGTC TGAACGGCTGAATATGAATAGATACAGCAGAGGCACTCCTGATATATGATTTTTATCCATGCGTCAGTTTTTCCCACCCAGTGTAGCATC CTAAAGATAAAGCCAGAAGCTAAGCTGCAGTGAGGCTGTGATTGGGCGTAGAAGTGGGAGCATTGGGACCTCACATTACACACACGAGAG ATCATAACCATGTGAAAAGGCAAAAAGCATGTGTTTGCAACATCTGATAACTTCATGGCCTTTGATAAATGTATATATGTATATGTGCAT GGACTGTGTTTCCAGTACACCTTTCAGCCAAAACAGATCCACAGTAGTTGTTGAGTTCAAGTACATAAAGTACATAACAAGCGAACGTCT AGTACAATTCTTACTTATGTGTATGGGATTTTTCCCTTTGAGGTTGCTTTGTTTTGTCTTACAAAGGTGAAAATTGTTTGTAAGTGAAGT GAGAAGTTCATATTTCTTTGGCTTTTTTGTGTTTTTAAAAGTTACTCCTTTTAGGGAGCTGGTCTGATGACTTGCTTAGCTTGGAAATCC TTGTTTTCAGTGTGTCGAGTCAAAATGTGTTTATGTGAGCTGTCACTGTGGGGAACCAATTGCTTTGTCATATAGCTGGTTATGAACTAG TAACATGTTTGGGAAGTCCTACTGATGTTCCTTTGGAAGAAAAAATCTGCTGGTTTTAACAACTGTGCTTTTGCTATGTATGGTATCCAA GTTAGTTGAAACGCAGACACTGAGATCTGTTTGAGTTTAGGGTCATTTTTAGAAAGGGGCAGTTTAAAGCACAATGTCTCACATGGGACA AAGTTCCAAAATGCCAAATTCTTATTTTTTAAAAAGCTAGTTCTATAAAATACTGGTATTATGGGTGGGGAGGAAATAGAATTGAGTCAA TTGGAAAGACTATCCAACTTAACATGAAACTTGTCACCATGAGATAGCATTAGCTGCCCAGGATGCTGCTATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATGTGTGTGTATATATATATAT ATGTGTATATATATATGTATATACATATATGTATATATATGCACATATATATATGTATTTAAAAAAATCAAAACAAAAAAAAACTCATTT ATACCTGTGTATTTTTTAAAGCTACAATCTGTTCAATGTTTTTAAAAATCTGTTTATATGACATTGTTAAAATAAAGTTGGTCTTTTGAC GAGAGGGAGGATGTCACGGTCAGTTGTAACTTTGCCTTCACAAGGCAACTGGGGTGGGGGGTGGGGGTAGTGTGCCTCCTTGACATTTCG TTCAAGTTATAGATTCAATGGAGCTATGTCTTGTTTTAAGTTGCTTTAATGCATTGTATTAGATCTTCAAACAGAATAAAGGTTGTTTTG >51804_51804_3_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000413223_PIK3R1_chr5_67589537_ENST00000521381_length(amino acids)=569AA_BP=278 MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFF RGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSIALVCLKLWRHEAARRHREYMEQQEINEP SLSSKRKMDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKRE GNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTED QYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKTATGYGFAEPYNLYSSLKELV -------------------------------------------------------------- >51804_51804_4_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000413223_PIK3R1_chr5_67589537_ENST00000521657_length(transcript)=2880nt_BP=852nt CAGGTGTGAAAATCACAAATGTCAAATGATGGAAGATCCAGGAATCGGGACAGGCGCTACGATGAGGTCCCAAGCGACCTGCCCTATCAA GATACCACCATAAGAACCCACCCAACTCTTCATGACAGTGAGCGGGCAGTGAGCGCTGATCCCTTGCCACCACCCCCTCTCCCATTACAG CCACCATTCGGCCCAGACTTCTACTCAAGTGACACAGAAGAACCAGCTATAGCGCCAGATCTCAAACCAGTAAGGCGCTTTGTCCCTGAC TCCTGGAAGAACTTTTTCAGAGGGAAGAAAAAGGACCCCGAATGGGATAAGCCGGTGTCTGATATCAGGTACATCTCCGATGGAGTGGAG TGTTCACCACCAGCCTCTCCAGCAAGACCAAACCACCGTTCGCCCCTCAACTCCTGCAAAGATCCCTACGGAGGGTCAGAAGGAACCTTT AGTTCCCGGAAAGAGGCTGACGCAGTGTTTCCCCGGGATCCCTATGGATCTCTAGACCGACACACACAAACAGTTCGAACATACAGTGAG AAGGTGGAGGAGTATAACCTGAGATACTCCTACATGAAGTCGTGGGCAGGCCTGCTGAGAATACTGGGTGTGGTGGAGCTGCTTTTGGGG GCCGGTGTCTTTGCTTGTGTCACAGCTTACATTCACAAGGACAGTGAGTGGTACAACTTGTTTGGATATTCACAACCGTATGGCATGGGA GGCGTTGGTGGATTGGGCAGTATTGCTTTGGTTTGCCTAAAGTTATGGAGGCATGAGGCAGCTCGGAGACATAGAGAATATATGGAACAA CAGGAGATAAATGAGCCATCATTGTCATCGAAAAGGAAAATGGATCAAGTTGTCAAAGAAGATAATATTGAAGCTGTAGGGAAAAAATTA CATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATAGATTATATGAAGAATATACCCGCACATCCCAGGAAATCCAAATG AAAAGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTGAAGAACAGTGCCAGACCCAAGAGCGGTACAGCAAAGAATACATA GAAAAGTTTAAACGTGAAGGCAATGAGAAAGAAATACAAAGGATTATGCATAATTATGATAAGTTGAAGTCTCGAATCAGTGAAATTATT GACAGTAGAAGAAGATTGGAAGAAGACTTGAAGAAGCAGGCAGCTGAGTATCGAGAAATTGACAAACGTATGAACAGCATTAAACCAGAC CTTATCCAGCTGAGAAAGACGAGAGACCAATACTTGATGTGGTTGACTCAAAAAGGTGTTCGGCAAAAGAAGTTGAACGAGTGGTTGGGC AATGAAAACACTGAAGACCAATATTCACTGGTGGAAGATGATGAAGATTTGCCCCATCATGATGAGAAGACATGGAATGTTGGAAGCAGC AACCGAAACAAAGCTGAAAACCTGTTGCGAGGGAAGCGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCTGC TCTGTAGTGGTGGACGGCGAAGTAAAGCATTGTGTCATAAACAAAACAGCAACTGGCTATGGCTTTGCCGAGCCCTATAACTTGTACAGC TCTCTGAAAGAACTGGTGCTACATTACCAACACACCTCCCTTGTGCAGCACAACGACTCCCTCAATGTCACACTAGCCTACCCAGTATAT GCACAGCAGAGGCGATGAAGCGCTTACTCTTTGATCCTTCTCCTGAAGTTCAGCCACCCTGAGGCCTCTGGAAAGCAAAGGGCTCCTCTC CAGTCTGATCTGTGAATTGAGCTGCAGAAACGAAGCCATCTTTCTTTGGATGGGACTAGAGCTTTCTTTCACAAAAAAGAAGTAGGGGAA GACATGCAGCCTAAGGCTGTATGATGACCACACGTTCCTAAGCTGGAGTGCTTATCCCTTCTTTTTCTTTTTTTCTTTGGTTTAATTTAA AGCCACAACCACATACAACACAAAGAGAAAAAGAAATGCAAAAATCTCTGCGTGCAGGGACAAAGAGGCCTTTAACCATGGTGCTTGTTA ATGCTTTCTGAAGCTTTACCAGCTGAAAGTTGGGACTCTGGAGAGCGGAGGAGAGAGAGGCAGAAGAACCCTGGCCTGAGAAGGTTTGGT CCAGCCTGGTTTAGCCTGGATGTTGCTGTGCACGGTGGACCCAGACACATCGCACTGTGGATTATTTCATTTTGTAACAAATGAACGATA TGTAGCAGAAAGGCACGTCCACTCACAAGGGACGCTTTGGGAGAATGTCAGTTCATGTATGTTCAGAAGAAATTCTGTCATAGAAAGTGC CAGAAAGTGTTTAACTTGTCAAAAAACAAAAACCCAGCAACAGAAAAATGGAGTTTGGAAAACAGGACTTAAAATGACATTCAGTATATA AAATATGTACATAATATTGGATGACTAACTATCAAATAGATGGATTTGTATCAATACCAAATAGCTTCTGTTTTGTTTTGCTGAAGGCTA AATTCACAGCGCTATGCAATTCTTAATTTTCATTAAGTTGTTATTTCAGTTTTAAATGTACCTTCAGAATAAGCTTCCCCACCCCAGTTT TTGTTGCTTGAAAATATTGTTGTCCCGGATTTTTGTTAATATTCATTTTTGTTATCCTTTTTTAAAAGTAAATGTACAGGATGCCAGTAA AAAAAAAAAATGGCTTCAGAATTAAAACTATGAAATATTTTACAGTTTTTCTTGTACAGAGTACTTGGCTGTTAGCCCAAGGTTAAAAAG TTCATAACAGATTTTTTTTGGACTGTTTTGTTGGGCAGTGCCTGATAAGCTTCAAAGCTGCTTTATTCAATAAAAAAAAGAAATGAAAAA >51804_51804_4_MARVELD2-PIK3R1_MARVELD2_chr5_68720463_ENST00000413223_PIK3R1_chr5_67589537_ENST00000521657_length(amino acids)=569AA_BP=278 MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFF RGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSIALVCLKLWRHEAARRHREYMEQQEINEP SLSSKRKMDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKRE GNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTED QYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKTATGYGFAEPYNLYSSLKELV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for MARVELD2-PIK3R1 |
| 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 MARVELD2-PIK3R1 |
| 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 MARVELD2-PIK3R1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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