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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ASXL1-EIF2S2 (FusionGDB2 ID:HG171023TG8894) |
Fusion Gene Summary for ASXL1-EIF2S2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASXL1-EIF2S2 | Fusion gene ID: hg171023tg8894 | Hgene | Tgene | Gene symbol | ASXL1 | EIF2S2 | Gene ID | 171023 | 8894 |
| Gene name | ASXL transcriptional regulator 1 | eukaryotic translation initiation factor 2 subunit beta | |
| Synonyms | BOPS|MDS | EIF2|EIF2B|EIF2beta|PPP1R67|eIF-2-beta | |
| Cytomap | ('ASXL1')('EIF2S2') 20q11.21 | 20q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1 | eukaryotic translation initiation factor 2 subunit 2eukaryotic translation initiation factor 2, subunit 2 beta, 38kDaprotein phosphatase 1, regulatory subunit 67 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000470145, ENST00000306058, ENST00000375687, ENST00000375689, ENST00000542461, | ||
| Fusion gene scores | * DoF score | 16 X 10 X 8=1280 | 12 X 7 X 8=672 |
| # samples | 21 | 13 | |
| ** MAII score | log2(21/1280*10)=-2.60768257722124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/672*10)=-2.36994960975031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ASXL1 [Title/Abstract] AND EIF2S2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ASXL1(30956926)-EIF2S2(32693351), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | ASXL1-EIF2S2 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. ASXL1-EIF2S2 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. ASXL1-EIF2S2 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. ASXL1-EIF2S2 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 | ASXL1 | GO:0035522 | monoubiquitinated histone H2A deubiquitination | 20436459 |
| Fusion gene breakpoints across ASXL1 (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 EIF2S2 (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 information * 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 | CESC | TCGA-DS-A7WH-01A | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
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Fusion Gene ORF analysis for ASXL1-EIF2S2 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 3UTR-3CDS | ENST00000470145 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
| In-frame | ENST00000306058 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
| In-frame | ENST00000375687 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
| In-frame | ENST00000375689 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
| In-frame | ENST00000542461 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| ENST00000375687 | ASXL1 | chr20 | 30956926 | + | ENST00000374980 | EIF2S2 | chr20 | 32693351 | - | 3095 | 676 | 178 | 1662 | 494 |
| ENST00000542461 | ASXL1 | chr20 | 30956926 | + | ENST00000374980 | EIF2S2 | chr20 | 32693351 | - | 3085 | 666 | 171 | 1652 | 493 |
| ENST00000375689 | ASXL1 | chr20 | 30956926 | + | ENST00000374980 | EIF2S2 | chr20 | 32693351 | - | 2841 | 422 | 182 | 1408 | 408 |
| ENST00000306058 | ASXL1 | chr20 | 30956926 | + | ENST00000374980 | EIF2S2 | chr20 | 32693351 | - | 2656 | 237 | 0 | 1223 | 407 |
| 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 |
| ENST00000375687 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - | 0.000625566 | 0.99937445 |
| ENST00000542461 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - | 0.000736291 | 0.9992637 |
| ENST00000375689 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - | 0.000673236 | 0.9993268 |
| ENST00000306058 | ENST00000374980 | ASXL1 | chr20 | 30956926 | + | EIF2S2 | chr20 | 32693351 | - | 0.00057976 | 0.9994203 |
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Fusion Genomic Features for ASXL1-EIF2S2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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Fusion Protein Features for ASXL1-EIF2S2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:30956926/chr20:32693351) - 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 |
| . | . |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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. |
| - In-frame and 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 | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 2_9 | 84 | 1542.0 | Compositional bias | Note=Poly-Lys |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 11_86 | 84 | 1542.0 | Domain | HTH HARE-type |
| Tgene | EIF2S2 | chr20:30956926 | chr20:32693351 | ENST00000374980 | 0 | 9 | 124_129 | 5 | 334.0 | Compositional bias | Note=Poly-Lys | |
| Tgene | EIF2S2 | chr20:30956926 | chr20:32693351 | ENST00000374980 | 0 | 9 | 14_21 | 5 | 334.0 | Compositional bias | Note=Poly-Lys | |
| Tgene | EIF2S2 | chr20:30956926 | chr20:32693351 | ENST00000374980 | 0 | 9 | 79_87 | 5 | 334.0 | Compositional bias | Note=Poly-Lys | |
| Tgene | EIF2S2 | chr20:30956926 | chr20:32693351 | ENST00000374980 | 0 | 9 | 281_305 | 5 | 334.0 | Zinc finger | C4-type |
| - In-frame and 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 | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 1457_1460 | 84 | 1542.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 199_209 | 84 | 1542.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 641_684 | 84 | 1542.0 | Compositional bias | Note=Gly-rich |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 255_364 | 84 | 1542.0 | Domain | DEUBAD |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 160_164 | 84 | 1542.0 | Motif | Nuclear localization signal 1 |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 284_288 | 84 | 1542.0 | Motif | Note=LXXLL motif |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 409_413 | 84 | 1542.0 | Motif | Nuclear localization signal 2 |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 1503_1540 | 84 | 1542.0 | Zinc finger | Note=PHD-type%3B atypical |
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Fusion Gene Sequence for ASXL1-EIF2S2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >7292_7292_1_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000306058_EIF2S2_chr20_32693351_ENST00000374980_length(transcript)=2656nt_BP=237nt ATGGGGGTTGTGAATTTTGTGTTCAGAGCGTCAGAGGACTTGCAGGTATTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGATT CTGCAGGTCATAGAGGCAGAAGGACTAAAGGAAATGAGTGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTACATTCCAATTCAAGA GGAGGAGAGGGGTTGTTTTATAAACTGCCTGGCCGAATCAGCCTTTTCACGCTCAAGATGATTTTTGATCCTACTATGAGCAAGAAGAAA AAGAAGAAGAAGAAGCCTTTTATGTTAGATGAGGAAGGGGATACCCAAACAGAGGAAACCCAGCCTTCAGAAACAAAAGAAGTGGAGCCA GAGCCAACTGAGGACAAGGATTTGGAAGCTGATGAAGAGGACACTAGGAAAAAAGATGCTTCTGATGATCTAGATGACTTGAACTTCTTT AATCAAAAGAAAAAGAAGAAAAAAACTAAAAAGATATTTGATATTGATGAAGCTGAAGAAGGTGTAAAGGATCTTAAGATTGAAAGTGAT GTTCAAGAACCAACTGAACCAGAGGATGACCTTGACATTATGCTTGGCAATAAAAAGAAGAAAAAGAAGAATGTTAAGTTCCCAGATGAG GATGAAATACTAGAGAAAGATGAAGCTCTAGAAGATGAAGACAACAAAAAAGATGATGGTATCTCATTCAGTAATCAGACAGGCCCTGCT TGGGCAGGCTCAGAAAGAGACTACACATACGAGGAGCTGCTGAATCGAGTGTTCAACATCATGAGGGAAAAGAATCCAGATATGGTTGCT GGGGAGAAAAGGAAATTTGTCATGAAACCTCCACAAGTCGTCCGAGTAGGAACCAAGAAAACTTCTTTTGTCAACTTTACAGATATCTGT AAACTATTACATCGTCAGCCCAAACATCTCCTTGCATTTTTGTTGGCTGAATTGGGTACAAGTGGTTCTATAGATGGTAATAACCAACTT GTAATCAAAGGAAGATTCCAACAGAAACAGATAGAAAATGTCTTGAGAAGATATATCAAGGAATATGTCACTTGTCACACATGCCGATCA CCGGACACAATCCTGCAGAAGGACACACGACTCTATTTCCTACAGTGCGAAACTTGTCATTCTAGATGTTCTGTTGCCAGTATCAAAACC GGCTTCCAGGCTGTCACGGGCAAGCGAGCACAGCTCCGTGCCAAAGCTAACTAATTTGCTAATCACTGATTTTGCAAAGCTTGTTGTGGA GATGTGGCTGGACAGGTTTGCCATCAGAGTGGATATACCGTTGTATTAAAAACAAGATAAAAAAGCTGCCAAGATTTTTGGCGAGTGGTT GGTCTGAAGTCCTTGCAAGACGCTGATGCTCAAGCTGTTGACATACTCATTGCCTACTTTAACACCTGTCAGAGAAACGTGATATGGGGT AAGGAGGTGCTTTTTTAAAATCGTTCATAGACTTCTGTAAAATGCAAGATAAATTAAAGTTATTATAACAGTGATTCTTTCAATTTGGTT TGTCCTTCAGTTTTCTTTTCTATAAATGTGCTTGGTGAAATCAGCAAGAAACCAACCATATAAAACAGTGTGTGCCGGGCTCTGACTGAG AAACTGAACAATGGCAGGCGCTTCATCTGGGCAGCCATTTTTCTTCTCTGCTTCTCTTGAGATACATAGTTAAAGTAGACACGGCCTCCC ACGCGAGTGTGGTGGGACCTTGAGACTTAGGAGGATTGCCTGTTTTCAGTGTCCAGGGAATGACTCCATAGATTTGAATTCTTTTCCGTA TGTGGGGATGGTTGCTACTACCTCACCGCCAAGTCCTCCCCCAGCTGTTACCACATGAGGGAATACAAGGTGCTAGGTACCCTCCTTCCT CGTTGGCCACTAAGAGGTCTTAGAAACATAGCCTGTAAATGTGTCTTGTAACTGGCACACTAAAAAAGATCCTAGTTGAGCATCTCTCTT GGTGAGGAAGCGATGTGTGTGCGGTTCAGGAAACTCCTCCAAGAGGAGGAGGAGTCCAAACAGGGATGCCAGAGGAAGCTTTCCGTTTTC CTAGCCAACTTGTGTTCTGGGTTTGAAAAAGACCCACCACAAATGCTTTTTCTATTTTCTGATTTAAAAGTCGCTTTTGAATATGACCAT GAGAAACCAAGAAATGCTGCTTGTGTGGTGCTCTGCTTCCTGAGGATTTGGCTGGAAGGGGATTCTCCGCTGGCACATGGGAGAAGGCCA TCTTCTGTGTCGGTGCTGTGATCTGCCTTGTTCTCACTTGCTGAGGATAAGGGCATACACGCTGCTCCTCGCTTTCTTGTTGCCCGACTT CGTACTAAGCAGCTCAGGAGCAGTCACTCAGACCCAAATGTCTTGACTGTGTTGTTTTTAATCACTGTGACCCTTAAAGTACAGGCCAAG TGTTGTCAAACACCTTGGCTAAAACAGTGGAGGGTGATGGGTAAAGCAGTAGAGGGCCCTCAACCCACACACTGGCTGAAACTGCCACCA ACTGCCACGATGAACCCAACTGCTGTTTATGCCCCCATTTTCCTTTTTTTGTATCTACACCCACACGATTCCCAATGTTGGATATTTCTA >7292_7292_1_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000306058_EIF2S2_chr20_32693351_ENST00000374980_length(amino acids)=407AA_BP=79 MGVVNFVFRASEDLQVLENYSDAPMTPKQILQVIEAEGLKEMSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKMIFDPTMSKKK KKKKKPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEEDTRKKDASDDLDDLNFFNQKKKKKKTKKIFDIDEAEEGVKDLKIESD VQEPTEPEDDLDIMLGNKKKKKKNVKFPDEDEILEKDEALEDEDNKKDDGISFSNQTGPAWAGSERDYTYEELLNRVFNIMREKNPDMVA GEKRKFVMKPPQVVRVGTKKTSFVNFTDICKLLHRQPKHLLAFLLAELGTSGSIDGNNQLVIKGRFQQKQIENVLRRYIKEYVTCHTCRS -------------------------------------------------------------- >7292_7292_2_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000375687_EIF2S2_chr20_32693351_ENST00000374980_length(transcript)=3095nt_BP=676nt CGGCAGACACGCACGCACCCGGGCGCCGAAGGGAAAGCCGCGTCTCGCCCTCCCGCCCCGCCGTCGGTCCTGTCTCAGTCCCTCAGCAGA GCGGGAAAGCGGAGGCCGGAGCCGTGACCTCTGACCCCGTGGTTATGCGGAGCCGCCGCATTCCTTAGCGATCGCGGGGCAGCCGCCGCT GCCGCCGTGGGCGACTGACGCAGCGCGGGCGCGTGGAGCCGCCGCCGCCCCTCCCCCACCGCCGCTCTCGCGCCAGCCGGTCCCCGCGTG CCCGCCCCTTCTCCCCGGCCGCACCCGAGACCTCGCGCGCCGCCGCTGCCACGCGCCCCCCCCACCGCCGCCGCCGCCCCAGCCCCGCGC CACCGCCCCAGCCCGCCCAGCCCGGAGGTCCCGCGTGGAGCTGCCGCCGCCGCCGGGGAGAAGGATGAAGGACAAACAGAAGAAGAAGAA GGAGCGCACGTGGGCCGAGGCCGCGCGCCTGGTATTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGATTCTGCAGGTCATAGA GGCAGAAGGACTAAAGGAAATGAGAAGTGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTACATTCCAATTCAAGAGGAGGAGAGGG GTTGTTTTATAAACTGCCTGGCCGAATCAGCCTTTTCACGCTCAAGATGATTTTTGATCCTACTATGAGCAAGAAGAAAAAGAAGAAGAA GAAGCCTTTTATGTTAGATGAGGAAGGGGATACCCAAACAGAGGAAACCCAGCCTTCAGAAACAAAAGAAGTGGAGCCAGAGCCAACTGA GGACAAGGATTTGGAAGCTGATGAAGAGGACACTAGGAAAAAAGATGCTTCTGATGATCTAGATGACTTGAACTTCTTTAATCAAAAGAA AAAGAAGAAAAAAACTAAAAAGATATTTGATATTGATGAAGCTGAAGAAGGTGTAAAGGATCTTAAGATTGAAAGTGATGTTCAAGAACC AACTGAACCAGAGGATGACCTTGACATTATGCTTGGCAATAAAAAGAAGAAAAAGAAGAATGTTAAGTTCCCAGATGAGGATGAAATACT AGAGAAAGATGAAGCTCTAGAAGATGAAGACAACAAAAAAGATGATGGTATCTCATTCAGTAATCAGACAGGCCCTGCTTGGGCAGGCTC AGAAAGAGACTACACATACGAGGAGCTGCTGAATCGAGTGTTCAACATCATGAGGGAAAAGAATCCAGATATGGTTGCTGGGGAGAAAAG GAAATTTGTCATGAAACCTCCACAAGTCGTCCGAGTAGGAACCAAGAAAACTTCTTTTGTCAACTTTACAGATATCTGTAAACTATTACA TCGTCAGCCCAAACATCTCCTTGCATTTTTGTTGGCTGAATTGGGTACAAGTGGTTCTATAGATGGTAATAACCAACTTGTAATCAAAGG AAGATTCCAACAGAAACAGATAGAAAATGTCTTGAGAAGATATATCAAGGAATATGTCACTTGTCACACATGCCGATCACCGGACACAAT CCTGCAGAAGGACACACGACTCTATTTCCTACAGTGCGAAACTTGTCATTCTAGATGTTCTGTTGCCAGTATCAAAACCGGCTTCCAGGC TGTCACGGGCAAGCGAGCACAGCTCCGTGCCAAAGCTAACTAATTTGCTAATCACTGATTTTGCAAAGCTTGTTGTGGAGATGTGGCTGG ACAGGTTTGCCATCAGAGTGGATATACCGTTGTATTAAAAACAAGATAAAAAAGCTGCCAAGATTTTTGGCGAGTGGTTGGTCTGAAGTC CTTGCAAGACGCTGATGCTCAAGCTGTTGACATACTCATTGCCTACTTTAACACCTGTCAGAGAAACGTGATATGGGGTAAGGAGGTGCT TTTTTAAAATCGTTCATAGACTTCTGTAAAATGCAAGATAAATTAAAGTTATTATAACAGTGATTCTTTCAATTTGGTTTGTCCTTCAGT TTTCTTTTCTATAAATGTGCTTGGTGAAATCAGCAAGAAACCAACCATATAAAACAGTGTGTGCCGGGCTCTGACTGAGAAACTGAACAA TGGCAGGCGCTTCATCTGGGCAGCCATTTTTCTTCTCTGCTTCTCTTGAGATACATAGTTAAAGTAGACACGGCCTCCCACGCGAGTGTG GTGGGACCTTGAGACTTAGGAGGATTGCCTGTTTTCAGTGTCCAGGGAATGACTCCATAGATTTGAATTCTTTTCCGTATGTGGGGATGG TTGCTACTACCTCACCGCCAAGTCCTCCCCCAGCTGTTACCACATGAGGGAATACAAGGTGCTAGGTACCCTCCTTCCTCGTTGGCCACT AAGAGGTCTTAGAAACATAGCCTGTAAATGTGTCTTGTAACTGGCACACTAAAAAAGATCCTAGTTGAGCATCTCTCTTGGTGAGGAAGC GATGTGTGTGCGGTTCAGGAAACTCCTCCAAGAGGAGGAGGAGTCCAAACAGGGATGCCAGAGGAAGCTTTCCGTTTTCCTAGCCAACTT GTGTTCTGGGTTTGAAAAAGACCCACCACAAATGCTTTTTCTATTTTCTGATTTAAAAGTCGCTTTTGAATATGACCATGAGAAACCAAG AAATGCTGCTTGTGTGGTGCTCTGCTTCCTGAGGATTTGGCTGGAAGGGGATTCTCCGCTGGCACATGGGAGAAGGCCATCTTCTGTGTC GGTGCTGTGATCTGCCTTGTTCTCACTTGCTGAGGATAAGGGCATACACGCTGCTCCTCGCTTTCTTGTTGCCCGACTTCGTACTAAGCA GCTCAGGAGCAGTCACTCAGACCCAAATGTCTTGACTGTGTTGTTTTTAATCACTGTGACCCTTAAAGTACAGGCCAAGTGTTGTCAAAC ACCTTGGCTAAAACAGTGGAGGGTGATGGGTAAAGCAGTAGAGGGCCCTCAACCCACACACTGGCTGAAACTGCCACCAACTGCCACGAT GAACCCAACTGCTGTTTATGCCCCCATTTTCCTTTTTTTGTATCTACACCCACACGATTCCCAATGTTGGATATTTCTACATGAATAAAG >7292_7292_2_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000375687_EIF2S2_chr20_32693351_ENST00000374980_length(amino acids)=494AA_BP=166 MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKMIFDPTMSKKKKKK KKPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEEDTRKKDASDDLDDLNFFNQKKKKKKTKKIFDIDEAEEGVKDLKIESDVQE PTEPEDDLDIMLGNKKKKKKNVKFPDEDEILEKDEALEDEDNKKDDGISFSNQTGPAWAGSERDYTYEELLNRVFNIMREKNPDMVAGEK RKFVMKPPQVVRVGTKKTSFVNFTDICKLLHRQPKHLLAFLLAELGTSGSIDGNNQLVIKGRFQQKQIENVLRRYIKEYVTCHTCRSPDT -------------------------------------------------------------- >7292_7292_3_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000375689_EIF2S2_chr20_32693351_ENST00000374980_length(transcript)=2841nt_BP=422nt CAGACTGGGCTGTTTGCCTTCAGAAGCTGGACTGGAAATTGGTATTTTGAGGAGAACTGAATCCACTTTGCAAAGAATGTATGTTGGACA AAGACAAAGTATCTCTGTTGGGAGACGTTGTTCACTGAGGATTTAGCAAGGGAGAGCGTAACTTGAGTGTTTGAAGCCGTCTCGTTCAAC CGATGGGGGTTGTGAATTTTGTGTTCAGAGCGTCAGAGGACTTGCAGGTATTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGA TTCTGCAGGTCATAGAGGCAGAAGGACTAAAGGAAATGAGAAGTGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTACATTCCAATT CAAGAGGAGGAGAGGGGTTGTTTTATAAACTGCCTGGCCGAATCAGCCTTTTCACGCTCAAGATGATTTTTGATCCTACTATGAGCAAGA AGAAAAAGAAGAAGAAGAAGCCTTTTATGTTAGATGAGGAAGGGGATACCCAAACAGAGGAAACCCAGCCTTCAGAAACAAAAGAAGTGG AGCCAGAGCCAACTGAGGACAAGGATTTGGAAGCTGATGAAGAGGACACTAGGAAAAAAGATGCTTCTGATGATCTAGATGACTTGAACT TCTTTAATCAAAAGAAAAAGAAGAAAAAAACTAAAAAGATATTTGATATTGATGAAGCTGAAGAAGGTGTAAAGGATCTTAAGATTGAAA GTGATGTTCAAGAACCAACTGAACCAGAGGATGACCTTGACATTATGCTTGGCAATAAAAAGAAGAAAAAGAAGAATGTTAAGTTCCCAG ATGAGGATGAAATACTAGAGAAAGATGAAGCTCTAGAAGATGAAGACAACAAAAAAGATGATGGTATCTCATTCAGTAATCAGACAGGCC CTGCTTGGGCAGGCTCAGAAAGAGACTACACATACGAGGAGCTGCTGAATCGAGTGTTCAACATCATGAGGGAAAAGAATCCAGATATGG TTGCTGGGGAGAAAAGGAAATTTGTCATGAAACCTCCACAAGTCGTCCGAGTAGGAACCAAGAAAACTTCTTTTGTCAACTTTACAGATA TCTGTAAACTATTACATCGTCAGCCCAAACATCTCCTTGCATTTTTGTTGGCTGAATTGGGTACAAGTGGTTCTATAGATGGTAATAACC AACTTGTAATCAAAGGAAGATTCCAACAGAAACAGATAGAAAATGTCTTGAGAAGATATATCAAGGAATATGTCACTTGTCACACATGCC GATCACCGGACACAATCCTGCAGAAGGACACACGACTCTATTTCCTACAGTGCGAAACTTGTCATTCTAGATGTTCTGTTGCCAGTATCA AAACCGGCTTCCAGGCTGTCACGGGCAAGCGAGCACAGCTCCGTGCCAAAGCTAACTAATTTGCTAATCACTGATTTTGCAAAGCTTGTT GTGGAGATGTGGCTGGACAGGTTTGCCATCAGAGTGGATATACCGTTGTATTAAAAACAAGATAAAAAAGCTGCCAAGATTTTTGGCGAG TGGTTGGTCTGAAGTCCTTGCAAGACGCTGATGCTCAAGCTGTTGACATACTCATTGCCTACTTTAACACCTGTCAGAGAAACGTGATAT GGGGTAAGGAGGTGCTTTTTTAAAATCGTTCATAGACTTCTGTAAAATGCAAGATAAATTAAAGTTATTATAACAGTGATTCTTTCAATT TGGTTTGTCCTTCAGTTTTCTTTTCTATAAATGTGCTTGGTGAAATCAGCAAGAAACCAACCATATAAAACAGTGTGTGCCGGGCTCTGA CTGAGAAACTGAACAATGGCAGGCGCTTCATCTGGGCAGCCATTTTTCTTCTCTGCTTCTCTTGAGATACATAGTTAAAGTAGACACGGC CTCCCACGCGAGTGTGGTGGGACCTTGAGACTTAGGAGGATTGCCTGTTTTCAGTGTCCAGGGAATGACTCCATAGATTTGAATTCTTTT CCGTATGTGGGGATGGTTGCTACTACCTCACCGCCAAGTCCTCCCCCAGCTGTTACCACATGAGGGAATACAAGGTGCTAGGTACCCTCC TTCCTCGTTGGCCACTAAGAGGTCTTAGAAACATAGCCTGTAAATGTGTCTTGTAACTGGCACACTAAAAAAGATCCTAGTTGAGCATCT CTCTTGGTGAGGAAGCGATGTGTGTGCGGTTCAGGAAACTCCTCCAAGAGGAGGAGGAGTCCAAACAGGGATGCCAGAGGAAGCTTTCCG TTTTCCTAGCCAACTTGTGTTCTGGGTTTGAAAAAGACCCACCACAAATGCTTTTTCTATTTTCTGATTTAAAAGTCGCTTTTGAATATG ACCATGAGAAACCAAGAAATGCTGCTTGTGTGGTGCTCTGCTTCCTGAGGATTTGGCTGGAAGGGGATTCTCCGCTGGCACATGGGAGAA GGCCATCTTCTGTGTCGGTGCTGTGATCTGCCTTGTTCTCACTTGCTGAGGATAAGGGCATACACGCTGCTCCTCGCTTTCTTGTTGCCC GACTTCGTACTAAGCAGCTCAGGAGCAGTCACTCAGACCCAAATGTCTTGACTGTGTTGTTTTTAATCACTGTGACCCTTAAAGTACAGG CCAAGTGTTGTCAAACACCTTGGCTAAAACAGTGGAGGGTGATGGGTAAAGCAGTAGAGGGCCCTCAACCCACACACTGGCTGAAACTGC CACCAACTGCCACGATGAACCCAACTGCTGTTTATGCCCCCATTTTCCTTTTTTTGTATCTACACCCACACGATTCCCAATGTTGGATAT >7292_7292_3_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000375689_EIF2S2_chr20_32693351_ENST00000374980_length(amino acids)=408AA_BP=80 MGVVNFVFRASEDLQVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKMIFDPTMSKK KKKKKKPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEEDTRKKDASDDLDDLNFFNQKKKKKKTKKIFDIDEAEEGVKDLKIES DVQEPTEPEDDLDIMLGNKKKKKKNVKFPDEDEILEKDEALEDEDNKKDDGISFSNQTGPAWAGSERDYTYEELLNRVFNIMREKNPDMV AGEKRKFVMKPPQVVRVGTKKTSFVNFTDICKLLHRQPKHLLAFLLAELGTSGSIDGNNQLVIKGRFQQKQIENVLRRYIKEYVTCHTCR -------------------------------------------------------------- >7292_7292_4_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000542461_EIF2S2_chr20_32693351_ENST00000374980_length(transcript)=3085nt_BP=666nt CACGCACGCACCCGGGCGCCGAAGGGAAAGCCGCGTCTCGCCCTCCCGCCCCGCCGTCGGTCCTGTCTCAGTCCCTCAGCAGAGCGGGAA AGCGGAGGCCGGAGCCGTGACCTCTGACCCCGTGGTTATGCGGAGCCGCCGCATTCCTTAGCGATCGCGGGGCAGCCGCCGCTGCCGCCG TGGGCGACTGACGCAGCGCGGGCGCGTGGAGCCGCCGCCGCCCCTCCCCCACCGCCGCTCTCGCGCCAGCCGGTCCCCGCGTGCCCGCCC CTTCTCCCCGGCCGCACCCGAGACCTCGCGCGCCGCCGCTGCCACGCGCCCCCCCCACCGCCGCCGCCGCCCCAGCCCCGCGCCACCGCC CCAGCCCGCCCAGCCCGGAGGTCCCGCGTGGAGCTGCCGCCGCCGCCGGGGAGAAGGATGAAGGACAAACAGAAGAAGAAGAAGGAGCGC ACGTGGGCCGAGGCCGCGCGCCTGGTATTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGATTCTGCAGGTCATAGAGGCAGAA GGACTAAAGGAAATGAGTGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTACATTCCAATTCAAGAGGAGGAGAGGGGTTGTTTTAT AAACTGCCTGGCCGAATCAGCCTTTTCACGCTCAAGATGATTTTTGATCCTACTATGAGCAAGAAGAAAAAGAAGAAGAAGAAGCCTTTT ATGTTAGATGAGGAAGGGGATACCCAAACAGAGGAAACCCAGCCTTCAGAAACAAAAGAAGTGGAGCCAGAGCCAACTGAGGACAAGGAT TTGGAAGCTGATGAAGAGGACACTAGGAAAAAAGATGCTTCTGATGATCTAGATGACTTGAACTTCTTTAATCAAAAGAAAAAGAAGAAA AAAACTAAAAAGATATTTGATATTGATGAAGCTGAAGAAGGTGTAAAGGATCTTAAGATTGAAAGTGATGTTCAAGAACCAACTGAACCA GAGGATGACCTTGACATTATGCTTGGCAATAAAAAGAAGAAAAAGAAGAATGTTAAGTTCCCAGATGAGGATGAAATACTAGAGAAAGAT GAAGCTCTAGAAGATGAAGACAACAAAAAAGATGATGGTATCTCATTCAGTAATCAGACAGGCCCTGCTTGGGCAGGCTCAGAAAGAGAC TACACATACGAGGAGCTGCTGAATCGAGTGTTCAACATCATGAGGGAAAAGAATCCAGATATGGTTGCTGGGGAGAAAAGGAAATTTGTC ATGAAACCTCCACAAGTCGTCCGAGTAGGAACCAAGAAAACTTCTTTTGTCAACTTTACAGATATCTGTAAACTATTACATCGTCAGCCC AAACATCTCCTTGCATTTTTGTTGGCTGAATTGGGTACAAGTGGTTCTATAGATGGTAATAACCAACTTGTAATCAAAGGAAGATTCCAA CAGAAACAGATAGAAAATGTCTTGAGAAGATATATCAAGGAATATGTCACTTGTCACACATGCCGATCACCGGACACAATCCTGCAGAAG GACACACGACTCTATTTCCTACAGTGCGAAACTTGTCATTCTAGATGTTCTGTTGCCAGTATCAAAACCGGCTTCCAGGCTGTCACGGGC AAGCGAGCACAGCTCCGTGCCAAAGCTAACTAATTTGCTAATCACTGATTTTGCAAAGCTTGTTGTGGAGATGTGGCTGGACAGGTTTGC CATCAGAGTGGATATACCGTTGTATTAAAAACAAGATAAAAAAGCTGCCAAGATTTTTGGCGAGTGGTTGGTCTGAAGTCCTTGCAAGAC GCTGATGCTCAAGCTGTTGACATACTCATTGCCTACTTTAACACCTGTCAGAGAAACGTGATATGGGGTAAGGAGGTGCTTTTTTAAAAT CGTTCATAGACTTCTGTAAAATGCAAGATAAATTAAAGTTATTATAACAGTGATTCTTTCAATTTGGTTTGTCCTTCAGTTTTCTTTTCT ATAAATGTGCTTGGTGAAATCAGCAAGAAACCAACCATATAAAACAGTGTGTGCCGGGCTCTGACTGAGAAACTGAACAATGGCAGGCGC TTCATCTGGGCAGCCATTTTTCTTCTCTGCTTCTCTTGAGATACATAGTTAAAGTAGACACGGCCTCCCACGCGAGTGTGGTGGGACCTT GAGACTTAGGAGGATTGCCTGTTTTCAGTGTCCAGGGAATGACTCCATAGATTTGAATTCTTTTCCGTATGTGGGGATGGTTGCTACTAC CTCACCGCCAAGTCCTCCCCCAGCTGTTACCACATGAGGGAATACAAGGTGCTAGGTACCCTCCTTCCTCGTTGGCCACTAAGAGGTCTT AGAAACATAGCCTGTAAATGTGTCTTGTAACTGGCACACTAAAAAAGATCCTAGTTGAGCATCTCTCTTGGTGAGGAAGCGATGTGTGTG CGGTTCAGGAAACTCCTCCAAGAGGAGGAGGAGTCCAAACAGGGATGCCAGAGGAAGCTTTCCGTTTTCCTAGCCAACTTGTGTTCTGGG TTTGAAAAAGACCCACCACAAATGCTTTTTCTATTTTCTGATTTAAAAGTCGCTTTTGAATATGACCATGAGAAACCAAGAAATGCTGCT TGTGTGGTGCTCTGCTTCCTGAGGATTTGGCTGGAAGGGGATTCTCCGCTGGCACATGGGAGAAGGCCATCTTCTGTGTCGGTGCTGTGA TCTGCCTTGTTCTCACTTGCTGAGGATAAGGGCATACACGCTGCTCCTCGCTTTCTTGTTGCCCGACTTCGTACTAAGCAGCTCAGGAGC AGTCACTCAGACCCAAATGTCTTGACTGTGTTGTTTTTAATCACTGTGACCCTTAAAGTACAGGCCAAGTGTTGTCAAACACCTTGGCTA AAACAGTGGAGGGTGATGGGTAAAGCAGTAGAGGGCCCTCAACCCACACACTGGCTGAAACTGCCACCAACTGCCACGATGAACCCAACT GCTGTTTATGCCCCCATTTTCCTTTTTTTGTATCTACACCCACACGATTCCCAATGTTGGATATTTCTACATGAATAAAGCAAGGATCAG >7292_7292_4_ASXL1-EIF2S2_ASXL1_chr20_30956926_ENST00000542461_EIF2S2_chr20_32693351_ENST00000374980_length(amino acids)=493AA_BP=165 MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKMIFDPTMSKKKKKKK KPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEEDTRKKDASDDLDDLNFFNQKKKKKKTKKIFDIDEAEEGVKDLKIESDVQEP TEPEDDLDIMLGNKKKKKKNVKFPDEDEILEKDEALEDEDNKKDDGISFSNQTGPAWAGSERDYTYEELLNRVFNIMREKNPDMVAGEKR KFVMKPPQVVRVGTKKTSFVNFTDICKLLHRQPKHLLAFLLAELGTSGSIDGNNQLVIKGRFQQKQIENVLRRYIKEYVTCHTCRSPDTI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ASXL1-EIF2S2 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | ASXL1 | chr20:30956926 | chr20:32693351 | ENST00000375687 | + | 4 | 13 | 300_658 | 84.0 | 1542.0 | NCOA1 |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ASXL1-EIF2S2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ASXL1-EIF2S2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ASXL1 | C0796232 | Bohring syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | ASXL1 | C0349639 | Juvenile Myelomonocytic Leukemia | 2 | CTD_human;GENOMICS_ENGLAND |
| Hgene | ASXL1 | C3463824 | MYELODYSPLASTIC SYNDROME | 2 | CGI;CTD_human;GENOMICS_ENGLAND |
| Hgene | ASXL1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| Hgene | ASXL1 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| Hgene | ASXL1 | C0027708 | Nephroblastoma | 1 | CTD_human |
| Hgene | ASXL1 | C1301365 | Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease | 1 | ORPHANET |
| Hgene | ASXL1 | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human |
| Hgene | ASXL1 | C2930471 | Bilateral Wilms Tumor | 1 | CTD_human |
| Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
| Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
| Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
| Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
| Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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