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Fusion Protein:ELP4-CFTR |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ELP4-CFTR | FusionPDB ID: 26332 | FusionGDB2.0 ID: 26332 | Hgene | Tgene | Gene symbol | ELP4 | CFTR | Gene ID | 26610 | 1080 |
| Gene name | elongator acetyltransferase complex subunit 4 | CF transmembrane conductance regulator | |
| Synonyms | AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4 | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 | |
| Cytomap | 11p13 | 7q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | elongator complex protein 4PAX6 neighbor gene proteinelongation protein 4 homolog | cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q96EB1 | P13569 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000350638, ENST00000379163, ENST00000395934, | ENST00000608965, ENST00000003084, ENST00000454343, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 12 X 7=1260 | 13 X 15 X 10=1950 |
| # samples | 14 | 13 | |
| ** MAII score | log2(14/1260*10)=-3.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/1950*10)=-3.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ELP4 [Title/Abstract] AND CFTR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ELP4(31616448)-CFTR(117170953), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ELP4-CFTR 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. ELP4-CFTR 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. ELP4-CFTR 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. ELP4-CFTR 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 | ELP4 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
| Tgene | CFTR | GO:0015701 | bicarbonate transport | 15010471|19019741 |
| Tgene | CFTR | GO:0034976 | response to endoplasmic reticulum stress | 21884936|28067262 |
| Tgene | CFTR | GO:1902476 | chloride transmembrane transport | 11524016|11707463|19019741 |
| Tgene | CFTR | GO:1902943 | positive regulation of voltage-gated chloride channel activity | 22006324 |
| Tgene | CFTR | GO:1904322 | cellular response to forskolin | 15010471|19621064 |
| Fusion gene breakpoints across ELP4 (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 CFTR (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-AC-A2QH-01A | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + |
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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) |
| ENST00000350638 | ELP4 | chr11 | 31616448 | - | ENST00000003084 | CFTR | chr7 | 117170953 | + | 6271 | 548 | 35 | 4717 | 1560 |
| ENST00000350638 | ELP4 | chr11 | 31616448 | - | ENST00000454343 | CFTR | chr7 | 117170953 | + | 6092 | 548 | 35 | 4534 | 1499 |
| ENST00000379163 | ELP4 | chr11 | 31616448 | - | ENST00000003084 | CFTR | chr7 | 117170953 | + | 6251 | 528 | 15 | 4697 | 1560 |
| ENST00000379163 | ELP4 | chr11 | 31616448 | - | ENST00000454343 | CFTR | chr7 | 117170953 | + | 6072 | 528 | 15 | 4514 | 1499 |
| ENST00000395934 | ELP4 | chr11 | 31616448 | - | ENST00000003084 | CFTR | chr7 | 117170953 | + | 6243 | 520 | 7 | 4689 | 1560 |
| ENST00000395934 | ELP4 | chr11 | 31616448 | - | ENST00000454343 | CFTR | chr7 | 117170953 | + | 6064 | 520 | 7 | 4506 | 1499 |
| 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 |
| ENST00000350638 | ENST00000003084 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.00013152 | 0.9998685 |
| ENST00000350638 | ENST00000454343 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.000140257 | 0.9998597 |
| ENST00000379163 | ENST00000003084 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.000132488 | 0.99986744 |
| ENST00000379163 | ENST00000454343 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.000141888 | 0.99985814 |
| ENST00000395934 | ENST00000003084 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.000129705 | 0.9998703 |
| ENST00000395934 | ENST00000454343 | ELP4 | chr11 | 31616448 | - | CFTR | chr7 | 117170953 | + | 0.000138679 | 0.99986136 |
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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 >26332_26332_1_ELP4-CFTR_ELP4_chr11_31616448_ENST00000350638_CFTR_chr7_117170953_ENST00000003084_length(amino acids)=1560AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGST GAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDE PLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEI SEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITST SSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLI VIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWF LYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTK PYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQID GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLF -------------------------------------------------------------- >26332_26332_2_ELP4-CFTR_ELP4_chr11_31616448_ENST00000350638_CFTR_chr7_117170953_ENST00000454343_length(amino acids)=1499AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVI KACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLK KADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSI LNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTAST RKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVL WLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGG ILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSI DVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVG LLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQF PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKV -------------------------------------------------------------- >26332_26332_3_ELP4-CFTR_ELP4_chr11_31616448_ENST00000379163_CFTR_chr7_117170953_ENST00000003084_length(amino acids)=1560AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGST GAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDE PLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEI SEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITST SSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLI VIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWF LYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTK PYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQID GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLF -------------------------------------------------------------- >26332_26332_4_ELP4-CFTR_ELP4_chr11_31616448_ENST00000379163_CFTR_chr7_117170953_ENST00000454343_length(amino acids)=1499AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVI KACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLK KADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSI LNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTAST RKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVL WLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGG ILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSI DVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVG LLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQF PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKV -------------------------------------------------------------- >26332_26332_5_ELP4-CFTR_ELP4_chr11_31616448_ENST00000395934_CFTR_chr7_117170953_ENST00000003084_length(amino acids)=1560AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGST GAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF SSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDE PLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEI SEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITST SSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLI VIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWF LYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTK PYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQID GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSV LSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLF -------------------------------------------------------------- >26332_26332_6_ELP4-CFTR_ELP4_chr11_31616448_ENST00000395934_CFTR_chr7_117170953_ENST00000454343_length(amino acids)=1499AA_BP=171 MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDK YNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEEVTKAVQPL LLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNK FDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINK IQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVI KACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLK KADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSI LNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTAST RKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVL WLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGG ILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKG LWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSI DVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVG LLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQF PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKV -------------------------------------------------------------- |
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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/chr11:31616448/chr7:117170953) - 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 |
| ELP4 | CFTR |
| FUNCTION: Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:16713582). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:16713582, ECO:0000303|PubMed:29332244}. | FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}. |
| 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 | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1210_1443 | 91.0 | 1481.0 | Domain | ABC transporter 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 423_646 | 91.0 | 1481.0 | Domain | ABC transporter 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 859_1155 | 91.0 | 1481.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1210_1443 | 91.0 | 1420.0 | Domain | ABC transporter 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 423_646 | 91.0 | 1420.0 | Domain | ABC transporter 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 859_1155 | 91.0 | 1420.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1244_1251 | 91.0 | 1481.0 | Nucleotide binding | ATP 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 458_465 | 91.0 | 1481.0 | Nucleotide binding | ATP 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1244_1251 | 91.0 | 1420.0 | Nucleotide binding | ATP 2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 458_465 | 91.0 | 1420.0 | Nucleotide binding | ATP 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 654_831 | 91.0 | 1481.0 | Region | Intrinsically disordered R region | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 654_831 | 91.0 | 1420.0 | Region | Intrinsically disordered R region | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1012_1013 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1035_1095 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1117_1130 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1152_1480 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 147_195 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 217_222 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 244_298 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 320_339 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 359_858 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 880_918 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 940_990 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 99_122 | 91.0 | 1481.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1012_1013 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1035_1095 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1117_1130 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1152_1480 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 147_195 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 217_222 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 244_298 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 320_339 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 359_858 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 880_918 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 940_990 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 99_122 | 91.0 | 1420.0 | Topological domain | Extracellular | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1014_1034 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D10 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1096_1116 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D11 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1131_1151 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D12 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 123_146 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 196_216 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D3 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 223_243 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D4 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 299_319 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D5 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 340_358 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D6 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 859_879 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D7 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 919_939 | 91.0 | 1481.0 | Transmembrane | Discontinuously helical%3B Name%3D8 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 991_1011 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D9 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1014_1034 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D10 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1096_1116 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D11 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1131_1151 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D12 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 123_146 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D2 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 196_216 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D3 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 223_243 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D4 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 299_319 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D5 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 340_358 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D6 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 859_879 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D7 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 919_939 | 91.0 | 1420.0 | Transmembrane | Discontinuously helical%3B Name%3D8 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 991_1011 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D9 |
| - 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 |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 81_365 | 91.0 | 1481.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 81_365 | 91.0 | 1420.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 1_77 | 91.0 | 1481.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 1_77 | 91.0 | 1420.0 | Topological domain | Cytoplasmic | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000003084 | 2 | 27 | 78_98 | 91.0 | 1481.0 | Transmembrane | Helical%3B Name%3D1 | |
| Tgene | CFTR | chr11:31616448 | chr7:117170953 | ENST00000454343 | 2 | 26 | 78_98 | 91.0 | 1420.0 | Transmembrane | Helical%3B Name%3D1 |
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 |
| ELP4 | |
| CFTR |
| - 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 ELP4-CFTR |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to ELP4-CFTR |
| 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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