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Fusion Protein:ATXN7L1-EGFR |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ATXN7L1-EGFR | FusionPDB ID: 8454 | FusionGDB2.0 ID: 8454 | Hgene | Tgene | Gene symbol | ATXN7L1 | EGFR | Gene ID | 222255 | 1956 |
| Gene name | ataxin 7 like 1 | epidermal growth factor receptor | |
| Synonyms | ATXN7L4 | ERBB|ERBB1|HER1|NISBD2|PIG61|mENA | |
| Cytomap | 7q22.3 | 7p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ataxin-7-like protein 1ataxin 7-like 4ataxin-7-like protein 4 | epidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinas | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q9ULK2 | P00533 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000318724, ENST00000419735, ENST00000388807, ENST00000472910, ENST00000477775, ENST00000478915, | ENST00000454757, ENST00000463948, ENST00000275493, ENST00000342916, ENST00000344576, ENST00000420316, ENST00000442591, ENST00000455089, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 10 X 5=650 | 17 X 20 X 8=2720 |
| # samples | 13 | 22 | |
| ** MAII score | log2(13/650*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2720*10)=-3.62803122261304 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ATXN7L1 [Title/Abstract] AND EGFR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ATXN7L1(105516257)-EGFR(55209978), # samples:1 EGFR(55269475)-ATXN7L1(105251050), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | EGFR-ATXN7L1 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. EGFR-ATXN7L1 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. ATXN7L1-EGFR 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. ATXN7L1-EGFR 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. ATXN7L1-EGFR 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. ATXN7L1-EGFR 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 |
| Tgene | EGFR | GO:0001934 | positive regulation of protein phosphorylation | 20551055 |
| Tgene | EGFR | GO:0007165 | signal transduction | 10572067 |
| Tgene | EGFR | GO:0007166 | cell surface receptor signaling pathway | 7736574 |
| Tgene | EGFR | GO:0007173 | epidermal growth factor receptor signaling pathway | 7736574|12435727 |
| Tgene | EGFR | GO:0008283 | cell proliferation | 17115032 |
| Tgene | EGFR | GO:0008284 | positive regulation of cell proliferation | 7736574 |
| Tgene | EGFR | GO:0010750 | positive regulation of nitric oxide mediated signal transduction | 12828935 |
| Tgene | EGFR | GO:0018108 | peptidyl-tyrosine phosphorylation | 22732145 |
| Tgene | EGFR | GO:0030307 | positive regulation of cell growth | 15467833 |
| Tgene | EGFR | GO:0042177 | negative regulation of protein catabolic process | 17115032 |
| Tgene | EGFR | GO:0042327 | positive regulation of phosphorylation | 15082764 |
| Tgene | EGFR | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| Tgene | EGFR | GO:0045739 | positive regulation of DNA repair | 17115032 |
| Tgene | EGFR | GO:0045740 | positive regulation of DNA replication | 17115032 |
| Tgene | EGFR | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20551055 |
| Tgene | EGFR | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| Tgene | EGFR | GO:0050999 | regulation of nitric-oxide synthase activity | 12828935 |
| Tgene | EGFR | GO:0070141 | response to UV-A | 18483258 |
| Tgene | EGFR | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 20551055 |
| Tgene | EGFR | GO:0071392 | cellular response to estradiol stimulus | 20551055 |
| Tgene | EGFR | GO:1900020 | positive regulation of protein kinase C activity | 22732145 |
| Tgene | EGFR | GO:1903078 | positive regulation of protein localization to plasma membrane | 22732145 |
| Fusion gene breakpoints across ATXN7L1 (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 EGFR (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 | STAD | TCGA-VQ-AA6I | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + |
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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) |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000455089 | EGFR | chr7 | 55209978 | + | 3795 | 296 | 46 | 3483 | 1145 |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000342916 | EGFR | chr7 | 55209978 | + | 2201 | 296 | 46 | 2094 | 682 |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000344576 | EGFR | chr7 | 55209978 | + | 2827 | 296 | 46 | 2325 | 759 |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000420316 | EGFR | chr7 | 55209978 | + | 1534 | 296 | 46 | 1425 | 459 |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000275493 | EGFR | chr7 | 55209978 | + | 9852 | 296 | 46 | 3840 | 1264 |
| ENST00000419735 | ATXN7L1 | chr7 | 105516257 | - | ENST00000442591 | EGFR | chr7 | 55209978 | + | 2577 | 296 | 46 | 2181 | 711 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000455089 | EGFR | chr7 | 55209978 | + | 3773 | 274 | 24 | 3461 | 1145 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000342916 | EGFR | chr7 | 55209978 | + | 2179 | 274 | 24 | 2072 | 682 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000344576 | EGFR | chr7 | 55209978 | + | 2805 | 274 | 24 | 2303 | 759 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000420316 | EGFR | chr7 | 55209978 | + | 1512 | 274 | 24 | 1403 | 459 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000275493 | EGFR | chr7 | 55209978 | + | 9830 | 274 | 24 | 3818 | 1264 |
| ENST00000318724 | ATXN7L1 | chr7 | 105516257 | - | ENST00000442591 | EGFR | chr7 | 55209978 | + | 2555 | 274 | 24 | 2159 | 711 |
| 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 |
| ENST00000419735 | ENST00000455089 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000492983 | 0.99950707 |
| ENST00000419735 | ENST00000342916 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000827007 | 0.999173 |
| ENST00000419735 | ENST00000344576 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000746653 | 0.99925333 |
| ENST00000419735 | ENST00000420316 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000993029 | 0.99900705 |
| ENST00000419735 | ENST00000275493 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000299421 | 0.99970067 |
| ENST00000419735 | ENST00000442591 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000739162 | 0.99926084 |
| ENST00000318724 | ENST00000455089 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000469761 | 0.9995303 |
| ENST00000318724 | ENST00000342916 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000746393 | 0.9992536 |
| ENST00000318724 | ENST00000344576 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000692965 | 0.99930704 |
| ENST00000318724 | ENST00000420316 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.00090511 | 0.99909496 |
| ENST00000318724 | ENST00000275493 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000288578 | 0.99971145 |
| ENST00000318724 | ENST00000442591 | ATXN7L1 | chr7 | 105516257 | - | EGFR | chr7 | 55209978 | + | 0.000680009 | 0.99932003 |
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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 >8454_8454_1_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000275493_length(amino acids)=1264AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP DNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGL FMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKAN KEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVK TPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQP PICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSS PSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSSDPTGALTEDSIDDTFLPVPEYINQSVPKRPAGSVQNPVYHNQPLN PAPSRDPHYQDPHSTAVGNPEYLNTVQPTCVNSTFDSPAHWAQKGSHQISLDNPDYQQDFFPKEAKPNGIFKGSTAENAEYLRVAPQSSE -------------------------------------------------------------- >8454_8454_2_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000342916_length(amino acids)=682AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP -------------------------------------------------------------- >8454_8454_3_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000344576_length(amino acids)=759AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP DNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGPGNESLKAMLFCLFKLSSCNQSNDGSVSHQSGSPAAQES -------------------------------------------------------------- >8454_8454_4_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000420316_length(amino acids)=459AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK -------------------------------------------------------------- >8454_8454_5_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000442591_length(amino acids)=711AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP -------------------------------------------------------------- >8454_8454_6_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000318724_EGFR_chr7_55209978_ENST00000455089_length(amino acids)=1145AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQGQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCK DTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSI NATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVV SLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSR GRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCH PNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETE FKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDY VREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIY THQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVI QGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSS -------------------------------------------------------------- >8454_8454_7_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000275493_length(amino acids)=1264AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP DNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGL FMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKAN KEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVK TPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQP PICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSS PSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSSDPTGALTEDSIDDTFLPVPEYINQSVPKRPAGSVQNPVYHNQPLN PAPSRDPHYQDPHSTAVGNPEYLNTVQPTCVNSTFDSPAHWAQKGSHQISLDNPDYQQDFFPKEAKPNGIFKGSTAENAEYLRVAPQSSE -------------------------------------------------------------- >8454_8454_8_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000342916_length(amino acids)=682AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP -------------------------------------------------------------- >8454_8454_9_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000344576_length(amino acids)=759AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP DNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGPGNESLKAMLFCLFKLSSCNQSNDGSVSHQSGSPAAQES -------------------------------------------------------------- >8454_8454_10_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000420316_length(amino acids)=459AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK -------------------------------------------------------------- >8454_8454_11_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000442591_length(amino acids)=711AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICA QQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGS CVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILK TVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQ KTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGP -------------------------------------------------------------- >8454_8454_12_ATXN7L1-EGFR_ATXN7L1_chr7_105516257_ENST00000419735_EGFR_chr7_55209978_ENST00000455089_length(amino acids)=1145AA_BP=83 MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEVCQGTSN KLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYD ANKTGLKELPMRNLQGQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCK DTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSI NATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVV SLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSR GRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCH PNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETE FKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDY VREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIY THQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVI QGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNGLQSCPIKEDSFLQRYSS -------------------------------------------------------------- |
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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/chr7:105516257/chr7:55209978) - 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 |
| ATXN7L1 | EGFR |
| FUNCTION: Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704, PubMed:17909029). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity). {ECO:0000250|UniProtKB:Q01279, ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11116146, ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:11602604, ECO:0000269|PubMed:12297049, ECO:0000269|PubMed:12297050, ECO:0000269|PubMed:12620237, ECO:0000269|PubMed:12873986, ECO:0000269|PubMed:15374980, ECO:0000269|PubMed:15590694, ECO:0000269|PubMed:15611079, ECO:0000269|PubMed:17115032, ECO:0000269|PubMed:17909029, ECO:0000269|PubMed:19560417, ECO:0000269|PubMed:20462955, ECO:0000269|PubMed:20837704, ECO:0000269|PubMed:21258366, ECO:0000269|PubMed:27153536, ECO:0000269|PubMed:2790960, ECO:0000269|PubMed:7679104, ECO:0000269|PubMed:8144591, ECO:0000269|PubMed:9419975}.; FUNCTION: Isoform 2 may act as an antagonist of EGF action.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins. {ECO:0000269|PubMed:21516087}. |
| 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 |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 712_979 | 29.333333333333332 | 1211.0 | Domain | Protein kinase | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 712_979 | 29.333333333333332 | 629.0 | Domain | Protein kinase | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 712_979 | 29.333333333333332 | 706.0 | Domain | Protein kinase | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 712_979 | 29.333333333333332 | 406.0 | Domain | Protein kinase | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 718_726 | 29.333333333333332 | 1211.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 790_791 | 29.333333333333332 | 1211.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 718_726 | 29.333333333333332 | 629.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 790_791 | 29.333333333333332 | 629.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 718_726 | 29.333333333333332 | 706.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 790_791 | 29.333333333333332 | 706.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 718_726 | 29.333333333333332 | 406.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 790_791 | 29.333333333333332 | 406.0 | Nucleotide binding | ATP | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 688_704 | 29.333333333333332 | 1211.0 | Region | Note=Important for dimerization%2C phosphorylation and activation | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 688_704 | 29.333333333333332 | 629.0 | Region | Note=Important for dimerization%2C phosphorylation and activation | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 688_704 | 29.333333333333332 | 706.0 | Region | Note=Important for dimerization%2C phosphorylation and activation | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 688_704 | 29.333333333333332 | 406.0 | Region | Note=Important for dimerization%2C phosphorylation and activation | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 390_600 | 29.333333333333332 | 1211.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 75_300 | 29.333333333333332 | 1211.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 390_600 | 29.333333333333332 | 629.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 75_300 | 29.333333333333332 | 629.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 390_600 | 29.333333333333332 | 706.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 75_300 | 29.333333333333332 | 706.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 390_600 | 29.333333333333332 | 406.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 75_300 | 29.333333333333332 | 406.0 | Repeat | Note=Approximate | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 669_1210 | 29.333333333333332 | 1211.0 | Topological domain | Cytoplasmic | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 669_1210 | 29.333333333333332 | 629.0 | Topological domain | Cytoplasmic | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 669_1210 | 29.333333333333332 | 706.0 | Topological domain | Cytoplasmic | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 669_1210 | 29.333333333333332 | 406.0 | Topological domain | Cytoplasmic | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 646_668 | 29.333333333333332 | 1211.0 | Transmembrane | Helical | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 646_668 | 29.333333333333332 | 629.0 | Transmembrane | Helical | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 646_668 | 29.333333333333332 | 706.0 | Transmembrane | Helical | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 646_668 | 29.333333333333332 | 406.0 | Transmembrane | Helical |
| - 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 | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000318724 | - | 2 | 4 | 364_417 | 83.33333333333333 | 147.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000318724 | - | 2 | 4 | 536_847 | 83.33333333333333 | 147.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000419735 | - | 2 | 12 | 364_417 | 83.33333333333333 | 862.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000419735 | - | 2 | 12 | 536_847 | 83.33333333333333 | 862.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000477775 | - | 1 | 10 | 364_417 | 0 | 739.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000477775 | - | 1 | 10 | 536_847 | 0 | 739.0 | Compositional bias | Note=Ser-rich |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000318724 | - | 2 | 4 | 284_351 | 83.33333333333333 | 147.0 | Domain | SCA7 |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000419735 | - | 2 | 12 | 284_351 | 83.33333333333333 | 862.0 | Domain | SCA7 |
| Hgene | ATXN7L1 | chr7:105516257 | chr7:55209978 | ENST00000477775 | - | 1 | 10 | 284_351 | 0 | 739.0 | Domain | SCA7 |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000275493 | 0 | 28 | 25_645 | 29.333333333333332 | 1211.0 | Topological domain | Extracellular | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000342916 | 0 | 16 | 25_645 | 29.333333333333332 | 629.0 | Topological domain | Extracellular | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000344576 | 0 | 16 | 25_645 | 29.333333333333332 | 706.0 | Topological domain | Extracellular | |
| Tgene | EGFR | chr7:105516257 | chr7:55209978 | ENST00000420316 | 0 | 10 | 25_645 | 29.333333333333332 | 406.0 | Topological domain | Extracellular |
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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 |
| ATXN7L1 | |
| EGFR |
| - 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 |
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Related Drugs to ATXN7L1-EGFR |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ATXN7L1-EGFR |
| 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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