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Fusion Protein:SIPA1-FRMD8 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: SIPA1-FRMD8 | FusionPDB ID: 81933 | FusionGDB2.0 ID: 81933 | Hgene | Tgene | Gene symbol | SIPA1 | FRMD8 | Gene ID | 6494 | 83786 |
Gene name | signal-induced proliferation-associated 1 | FERM domain containing 8 | |
Synonyms | SPA1 | FKSG44|iTAP | |
Cytomap | 11q13.1 | 11q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | signal-induced proliferation-associated protein 1GTPase-activating protein Spa-1p130 SPA-1signal-induced proliferation-associated gene 1sipa-1 | FERM domain-containing protein 8band4.1 inhibitor LRP interactorbiliiRhom Tail-Associated Protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q9BZ67 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000394224, ENST00000394227, ENST00000527525, ENST00000534313, | ENST00000355991, ENST00000416776, ENST00000531296, ENST00000317568, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 4 X 4=64 | 10 X 11 X 10=1100 |
# samples | 5 | 18 | |
** MAII score | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1100*10)=-2.61143471208235 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: SIPA1 [Title/Abstract] AND FRMD8 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SIPA1(65412600)-FRMD8(65178713), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | SIPA1-FRMD8 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. SIPA1-FRMD8 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 | FRMD8 | GO:1904469 | positive regulation of tumor necrosis factor secretion | 29897333 |
![]() * 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 | CESC | TCGA-DS-A1O9-01A | SIPA1 | chr11 | 65412600 | - | FRMD8 | chr11 | 65178713 | + |
ChimerDB4 | CESC | TCGA-DS-A1O9-01A | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + |
ChimerDB4 | CESC | TCGA-DS-A1O9 | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + |
ChimerDB4 | SKCM | TCGA-FR-A3YO-06A | SIPA1 | chr11 | 65410110 | + | FRMD8 | chr11 | 65172335 | + |
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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) |
ENST00000534313 | SIPA1 | chr11 | 65412600 | + | ENST00000317568 | FRMD8 | chr11 | 65178713 | + | 3620 | 1336 | 177 | 1454 | 425 |
ENST00000527525 | SIPA1 | chr11 | 65412600 | + | ENST00000317568 | FRMD8 | chr11 | 65178713 | + | 3690 | 1406 | 247 | 1524 | 425 |
ENST00000394224 | SIPA1 | chr11 | 65412600 | + | ENST00000317568 | FRMD8 | chr11 | 65178713 | + | 3739 | 1455 | 296 | 1573 | 425 |
ENST00000394227 | SIPA1 | chr11 | 65412600 | + | ENST00000317568 | FRMD8 | chr11 | 65178713 | + | 3537 | 1253 | 94 | 1371 | 425 |
ENST00000534313 | SIPA1 | chr11 | 65410110 | + | ENST00000317568 | FRMD8 | chr11 | 65172335 | + | 3650 | 1161 | 177 | 1484 | 435 |
ENST00000527525 | SIPA1 | chr11 | 65410110 | + | ENST00000317568 | FRMD8 | chr11 | 65172335 | + | 3720 | 1231 | 247 | 1554 | 435 |
ENST00000394224 | SIPA1 | chr11 | 65410110 | + | ENST00000317568 | FRMD8 | chr11 | 65172335 | + | 3769 | 1280 | 296 | 1603 | 435 |
ENST00000394227 | SIPA1 | chr11 | 65410110 | + | ENST00000317568 | FRMD8 | chr11 | 65172335 | + | 3567 | 1078 | 94 | 1401 | 435 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000534313 | ENST00000317568 | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + | 0.13719428 | 0.8628057 |
ENST00000527525 | ENST00000317568 | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + | 0.14396358 | 0.8560364 |
ENST00000394224 | ENST00000317568 | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + | 0.13312648 | 0.86687356 |
ENST00000394227 | ENST00000317568 | SIPA1 | chr11 | 65412600 | + | FRMD8 | chr11 | 65178713 | + | 0.1355961 | 0.86440396 |
ENST00000534313 | ENST00000317568 | SIPA1 | chr11 | 65410110 | + | FRMD8 | chr11 | 65172335 | + | 0.1516846 | 0.8483154 |
ENST00000527525 | ENST00000317568 | SIPA1 | chr11 | 65410110 | + | FRMD8 | chr11 | 65172335 | + | 0.16208725 | 0.8379128 |
ENST00000394224 | ENST00000317568 | SIPA1 | chr11 | 65410110 | + | FRMD8 | chr11 | 65172335 | + | 0.14916837 | 0.8508317 |
ENST00000394227 | ENST00000317568 | SIPA1 | chr11 | 65410110 | + | FRMD8 | chr11 | 65172335 | + | 0.15203948 | 0.84796053 |
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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 >81933_81933_1_SIPA1-FRMD8_SIPA1_chr11_65410110_ENST00000394224_FRMD8_chr11_65172335_ENST00000317568_length(amino acids)=435AA_BP=303 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVAELMSSLIEYCIELSQAAEPAGPQDSATGSPS -------------------------------------------------------------- >81933_81933_2_SIPA1-FRMD8_SIPA1_chr11_65410110_ENST00000394227_FRMD8_chr11_65172335_ENST00000317568_length(amino acids)=435AA_BP=303 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVAELMSSLIEYCIELSQAAEPAGPQDSATGSPS -------------------------------------------------------------- >81933_81933_3_SIPA1-FRMD8_SIPA1_chr11_65410110_ENST00000527525_FRMD8_chr11_65172335_ENST00000317568_length(amino acids)=435AA_BP=303 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVAELMSSLIEYCIELSQAAEPAGPQDSATGSPS -------------------------------------------------------------- >81933_81933_4_SIPA1-FRMD8_SIPA1_chr11_65410110_ENST00000534313_FRMD8_chr11_65172335_ENST00000317568_length(amino acids)=435AA_BP=303 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVAELMSSLIEYCIELSQAAEPAGPQDSATGSPS -------------------------------------------------------------- >81933_81933_5_SIPA1-FRMD8_SIPA1_chr11_65412600_ENST00000394224_FRMD8_chr11_65178713_ENST00000317568_length(amino acids)=425AA_BP=387 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF -------------------------------------------------------------- >81933_81933_6_SIPA1-FRMD8_SIPA1_chr11_65412600_ENST00000394227_FRMD8_chr11_65178713_ENST00000317568_length(amino acids)=425AA_BP=387 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF -------------------------------------------------------------- >81933_81933_7_SIPA1-FRMD8_SIPA1_chr11_65412600_ENST00000527525_FRMD8_chr11_65178713_ENST00000317568_length(amino acids)=425AA_BP=387 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF -------------------------------------------------------------- >81933_81933_8_SIPA1-FRMD8_SIPA1_chr11_65412600_ENST00000534313_FRMD8_chr11_65178713_ENST00000317568_length(amino acids)=425AA_BP=387 MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:65412600/chr11:65178713) - 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 |
. | FRMD8 |
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: Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019). {ECO:0000269|PubMed:19572019, ECO:0000269|PubMed:29897333, ECO:0000269|PubMed:29897336}. |
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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 |
- 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 | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000394224 | + | 4 | 16 | 972_1034 | 328.0 | 1043.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000534313 | + | 4 | 16 | 972_1034 | 328.0 | 1043.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000394224 | + | 5 | 16 | 972_1034 | 386.3333333333333 | 1043.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000534313 | + | 5 | 16 | 972_1034 | 386.3333333333333 | 1043.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000394224 | + | 4 | 16 | 321_539 | 328.0 | 1043.0 | Domain | Rap-GAP |
Hgene | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000394224 | + | 4 | 16 | 687_763 | 328.0 | 1043.0 | Domain | PDZ |
Hgene | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000534313 | + | 4 | 16 | 321_539 | 328.0 | 1043.0 | Domain | Rap-GAP |
Hgene | SIPA1 | chr11:65410110 | chr11:65172335 | ENST00000534313 | + | 4 | 16 | 687_763 | 328.0 | 1043.0 | Domain | PDZ |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000394224 | + | 5 | 16 | 321_539 | 386.3333333333333 | 1043.0 | Domain | Rap-GAP |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000394224 | + | 5 | 16 | 687_763 | 386.3333333333333 | 1043.0 | Domain | PDZ |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000534313 | + | 5 | 16 | 321_539 | 386.3333333333333 | 1043.0 | Domain | Rap-GAP |
Hgene | SIPA1 | chr11:65412600 | chr11:65178713 | ENST00000534313 | + | 5 | 16 | 687_763 | 386.3333333333333 | 1043.0 | Domain | PDZ |
Tgene | FRMD8 | chr11:65410110 | chr11:65172335 | ENST00000317568 | 8 | 11 | 30_376 | 357.0 | 465.0 | Domain | FERM | |
Tgene | FRMD8 | chr11:65410110 | chr11:65172335 | ENST00000355991 | 7 | 10 | 30_376 | 301.0 | 409.0 | Domain | FERM | |
Tgene | FRMD8 | chr11:65412600 | chr11:65178713 | ENST00000317568 | 9 | 11 | 30_376 | 425.3333333333333 | 465.0 | Domain | FERM | |
Tgene | FRMD8 | chr11:65412600 | chr11:65178713 | ENST00000355991 | 8 | 10 | 30_376 | 369.3333333333333 | 409.0 | Domain | FERM |
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Fusion Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file >>>887_SIPA1_65412600_FRMD8_65178713_887_SIPA1_65412600_FRMD8_65178713_ranked_0.pdb | SIPA1 | 65410110 | 65412600 | ENST00000317568 | FRMD8 | chr11 | 65178713 | + | MPMWAGGVGSPRRGMAPASTDDLFARKLRQPARPPLTPHTFEPRPVRGPLLRSGSDAGEARPPTPASPRARAHSHEEASRPAATSTRLFT DPLALLGLPAEEPEPAFPPVLEPRWFAHYDVQSLLFDWAPRSQGMGSHSEASSGTLASAEDQAASSDLLHGAPGFVCELGGEGELGLGGP ASPPVPPALPNAAVSILEEPQNRTSAYSLEHADLGAGYYRKYFYGKEHQNFFGMDESLGPVAVSLRREEKEGSGGGTLHSYRVIVRTTQL RTLRGTISEDALPPGPPRGLSPRKLLEHVAPQLSPSCLRLGSASPKVPRTLLTLDEQVLSFQRKVGILYCRAGQGSEEEMYNNQEAGPAF | 425 |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
SIPA1_pLDDT.png![]() |
FRMD8_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
SIPA1 | |
FRMD8 |
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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 SIPA1-FRMD8 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SIPA1-FRMD8 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |