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Fusion Protein:ERBB2-HIAT1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ERBB2-HIAT1 | FusionPDB ID: 27150 | FusionGDB2.0 ID: 27150 | Hgene | Tgene | Gene symbol | ERBB2 | HIAT1 | Gene ID | 2064 | 64645 |
| Gene name | erb-b2 receptor tyrosine kinase 2 | major facilitator superfamily domain containing 14A | |
| Synonyms | CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1 | HIAT1 | |
| Cytomap | 17q12 | 1p21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | receptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2 | hippocampus abundant transcript 1 proteinhippocampus abundant gene transcript 1putative tetracycline transporter-like proteintetracycline transporter-like protein | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | P04626 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000269571, ENST00000406381, ENST00000445658, ENST00000540147, ENST00000541774, ENST00000584450, ENST00000584601, ENST00000540042, ENST00000578199, ENST00000584888, | ENST00000370152, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 50 X 44 X 14=30800 | 4 X 3 X 3=36 |
| # samples | 73 | 4 | |
| ** MAII score | log2(73/30800*10)=-5.39889007670225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ERBB2 [Title/Abstract] AND HIAT1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ERBB2(37882868)-HIAT1(100534041), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ERBB2-HIAT1 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. ERBB2-HIAT1 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. ERBB2-HIAT1 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. ERBB2-HIAT1 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 | ERBB2 | GO:0007165 | signal transduction | 10572067 |
| Hgene | ERBB2 | GO:0007166 | cell surface receptor signaling pathway | 9685399 |
| Hgene | ERBB2 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 7514177 |
| Hgene | ERBB2 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 |
| Hgene | ERBB2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 12000754 |
| Hgene | ERBB2 | GO:0032886 | regulation of microtubule-based process | 20937854 |
| Hgene | ERBB2 | GO:0035556 | intracellular signal transduction | 19372587 |
| Hgene | ERBB2 | GO:0042060 | wound healing | 12646923 |
| Hgene | ERBB2 | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| Hgene | ERBB2 | GO:0045785 | positive regulation of cell adhesion | 7556068 |
| Hgene | ERBB2 | GO:0046777 | protein autophosphorylation | 7556068 |
| Hgene | ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| Hgene | ERBB2 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
| Hgene | ERBB2 | GO:0090314 | positive regulation of protein targeting to membrane | 20010870 |
| Fusion gene breakpoints across ERBB2 (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 HIAT1 (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 | BRCA | TCGA-D8-A1XJ-01A | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + |
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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) |
| ENST00000584601 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 5546 | 3623 | 752 | 3640 | 962 |
| ENST00000406381 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 5259 | 3336 | 510 | 3353 | 947 |
| ENST00000541774 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 4794 | 2871 | 0 | 2888 | 962 |
| ENST00000445658 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 4274 | 2351 | 50 | 2368 | 772 |
| ENST00000540147 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 5077 | 3154 | 25 | 3171 | 1048 |
| ENST00000584450 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 5054 | 3131 | 2 | 3148 | 1048 |
| ENST00000269571 | ERBB2 | chr17 | 37882868 | + | ENST00000370152 | HIAT1 | chr1 | 100534041 | + | 4998 | 3075 | 57 | 3092 | 1011 |
| 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 |
| ENST00000584601 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.000769491 | 0.9992305 |
| ENST00000406381 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.000278888 | 0.9997211 |
| ENST00000541774 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.000453779 | 0.99954623 |
| ENST00000445658 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.001325425 | 0.99867463 |
| ENST00000540147 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.000743728 | 0.9992563 |
| ENST00000584450 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.00072358 | 0.99927646 |
| ENST00000269571 | ENST00000370152 | ERBB2 | chr17 | 37882868 | + | HIAT1 | chr1 | 100534041 | + | 0.000712945 | 0.99928707 |
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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 >27150_27150_1_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000269571_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=1011AA_BP= MRRAPGPHPSQHPAPRALPAGSSRSHGAGAAVSTMELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVV QGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLT EILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCC HEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAED GTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWP DSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVG EGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFC VARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYT MRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIWIPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAG VGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGL ARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWELMTFGAKPYDGIPAREIPDLLEKGERLPQPPICTIDVYMIMV -------------------------------------------------------------- >27150_27150_2_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000406381_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=947AA_BP= MKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNG DPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSE DCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACP YNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTA PLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTV PWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQ NGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSIISAVVG ILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIWIPDGENVKIPV AIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVR LVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWELMTFGAKPYDGIPARE -------------------------------------------------------------- >27150_27150_3_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000445658_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=772AA_BP= MRKYKNEVVKLRFPSIGTGETRGAPRAAARPFPRGPLLRRAPGPHPSQHPAPRALPAGSSRSHGAGAAVSTMELAALCRWGLLLALLPPG AASTQDNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDP ASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLC FVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHP ECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSII SAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIWIPDGEN VKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSY LEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWELMTFGAKPYDG -------------------------------------------------------------- >27150_27150_4_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000540147_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=1048AA_BP= MRKYKNEVVKLRFPSIGTGETRGAPRAAARPFPRGPLLRRAPGPHPSQHPAPRALPAGSSRSHGAGAAVSTMELAALCRWGLLLALLPPG AASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFE DNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMC KGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRY TFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPE SFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIH HNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARH CLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRAS PLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIW IPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQI AKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWELMTFG -------------------------------------------------------------- >27150_27150_5_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000541774_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=962AA_BP= MPRGSWKPQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGT QLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPC SPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNP EGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLA FLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGL ALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYV NARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAE QRASPLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVY KGIWIPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNW CMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWEL -------------------------------------------------------------- >27150_27150_6_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000584450_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=1048AA_BP= LRKYKNEVVKLRFPSIGTGETRGAPRAAARPFPRGPLLRRAPGPHPSQHPAPRALPAGSSRSHGAGAAVSTMELAALCRWGLLLALLPPG AASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFE DNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMC KGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRY TFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPE SFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIH HNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARH CLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRAS PLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIW IPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQI AKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWELMTFG -------------------------------------------------------------- >27150_27150_7_ERBB2-HIAT1_ERBB2_chr17_37882868_ENST00000584601_HIAT1_chr1_100534041_ENST00000370152_length(amino acids)=962AA_BP= MPRGSWKPQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGT QLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPC SPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNP EGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLA FLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGL ALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYV NARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAE QRASPLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVY KGIWIPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNW CMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFTHQSDVWSYGVTVWEL -------------------------------------------------------------- |
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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/chr17:37882868/chr1:100534041) - 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 |
| ERBB2 | . |
| FUNCTION: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization. {ECO:0000305}.; FUNCTION: In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth. {ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:15380516, ECO:0000269|PubMed:21555369}. | 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 |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 5_8 | 0 | 491.0 | Compositional bias | Note=Poly-Lys | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 125_126 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 148_160 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 182_188 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 1_40 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 210_243 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 265_284 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 306_313 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 335_337 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 359_379 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 401_427 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 449_490 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 62_74 | 0 | 491.0 | Topological domain | Cytoplasmic | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 96_103 | 0 | 491.0 | Topological domain | Extracellular | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 104_124 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D3 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 127_147 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D4 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 161_181 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D5 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 189_209 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D6 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 244_264 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D7 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 285_305 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D8 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 314_334 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D9 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 338_358 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D10 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 380_400 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D11 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 41_61 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D1 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 428_448 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D12 | |
| Tgene | HIAT1 | chr17:37882868 | chr1:100534041 | ENST00000370152 | 0 | 12 | 75_95 | 0 | 491.0 | Transmembrane | Helical%3B Name%3D2 |
| - 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 | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 720_987 | 0 | 1256.0 | Domain | Protein kinase |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 720_987 | 0.0 | 1241.0 | Domain | Protein kinase |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 676_689 | 0 | 1256.0 | Motif | Note=Nuclear localization signal |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 676_689 | 0.0 | 1241.0 | Motif | Note=Nuclear localization signal |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 726_734 | 0 | 1256.0 | Nucleotide binding | ATP |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 726_734 | 0.0 | 1241.0 | Nucleotide binding | ATP |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 23_652 | 0 | 1256.0 | Topological domain | Extracellular |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 676_1255 | 0 | 1256.0 | Topological domain | Cytoplasmic |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 23_652 | 0.0 | 1241.0 | Topological domain | Extracellular |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 676_1255 | 0.0 | 1241.0 | Topological domain | Cytoplasmic |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 653_675 | 0 | 1256.0 | Transmembrane | Helical |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 653_675 | 0.0 | 1241.0 | Transmembrane | Helical |
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 |
| ERBB2 | |
| HIAT1 |
| - 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 |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000269571 | + | 1 | 27 | 1195_1197 | 0 | 1256.0 | PIK3C2B |
| Hgene | ERBB2 | chr17:37882868 | chr1:100534041 | ENST00000541774 | + | 1 | 27 | 1195_1197 | 0.0 | 1241.0 | PIK3C2B |
Top |
Related Drugs to ERBB2-HIAT1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to ERBB2-HIAT1 |
| 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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