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Fusion Protein:GTF2I-RARA |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: GTF2I-RARA | FusionPDB ID: 35244 | FusionGDB2.0 ID: 35244 | Hgene | Tgene | Gene symbol | GTF2I | RARA | Gene ID | 2969 | 5914 |
| Gene name | general transcription factor IIi | retinoic acid receptor alpha | |
| Synonyms | BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6 | NR1B1|RAR | |
| Cytomap | 7q11.23 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | general transcription factor II-IBTK-associated protein, 135kDBruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosome region 6 | retinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q6EKJ0 | P10276 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000324896, ENST00000346152, ENST00000353920, ENST00000416070, ENST00000443166, ENST00000438130, | ENST00000394081, ENST00000394086, ENST00000420042, ENST00000425707, ENST00000254066, ENST00000394089, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 15 X 8=1560 | 29 X 39 X 17=19227 |
| # samples | 14 | 55 | |
| ** MAII score | log2(14/1560*10)=-3.47804729680464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(55/19227*10)=-5.12755824682814 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: GTF2I [Title/Abstract] AND RARA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GTF2I(74114964)-RARA(38504565), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | GTF2I-RARA 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. GTF2I-RARA 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. GTF2I-RARA 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. GTF2I-RARA 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 | GTF2I | GO:0016525 | negative regulation of angiogenesis | 19242469 |
| Tgene | RARA | GO:0007165 | signal transduction | 2825025 |
| Tgene | RARA | GO:0030853 | negative regulation of granulocyte differentiation | 19917671 |
| Tgene | RARA | GO:0032689 | negative regulation of interferon-gamma production | 18416830 |
| Tgene | RARA | GO:0032720 | negative regulation of tumor necrosis factor production | 18416830 |
| Tgene | RARA | GO:0032736 | positive regulation of interleukin-13 production | 18416830 |
| Tgene | RARA | GO:0032753 | positive regulation of interleukin-4 production | 18416830 |
| Tgene | RARA | GO:0032754 | positive regulation of interleukin-5 production | 18416830 |
| Tgene | RARA | GO:0045630 | positive regulation of T-helper 2 cell differentiation | 18416830 |
| Tgene | RARA | GO:0045892 | negative regulation of transcription, DNA-templated | 20080953 |
| Tgene | RARA | GO:0045893 | positive regulation of transcription, DNA-templated | 18845237|19850744|20080953 |
| Tgene | RARA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19850744|21131358 |
| Tgene | RARA | GO:0071300 | cellular response to retinoic acid | 19917671 |
| Tgene | RARA | GO:0071391 | cellular response to estrogen stimulus | 20080953 |
| Fusion gene breakpoints across GTF2I (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 RARA (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 |
| ChimerKB4 | . | . | GTF2I | chr7 | 74114935 | + | RARA | chr17 | 74114935 | + |
| ChiTaRS5.0 | N/A | KP100665 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + |
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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) |
| ENST00000324896 | GTF2I | chr7 | 74114964 | + | ENST00000254066 | RARA | chr17 | 38504565 | + | 2756 | 975 | 119 | 2185 | 688 |
| ENST00000324896 | GTF2I | chr7 | 74114964 | + | ENST00000394089 | RARA | chr17 | 38504565 | + | 2291 | 975 | 119 | 2185 | 688 |
| ENST00000353920 | GTF2I | chr7 | 74114964 | + | ENST00000254066 | RARA | chr17 | 38504565 | + | 2683 | 902 | 46 | 2112 | 688 |
| ENST00000353920 | GTF2I | chr7 | 74114964 | + | ENST00000394089 | RARA | chr17 | 38504565 | + | 2218 | 902 | 46 | 2112 | 688 |
| ENST00000346152 | GTF2I | chr7 | 74114964 | + | ENST00000254066 | RARA | chr17 | 38504565 | + | 2683 | 902 | 46 | 2112 | 688 |
| ENST00000346152 | GTF2I | chr7 | 74114964 | + | ENST00000394089 | RARA | chr17 | 38504565 | + | 2218 | 902 | 46 | 2112 | 688 |
| ENST00000416070 | GTF2I | chr7 | 74114964 | + | ENST00000254066 | RARA | chr17 | 38504565 | + | 2683 | 902 | 46 | 2112 | 688 |
| ENST00000416070 | GTF2I | chr7 | 74114964 | + | ENST00000394089 | RARA | chr17 | 38504565 | + | 2218 | 902 | 46 | 2112 | 688 |
| ENST00000443166 | GTF2I | chr7 | 74114964 | + | ENST00000254066 | RARA | chr17 | 38504565 | + | 2410 | 629 | 43 | 1839 | 598 |
| ENST00000443166 | GTF2I | chr7 | 74114964 | + | ENST00000394089 | RARA | chr17 | 38504565 | + | 1945 | 629 | 43 | 1839 | 598 |
| 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 |
| ENST00000324896 | ENST00000254066 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.011956873 | 0.9880432 |
| ENST00000324896 | ENST00000394089 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.017469596 | 0.9825304 |
| ENST00000353920 | ENST00000254066 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.013464614 | 0.9865354 |
| ENST00000353920 | ENST00000394089 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.018429682 | 0.9815703 |
| ENST00000346152 | ENST00000254066 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.013464614 | 0.9865354 |
| ENST00000346152 | ENST00000394089 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.018429682 | 0.9815703 |
| ENST00000416070 | ENST00000254066 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.013464614 | 0.9865354 |
| ENST00000416070 | ENST00000394089 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.018429682 | 0.9815703 |
| ENST00000443166 | ENST00000254066 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.012358449 | 0.9876416 |
| ENST00000443166 | ENST00000394089 | GTF2I | chr7 | 74114964 | + | RARA | chr17 | 38504565 | + | 0.015695544 | 0.9843045 |
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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 >35244_35244_1_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000324896_RARA_chr17_38504565_ENST00000254066_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_2_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000324896_RARA_chr17_38504565_ENST00000394089_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_3_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000346152_RARA_chr17_38504565_ENST00000254066_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_4_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000346152_RARA_chr17_38504565_ENST00000394089_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_5_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000353920_RARA_chr17_38504565_ENST00000254066_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_6_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000353920_RARA_chr17_38504565_ENST00000394089_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_7_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000416070_RARA_chr17_38504565_ENST00000254066_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_8_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000416070_RARA_chr17_38504565_ENST00000394089_length(amino acids)=688AA_BP=285 MPRSPRPLPLSPSDRIKALSEALPAGRPCGGDRSATDTHGPLAPSRLPSARQLPSAEAAPRRPQPARGPHSPPLGTPGPGAAWRRPHSGI MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_9_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000443166_RARA_chr17_38504565_ENST00000254066_length(amino acids)=598AA_BP=195 MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- >35244_35244_10_GTF2I-RARA_GTF2I_chr7_74114964_ENST00000443166_RARA_chr17_38504565_ENST00000394089_length(amino acids)=598AA_BP=195 MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEM HKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI SFIIKRPFLEPKKHVAIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINK VTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDL WDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAN QLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLKMEIPG -------------------------------------------------------------- |
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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/chr7:74114964/chr17:38504565) - 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 |
| GTF2I | RARA |
| FUNCTION: Receptor for retinoic acid (PubMed:19850744, PubMed:16417524, PubMed:20215566). Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes (PubMed:28167758). The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 (PubMed:28167758, PubMed:19398580). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:16417524). On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation (PubMed:9267036, PubMed:19850744, PubMed:20215566). Formation of a complex with histone deacetylases might lead to inhibition of RARE DNA element binding and to transcriptional repression (PubMed:28167758). Transcriptional activation and RARE DNA element binding might be supported by the transcription factor KLF2 (PubMed:28167758). RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis (By similarity). Has a role in the survival of early spermatocytes at the beginning prophase of meiosis (By similarity). In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes (By similarity). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). Together with RXRA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). In association with HDAC3, HDAC5 and HDAC7 corepressors, plays a role in the repression of microRNA-10a and thereby promotes the inflammatory response (PubMed:28167758). {ECO:0000250|UniProtKB:P11416, ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19398580, ECO:0000269|PubMed:19850744, ECO:0000269|PubMed:20215566, ECO:0000269|PubMed:28167758, ECO:0000269|PubMed:9267036}. |
| 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 | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 103_197 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 1 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 103_197 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 1 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 103_197 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 1 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 103_197 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 1 |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 88_153 | 59.333333333333336 | 463.0 | DNA binding | Nuclear receptor | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 88_153 | 54.333333333333336 | 458.0 | DNA binding | Nuclear receptor | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 88_153 | 59.333333333333336 | 463.0 | DNA binding | Nuclear receptor | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 88_153 | 0 | 366.0 | DNA binding | Nuclear receptor | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 183_417 | 59.333333333333336 | 463.0 | Domain | NR LBD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 183_417 | 54.333333333333336 | 458.0 | Domain | NR LBD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 183_417 | 59.333333333333336 | 463.0 | Domain | NR LBD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 183_417 | 0 | 366.0 | Domain | NR LBD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 408_416 | 59.333333333333336 | 463.0 | Motif | 9aaTAD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 408_416 | 54.333333333333336 | 458.0 | Motif | 9aaTAD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 408_416 | 59.333333333333336 | 463.0 | Motif | 9aaTAD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 408_416 | 0 | 366.0 | Motif | 9aaTAD | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 154_182 | 59.333333333333336 | 463.0 | Region | Note=Hinge | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 404_419 | 59.333333333333336 | 463.0 | Region | Note=Required for binding corepressor NCOR1 | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 154_182 | 54.333333333333336 | 458.0 | Region | Note=Hinge | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 404_419 | 54.333333333333336 | 458.0 | Region | Note=Required for binding corepressor NCOR1 | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 154_182 | 59.333333333333336 | 463.0 | Region | Note=Hinge | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 404_419 | 59.333333333333336 | 463.0 | Region | Note=Required for binding corepressor NCOR1 | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 154_182 | 0 | 366.0 | Region | Note=Hinge | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 1_87 | 0 | 366.0 | Region | Note=Modulating | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 404_419 | 0 | 366.0 | Region | Note=Required for binding corepressor NCOR1 | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 124_148 | 59.333333333333336 | 463.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 88_108 | 59.333333333333336 | 463.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 124_148 | 54.333333333333336 | 458.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 88_108 | 54.333333333333336 | 458.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 124_148 | 59.333333333333336 | 463.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 88_108 | 59.333333333333336 | 463.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 124_148 | 0 | 366.0 | Zinc finger | NR C4-type | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000425707 | 0 | 7 | 88_108 | 0 | 366.0 | Zinc finger | NR C4-type |
| - 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 | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 692_695 | 195.33333333333334 | 1252.6666666666667 | Compositional bias | Note=Poly-Asn |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 692_695 | 195.33333333333334 | 1256.0 | Compositional bias | Note=Poly-Asn |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 692_695 | 195.33333333333334 | 1257.0 | Compositional bias | Note=Poly-Asn |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 692_695 | 195.33333333333334 | 1237.3333333333333 | Compositional bias | Note=Poly-Asn |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 320_327 | 195.33333333333334 | 1252.6666666666667 | Motif | Nuclear localization signal |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 320_327 | 195.33333333333334 | 1256.0 | Motif | Nuclear localization signal |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 320_327 | 195.33333333333334 | 1257.0 | Motif | Nuclear localization signal |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 320_327 | 195.33333333333334 | 1237.3333333333333 | Motif | Nuclear localization signal |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 352_446 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 2 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 457_551 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 3 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 562_656 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 4 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 724_818 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 5 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000324896 | + | 6 | 35 | 859_953 | 195.33333333333334 | 1252.6666666666667 | Repeat | Note=GTF2I-like 6 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 352_446 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 2 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 457_551 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 3 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 562_656 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 4 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 724_818 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 5 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000346152 | + | 6 | 34 | 859_953 | 195.33333333333334 | 1256.0 | Repeat | Note=GTF2I-like 6 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 352_446 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 2 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 457_551 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 3 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 562_656 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 4 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 724_818 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 5 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000353920 | + | 6 | 34 | 859_953 | 195.33333333333334 | 1257.0 | Repeat | Note=GTF2I-like 6 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 352_446 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 2 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 457_551 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 3 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 562_656 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 4 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 724_818 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 5 |
| Hgene | GTF2I | chr7:74114964 | chr17:38504565 | ENST00000416070 | + | 6 | 33 | 859_953 | 195.33333333333334 | 1237.3333333333333 | Repeat | Note=GTF2I-like 6 |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000254066 | 1 | 9 | 1_87 | 59.333333333333336 | 463.0 | Region | Note=Modulating | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394081 | 0 | 8 | 1_87 | 54.333333333333336 | 458.0 | Region | Note=Modulating | |
| Tgene | RARA | chr7:74114964 | chr17:38504565 | ENST00000394089 | 1 | 9 | 1_87 | 59.333333333333336 | 463.0 | Region | Note=Modulating |
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 |
| GTF2I | |
| RARA |  |
| - 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 GTF2I-RARA |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to GTF2I-RARA |
| 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 |
| Tgene | RARA | C0023487 | Acute Promyelocytic Leukemia | 24 | CTD_human;ORPHANET |
| Tgene | RARA | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | RARA | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | RARA | C0009363 | Congenital ocular coloboma (disorder) | 1 | GENOMICS_ENGLAND |
| Tgene | RARA | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Tgene | RARA | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
| Tgene | RARA | C0086696 | Neoplasms, Therapy-Associated | 1 | CTD_human |
| Tgene | RARA | C0149940 | Sciatic Neuropathy | 1 | CTD_human |
| Tgene | RARA | C0154748 | Lesion of Sciatic Nerve | 1 | CTD_human |
| Tgene | RARA | C0206650 | Fibroadenoma | 1 | CTD_human |
| Tgene | RARA | C0242013 | Sciatic Neuritis | 1 | CTD_human |
| Tgene | RARA | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | RARA | C0600066 | Malignant Cystosarcoma Phyllodes | 1 | CTD_human |
| Tgene | RARA | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | RARA | C0751924 | Neuralgia-Neuritis, Sciatic Nerve | 1 | CTD_human |
| Tgene | RARA | C0751925 | Sciatic Nerve Palsy | 1 | CTD_human |
| Tgene | RARA | C0877578 | Treatment related secondary malignancy | 1 | CTD_human |
| Tgene | RARA | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | RARA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | RARA | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | RARA | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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