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Fusion Protein:MARVELD2-PIK3R1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: MARVELD2-PIK3R1 | FusionPDB ID: 51804 | FusionGDB2.0 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 | ENST ids | ENST00000325631, ENST00000413223, | ENST00000274335, ENST00000320694, ENST00000336483, ENST00000396611, ENST00000517643, ENST00000523872, ENST00000521381, ENST00000521657, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * 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 (manual curation of fusion genes in FusionPDB) | PubMed: MARVELD2 [Title/Abstract] AND PIK3R1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MARVELD2(68720463)-PIK3R1(67589537), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | MARVELD2-PIK3R1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MARVELD2-PIK3R1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MARVELD2-PIK3R1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. MARVELD2-PIK3R1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 ORF Analysis |
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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 |
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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 Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >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(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(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(amino acids)=569AA_BP=278 MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFF RGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSIALVCLKLWRHEAARRHREYMEQQEINEP SLSSKRKMDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKRE GNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTED QYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKTATGYGFAEPYNLYSSLKELV -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() 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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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: 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. |
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- 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 | 394.0 | 559.0 | Compositional bias | Note=Poly-Pro |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 188_367 | 394.0 | 559.0 | Domain | MARVEL |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 1_194 | 394.0 | 559.0 | Topological domain | Cytoplasmic |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 216_223 | 394.0 | 559.0 | Topological domain | Extracellular |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 245_254 | 394.0 | 559.0 | Topological domain | Cytoplasmic |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 276_291 | 394.0 | 559.0 | Topological domain | Extracellular |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 313_319 | 394.0 | 559.0 | Topological domain | Cytoplasmic |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 338_341 | 394.0 | 559.0 | Topological domain | Extracellular |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 195_215 | 394.0 | 559.0 | Transmembrane | Helical |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 224_244 | 394.0 | 559.0 | Transmembrane | Helical |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 255_275 | 394.0 | 559.0 | Transmembrane | Helical |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 292_312 | 394.0 | 559.0 | Transmembrane | Helical |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 320_337 | 394.0 | 559.0 | Transmembrane | Helical |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 342_362 | 394.0 | 559.0 | Transmembrane | Helical |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 624_718 | 433.0 | 725.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 333_428 | 133.0 | 425.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 624_718 | 133.0 | 425.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 333_428 | 163.0 | 455.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 624_718 | 163.0 | 455.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 624_718 | 433.0 | 733.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 624_718 | 433.0 | 725.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 624_718 | 433.0 | 725.0 | Domain | SH2 2 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 113_301 | 70.0 | 362.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 333_428 | 70.0 | 362.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 624_718 | 70.0 | 362.0 | Domain | SH2 2 |
- 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 | 394.0 | 559.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 514_517 | 394.0 | 559.0 | Compositional bias | Note=Poly-Lys |
Hgene | MARVELD2 | chr5:68720463 | chr5:67589537 | ENST00000325631 | + | 3 | 7 | 363_558 | 394.0 | 559.0 | Topological domain | Cytoplasmic |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 113_301 | 433.0 | 725.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 333_428 | 433.0 | 725.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000274335 | 8 | 15 | 3_79 | 433.0 | 725.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 113_301 | 133.0 | 425.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000320694 | 3 | 10 | 3_79 | 133.0 | 425.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 113_301 | 163.0 | 455.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000336483 | 3 | 10 | 3_79 | 163.0 | 455.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 113_301 | 433.0 | 733.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 333_428 | 433.0 | 733.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000396611 | 8 | 15 | 3_79 | 433.0 | 733.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 113_301 | 433.0 | 725.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 333_428 | 433.0 | 725.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521381 | 9 | 16 | 3_79 | 433.0 | 725.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 113_301 | 433.0 | 725.0 | Domain | Rho-GAP | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 333_428 | 433.0 | 725.0 | Domain | SH2 1 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000521657 | 9 | 16 | 3_79 | 433.0 | 725.0 | Domain | SH3 | |
Tgene | PIK3R1 | chr5:68720463 | chr5:67589537 | ENST00000523872 | 2 | 9 | 3_79 | 70.0 | 362.0 | Domain | SH3 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
MARVELD2 | |
PIK3R1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MARVELD2-PIK3R1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MARVELD2-PIK3R1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |