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Fusion Protein:HIF1A-SF3B1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: HIF1A-SF3B1 | FusionPDB ID: 36347 | FusionGDB2.0 ID: 36347 | Hgene | Tgene | Gene symbol | HIF1A | SF3B1 | Gene ID | 3091 | 23451 |
| Gene name | hypoxia inducible factor 1 subunit alpha | splicing factor 3b subunit 1 | |
| Synonyms | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | Hsh155|MDS|PRP10|PRPF10|SAP155|SF3b155 | |
| Cytomap | 14q23.2 | 2q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit | splicing factor 3B subunit 1pre-mRNA processing 10pre-mRNA splicing factor SF3b, 155 kDa subunitspliceosome-associated protein 155splicing factor 3b, subunit 1, 155kDa | |
| Modification date | 20200329 | 20200329 | |
| UniProtAcc | Q9NWT6 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000323441, ENST00000337138, ENST00000394997, ENST00000539097, ENST00000557538, ENST00000557206, | ENST00000409915, ENST00000414963, ENST00000462613, ENST00000487698, ENST00000335508, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 14 X 11 X 10=1540 | 6 X 8 X 4=192 |
| # samples | 24 | 9 | |
| ** MAII score | log2(24/1540*10)=-2.68182403997375 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/192*10)=-1.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: HIF1A [Title/Abstract] AND SF3B1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HIF1A(62203827)-SF3B1(198283312), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | HIF1A-SF3B1 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. HIF1A-SF3B1 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. HIF1A-SF3B1 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. HIF1A-SF3B1 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) |
| 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 | HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
| Hgene | HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
| Hgene | HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
| Hgene | HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
| Hgene | HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
| Hgene | HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
| Hgene | HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
| Hgene | HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
| Hgene | HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100|25043030 |
| Hgene | HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| Hgene | HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
| Hgene | HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
| Hgene | HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
| Hgene | HIF1A | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19782034 |
| Hgene | HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
| Tgene | SF3B1 | GO:0000398 | mRNA splicing, via spliceosome | 11252167|28781166|29360106 |
| Fusion gene breakpoints across HIF1A (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 SF3B1 (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 Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | Non-Cancer | ERR315469 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000394997 | HIF1A | chr14 | 62203827 | + | ENST00000335508 | SF3B1 | chr2 | 198283312 | - | 7536 | 1517 | 265 | 5016 | 1583 |
| ENST00000337138 | HIF1A | chr14 | 62203827 | + | ENST00000335508 | SF3B1 | chr2 | 198283312 | - | 7533 | 1514 | 265 | 5013 | 1582 |
| ENST00000323441 | HIF1A | chr14 | 62203827 | + | ENST00000335508 | SF3B1 | chr2 | 198283312 | - | 7296 | 1277 | 28 | 4776 | 1582 |
| ENST00000557538 | HIF1A | chr14 | 62203827 | + | ENST00000335508 | SF3B1 | chr2 | 198283312 | - | 7569 | 1550 | 229 | 5049 | 1606 |
| ENST00000539097 | HIF1A | chr14 | 62203827 | + | ENST00000335508 | SF3B1 | chr2 | 198283312 | - | 7569 | 1550 | 229 | 5049 | 1606 |
| 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 |
| ENST00000394997 | ENST00000335508 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - | 0.000149259 | 0.99985075 |
| ENST00000337138 | ENST00000335508 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - | 0.000149886 | 0.99985003 |
| ENST00000323441 | ENST00000335508 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - | 0.000116203 | 0.9998838 |
| ENST00000557538 | ENST00000335508 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - | 0.000127114 | 0.9998729 |
| ENST00000539097 | ENST00000335508 | HIF1A | chr14 | 62203827 | + | SF3B1 | chr2 | 198283312 | - | 0.000127114 | 0.9998729 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >36347_36347_1_HIF1A-SF3B1_HIF1A_chr14_62203827_ENST00000323441_SF3B1_chr2_198283312_ENST00000335508_length(amino acids)=1582AA_BP=410 MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISYLRVRKLLDAGDLDIEDDMKAQMNC FYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKEQNTQRSFFLRMKCTLTSRGR TMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSKTFLSRHSLDMKFSYCDERITELMGYEPEEL LGRSIYEYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVNYVVSGIIQHDLIFSLQQTECV LKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQL AEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTP AGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPV LTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMT GFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLF NQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDE YVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAAL AEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVE ANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQL IDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEYL GEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKA IRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMG KDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQ -------------------------------------------------------------- >36347_36347_2_HIF1A-SF3B1_HIF1A_chr14_62203827_ENST00000337138_SF3B1_chr2_198283312_ENST00000335508_length(amino acids)=1582AA_BP=410 MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISYLRVRKLLDAGDLDIEDDMKAQMNC FYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKEQNTQRSFFLRMKCTLTSRGR TMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSKTFLSRHSLDMKFSYCDERITELMGYEPEEL LGRSIYEYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVNYVVSGIIQHDLIFSLQQTECV LKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQL AEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTP AGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPV LTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMT GFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLF NQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDE YVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAAL AEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVE ANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQL IDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEYL GEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKA IRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMG KDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQ -------------------------------------------------------------- >36347_36347_3_HIF1A-SF3B1_HIF1A_chr14_62203827_ENST00000394997_SF3B1_chr2_198283312_ENST00000335508_length(amino acids)=1583AA_BP=411 MEGAGGANDKKNRISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISYLRVRKLLDAGDLDIEDDMKAQMN CFYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKEQNTQRSFFLRMKCTLTSRG RTMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSKTFLSRHSLDMKFSYCDERITELMGYEPEE LLGRSIYEYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVNYVVSGIIQHDLIFSLQQTEC VLKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQ LAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHT PAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTP VLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGM TGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPL FNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMD EYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAA LAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGV EANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQ LIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEY LGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKK AIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEM GKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCL -------------------------------------------------------------- >36347_36347_4_HIF1A-SF3B1_HIF1A_chr14_62203827_ENST00000539097_SF3B1_chr2_198283312_ENST00000335508_length(amino acids)=1606AA_BP=434 MSSQCRSLENKFVFLKEGLGNSKPEELEEIRIENGRISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISY LRVRKLLDAGDLDIEDDMKAQMNCFYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVK KGKEQNTQRSFFLRMKCTLTSRGRTMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSKTFLSRH SLDMKFSYCDERITELMGYEPEELLGRSIYEYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIV CVNYVVSGIIQHDLIFSLQQTECVLKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNGGKTPDPKMN ARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGR AKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPT PGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPP AGYVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGT PPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIIS NLAKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVE IIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQ SPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMV METIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRT AVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAE YVSAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRV PELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQ -------------------------------------------------------------- >36347_36347_5_HIF1A-SF3B1_HIF1A_chr14_62203827_ENST00000557538_SF3B1_chr2_198283312_ENST00000335508_length(amino acids)=1606AA_BP=434 MSSQCRSLENKFVFLKEGLGNSKPEELEEIRIENGRISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISY LRVRKLLDAGDLDIEDDMKAQMNCFYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVK KGKEQNTQRSFFLRMKCTLTSRGRTMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSKTFLSRH SLDMKFSYCDERITELMGYEPEELLGRSIYEYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIV CVNYVVSGIIQHDLIFSLQQTECVLKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNGGKTPDPKMN ARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGR AKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPT PGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPP AGYVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGT PPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIIS NLAKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVE IIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQ SPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMV METIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRT AVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAE YVSAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRV PELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQ -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:62203827/chr2:198283312) - 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 |
| HIF1A | . |
| FUNCTION: Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation. {ECO:0000269|PubMed:12042299, ECO:0000269|PubMed:12080085, ECO:0000269|PubMed:17003112, ECO:0000269|PubMed:17573339, ECO:0000269|PubMed:18299578, ECO:0000269|PubMed:19245366, ECO:0000269|PubMed:21177872, ECO:0000269|PubMed:21251231}. | 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. |
| 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. |
| - 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 | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 17_70 | 416.3333333333333 | 736.0 | Domain | bHLH |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 228_298 | 416.3333333333333 | 736.0 | Domain | PAS 2 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 302_345 | 416.3333333333333 | 736.0 | Domain | Note=PAC |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 85_158 | 416.3333333333333 | 736.0 | Domain | PAS 1 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 17_70 | 416.3333333333333 | 827.0 | Domain | bHLH |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 228_298 | 416.3333333333333 | 827.0 | Domain | PAS 2 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 302_345 | 416.3333333333333 | 827.0 | Domain | Note=PAC |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 85_158 | 416.3333333333333 | 827.0 | Domain | PAS 1 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 17_70 | 440.3333333333333 | 851.0 | Domain | bHLH |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 228_298 | 440.3333333333333 | 851.0 | Domain | PAS 2 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 302_345 | 440.3333333333333 | 851.0 | Domain | Note=PAC |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 85_158 | 440.3333333333333 | 851.0 | Domain | PAS 1 |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 170_191 | 416.3333333333333 | 736.0 | Region | Required for heterodimer formation with ARNT |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 21_30 | 416.3333333333333 | 736.0 | Region | DNA-binding |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 380_417 | 416.3333333333333 | 736.0 | Region | Note=N-terminal VHL recognition site |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 170_191 | 416.3333333333333 | 827.0 | Region | Required for heterodimer formation with ARNT |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 21_30 | 416.3333333333333 | 827.0 | Region | DNA-binding |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 380_417 | 416.3333333333333 | 827.0 | Region | Note=N-terminal VHL recognition site |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 170_191 | 440.3333333333333 | 851.0 | Region | Required for heterodimer formation with ARNT |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 21_30 | 440.3333333333333 | 851.0 | Region | DNA-binding |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 380_417 | 440.3333333333333 | 851.0 | Region | Note=N-terminal VHL recognition site |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 1010_1048 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 8 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 1052_1090 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 9 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 1122_1160 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 10 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 1163_1201 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 11 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 569_603 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 2 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 604_641 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 3 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 643_677 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 4 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 680_718 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 5 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 763_801 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 6 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000335508 | 3 | 25 | 843_881 | 138.33333333333334 | 1305.0 | Repeat | Note=HEAT 7 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 1010_1048 | 157.0 | 88.0 | Repeat | Note=HEAT 8 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 1052_1090 | 157.0 | 88.0 | Repeat | Note=HEAT 9 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 1122_1160 | 157.0 | 88.0 | Repeat | Note=HEAT 10 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 1163_1201 | 157.0 | 88.0 | Repeat | Note=HEAT 11 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 569_603 | 157.0 | 88.0 | Repeat | Note=HEAT 2 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 604_641 | 157.0 | 88.0 | Repeat | Note=HEAT 3 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 643_677 | 157.0 | 88.0 | Repeat | Note=HEAT 4 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 680_718 | 157.0 | 88.0 | Repeat | Note=HEAT 5 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 763_801 | 157.0 | 88.0 | Repeat | Note=HEAT 6 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000409915 | 4 | 7 | 843_881 | 157.0 | 88.0 | Repeat | Note=HEAT 7 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 1010_1048 | 0 | 145.0 | Repeat | Note=HEAT 8 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 1052_1090 | 0 | 145.0 | Repeat | Note=HEAT 9 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 1122_1160 | 0 | 145.0 | Repeat | Note=HEAT 10 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 1163_1201 | 0 | 145.0 | Repeat | Note=HEAT 11 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 569_603 | 0 | 145.0 | Repeat | Note=HEAT 2 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 604_641 | 0 | 145.0 | Repeat | Note=HEAT 3 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 643_677 | 0 | 145.0 | Repeat | Note=HEAT 4 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 680_718 | 0 | 145.0 | Repeat | Note=HEAT 5 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 763_801 | 0 | 145.0 | Repeat | Note=HEAT 6 | |
| Tgene | SF3B1 | chr14:62203827 | chr2:198283312 | ENST00000414963 | 0 | 5 | 843_881 | 0 | 145.0 | Repeat | Note=HEAT 7 |
| - 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 | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 615_621 | 416.3333333333333 | 736.0 | Compositional bias | Note=Poly-Thr |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 615_621 | 416.3333333333333 | 827.0 | Compositional bias | Note=Poly-Thr |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 615_621 | 440.3333333333333 | 851.0 | Compositional bias | Note=Poly-Thr |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 718_721 | 416.3333333333333 | 736.0 | Motif | Nuclear localization signal |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 718_721 | 416.3333333333333 | 827.0 | Motif | Nuclear localization signal |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 718_721 | 440.3333333333333 | 851.0 | Motif | Nuclear localization signal |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 401_603 | 416.3333333333333 | 736.0 | Region | Note=ODD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 531_575 | 416.3333333333333 | 736.0 | Region | Note=NTAD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 556_572 | 416.3333333333333 | 736.0 | Region | Note=C-terminal VHL recognition site |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 576_785 | 416.3333333333333 | 736.0 | Region | Note=ID |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000323441 | + | 9 | 14 | 786_826 | 416.3333333333333 | 736.0 | Region | Note=CTAD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 401_603 | 416.3333333333333 | 827.0 | Region | Note=ODD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 531_575 | 416.3333333333333 | 827.0 | Region | Note=NTAD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 556_572 | 416.3333333333333 | 827.0 | Region | Note=C-terminal VHL recognition site |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 576_785 | 416.3333333333333 | 827.0 | Region | Note=ID |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000337138 | + | 9 | 15 | 786_826 | 416.3333333333333 | 827.0 | Region | Note=CTAD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 401_603 | 440.3333333333333 | 851.0 | Region | Note=ODD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 531_575 | 440.3333333333333 | 851.0 | Region | Note=NTAD |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 556_572 | 440.3333333333333 | 851.0 | Region | Note=C-terminal VHL recognition site |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 576_785 | 440.3333333333333 | 851.0 | Region | Note=ID |
| Hgene | HIF1A | chr14:62203827 | chr2:198283312 | ENST00000539097 | + | 9 | 15 | 786_826 | 440.3333333333333 | 851.0 | Region | Note=CTAD |
Top |
Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| HIF1A | |
| SF3B1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs to HIF1A-SF3B1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to HIF1A-SF3B1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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