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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:AXIN1-ITCH (FusionGDB2 ID:HG8312TG83737) |
Fusion Gene Summary for AXIN1-ITCH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AXIN1-ITCH | Fusion gene ID: hg8312tg83737 | Hgene | Tgene | Gene symbol | AXIN1 | ITCH | Gene ID | 8312 | 83737 |
| Gene name | axin 1 | itchy E3 ubiquitin protein ligase | |
| Synonyms | AXIN|PPP1R49 | ADMFD|AIF4|AIP4|NAPP1 | |
| Cytomap | ('AXIN1')('ITCH') 16p13.3 | 20q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | axin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49 | E3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homolog | |
| Modification date | 20200322 | 20200329 | |
| UniProtAcc | . | Q96J02 | |
| Ensembl transtripts involved in fusion gene | ENST00000262320, ENST00000354866, ENST00000481769, | ||
| Fusion gene scores | * DoF score | 16 X 10 X 9=1440 | 14 X 15 X 7=1470 |
| # samples | 23 | 16 | |
| ** MAII score | log2(23/1440*10)=-2.6463630453853 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1470*10)=-3.19967234483636 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AXIN1 [Title/Abstract] AND ITCH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AXIN1(396148)-ITCH(32957200), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | AXIN1 | GO:0001934 | positive regulation of protein phosphorylation | 9601641 |
| Hgene | AXIN1 | GO:0032147 | activation of protein kinase activity | 9601641 |
| Hgene | AXIN1 | GO:0034622 | cellular protein-containing complex assembly | 16601693 |
| Hgene | AXIN1 | GO:0045732 | positive regulation of protein catabolic process | 9601641 |
| Hgene | AXIN1 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 10644691 |
| Tgene | ITCH | GO:0006511 | ubiquitin-dependent protein catabolic process | 15678106 |
| Tgene | ITCH | GO:0016567 | protein ubiquitination | 17592138|25631046 |
| Tgene | ITCH | GO:0035519 | protein K29-linked ubiquitination | 17028573|18628966 |
| Tgene | ITCH | GO:0070534 | protein K63-linked ubiquitination | 18718448|19592251 |
| Tgene | ITCH | GO:0070936 | protein K48-linked ubiquitination | 19881509 |
| 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 | BRCA | TCGA-D8-A140-01A | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
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Fusion Gene ORF analysis for AXIN1-ITCH |
| 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 | ENST00000262320 | ENST00000262650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-5UTR | ENST00000262320 | ENST00000374864 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-5UTR | ENST00000262320 | ENST00000535650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-5UTR | ENST00000354866 | ENST00000262650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-5UTR | ENST00000354866 | ENST00000374864 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-5UTR | ENST00000354866 | ENST00000535650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-intron | ENST00000262320 | ENST00000483727 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 5CDS-intron | ENST00000354866 | ENST00000483727 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| intron-5UTR | ENST00000481769 | ENST00000262650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| intron-5UTR | ENST00000481769 | ENST00000374864 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| intron-5UTR | ENST00000481769 | ENST00000535650 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| intron-intron | ENST00000481769 | ENST00000483727 | AXIN1 | chr16 | 396148 | - | ITCH | chr20 | 32957200 | + |
| 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 AXIN1-ITCH |
| 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) |
| AXIN1 | chr16 | 396147 | - | ITCH | chr20 | 32957199 | + | 3.00E-06 | 0.999997 |
| AXIN1 | chr16 | 396147 | - | ITCH | chr20 | 32957199 | + | 3.00E-06 | 0.999997 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for AXIN1-ITCH |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:396148/:32957200) - 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 |
| . | ITCH |
| 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: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP (PubMed:20068034). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Inhibits the replication of influenza A virus (IAV) via ubiquitination of IAV matrix protein 1 (M1) through 'Lys-48'-linked conjugation resulting in M1 proteasomal degradation (PubMed:30328013). {ECO:0000250|UniProtKB:Q8C863, ECO:0000269|PubMed:14602072, ECO:0000269|PubMed:16387660, ECO:0000269|PubMed:17028573, ECO:0000269|PubMed:18628966, ECO:0000269|PubMed:18718448, ECO:0000269|PubMed:18718449, ECO:0000269|PubMed:19116316, ECO:0000269|PubMed:19131965, ECO:0000269|PubMed:19592251, ECO:0000269|PubMed:19881509, ECO:0000269|PubMed:20068034, ECO:0000269|PubMed:20392206, ECO:0000269|PubMed:20491914, ECO:0000269|PubMed:23146885, ECO:0000269|PubMed:23886940, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:30328013}. |
| 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 AXIN1-ITCH |
| 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 AXIN1-ITCH |
| 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 AXIN1-ITCH |
| 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 AXIN1-ITCH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AXIN1 | C2239176 | Liver carcinoma | 2 | CGI;CTD_human;UNIPROT |
| Hgene | AXIN1 | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET |
| Tgene | C3150649 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C4755273 | Syndromic multisystem autoimmune disease due to ITCH deficiency | 1 | GENOMICS_ENGLAND |
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