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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:HIPK2-MYCBP2 (FusionGDB2 ID:HG28996TG23077) |
Fusion Gene Summary for HIPK2-MYCBP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIPK2-MYCBP2 | Fusion gene ID: hg28996tg23077 | Hgene | Tgene | Gene symbol | HIPK2 | MYCBP2 | Gene ID | 28996 | 23077 |
| Gene name | homeodomain interacting protein kinase 2 | MYC binding protein 2 | |
| Synonyms | PRO0593 | Myc-bp2|PAM|PHR1|Phr | |
| Cytomap | ('HIPK2')('MYCBP2') 7q34 | 13q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | homeodomain-interacting protein kinase 2hHIPk2 | E3 ubiquitin-protein ligase MYCBP2HighwireMYC binding protein 2, E3 ubiquitin protein ligasePAM/Highwire/RPM-1 protein 1RING-type E3 ubiquitin transferase MYCBP2myc-binding protein 2pam/highwire/rpm-1 proteinprotein associated with Myc | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9H2X6 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000342645, ENST00000406875, ENST00000428878, | ||
| Fusion gene scores | * DoF score | 17 X 13 X 12=2652 | 7 X 9 X 4=252 |
| # samples | 25 | 8 | |
| ** MAII score | log2(25/2652*10)=-3.4070807754505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HIPK2 [Title/Abstract] AND MYCBP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HIPK2(139415731)-MYCBP2(77732244), # samples:1 HIPK2(139415731)-MYCBP2(77739526), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | HIPK2-MYCBP2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. HIPK2-MYCBP2 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. HIPK2-MYCBP2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. HIPK2-MYCBP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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 | HIPK2 | GO:0006468 | protein phosphorylation | 19448668 |
| Hgene | HIPK2 | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 14647468 |
| Hgene | HIPK2 | GO:0045766 | positive regulation of angiogenesis | 19046997 |
| Hgene | HIPK2 | GO:0060395 | SMAD protein signal transduction | 12874272 |
| Tgene | MYCBP2 | GO:0016567 | protein ubiquitination | 29643511 |
| Tgene | MYCBP2 | GO:0031398 | positive regulation of protein ubiquitination | 20534529 |
| 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 | PRAD | TCGA-VN-A88L-01A | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| ChimerDB4 | PRAD | TCGA-VN-A88L-01A | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
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Fusion Gene ORF analysis for HIPK2-MYCBP2 |
| 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 |
| 5CDS-5UTR | ENST00000342645 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-5UTR | ENST00000342645 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 5CDS-5UTR | ENST00000406875 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-5UTR | ENST00000406875 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 5CDS-5UTR | ENST00000428878 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-5UTR | ENST00000428878 | ENST00000360084 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 5CDS-intron | ENST00000342645 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-intron | ENST00000342645 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 5CDS-intron | ENST00000406875 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-intron | ENST00000406875 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 5CDS-intron | ENST00000428878 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| 5CDS-intron | ENST00000428878 | ENST00000482517 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000342645 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000342645 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000342645 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000342645 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000342645 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000342645 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000406875 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000406875 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000406875 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000406875 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000406875 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000406875 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000428878 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000428878 | ENST00000357337 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000428878 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000428878 | ENST00000407578 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| Frame-shift | ENST00000428878 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77732244 | - |
| Frame-shift | ENST00000428878 | ENST00000544440 | HIPK2 | chr7 | 139415731 | - | MYCBP2 | chr13 | 77739526 | - |
| 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) |
| 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 |
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Fusion Genomic Features for HIPK2-MYCBP2 |
| 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) |
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Fusion Protein Features for HIPK2-MYCBP2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:139415731/:77732244) - 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 |
| HIPK2 | . |
| FUNCTION: Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. {ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404, ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875, ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579, ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997, ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497, ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728, ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925, ECO:0000269|PubMed:22825850}. | 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 |
| - 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 |
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Fusion Gene Sequence for HIPK2-MYCBP2 |
| 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. |
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Fusion Gene PPI Analysis for HIPK2-MYCBP2 |
| 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 |
| - 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 HIPK2-MYCBP2 |
| 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 |
| Hgene | HIPK2 | Q9H2X6 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for HIPK2-MYCBP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HIPK2 | C0027719 | Nephrosclerosis | 1 | CTD_human |
| Hgene | HIPK2 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Hgene | HIPK2 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
| Hgene | HIPK2 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
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