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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:ANXA1-ARPC3 (FusionGDB2 ID:5018) |
Fusion Gene Summary for ANXA1-ARPC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANXA1-ARPC3 | Fusion gene ID: 5018 | Hgene | Tgene | Gene symbol | ANXA1 | ARPC3 | Gene ID | 301 | 10094 |
| Gene name | annexin A1 | actin related protein 2/3 complex subunit 3 | |
| Synonyms | ANX1|LPC1 | ARC21|p21-Arc | |
| Cytomap | 9q21.13 | 12q24.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | annexin A1annexin I (lipocortin I)annexin-1calpactin IIcalpactin-2chromobindin-9epididymis secretory sperm binding proteinphospholipase A2 inhibitory protein | actin-related protein 2/3 complex subunit 3ARP2/3 protein complex subunit p21actin related protein 2/3 complex, subunit 3, 21kDaarp2/3 complex 21 kDa subunit | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | P04083 | O15145 | |
| Ensembl transtripts involved in fusion gene | ENST00000257497, ENST00000376911, ENST00000491192, | ENST00000471641, ENST00000228825, | |
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 6 X 4 X 4=96 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/96*10)=-0.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANXA1 [Title/Abstract] AND ARPC3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ANXA1(75775232)-ARPC3(110878152), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ANXA1-ARPC3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. ANXA1-ARPC3 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 | ANXA1 | GO:0002548 | monocyte chemotaxis | 15187149 |
| Hgene | ANXA1 | GO:0007187 | G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | 25664854 |
| Hgene | ANXA1 | GO:0008360 | regulation of cell shape | 15187149 |
| Hgene | ANXA1 | GO:0018149 | peptide cross-linking | 10908733 |
| Hgene | ANXA1 | GO:0030216 | keratinocyte differentiation | 10908733 |
| Hgene | ANXA1 | GO:0031340 | positive regulation of vesicle fusion | 2138016 |
| Hgene | ANXA1 | GO:0031532 | actin cytoskeleton reorganization | 15187149 |
| Hgene | ANXA1 | GO:0032743 | positive regulation of interleukin-2 production | 17008549 |
| Hgene | ANXA1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 22773844 |
| Hgene | ANXA1 | GO:0042102 | positive regulation of T cell proliferation | 17008549 |
| Hgene | ANXA1 | GO:0045627 | positive regulation of T-helper 1 cell differentiation | 17008549 |
| Hgene | ANXA1 | GO:0045629 | negative regulation of T-helper 2 cell differentiation | 17008549 |
| Hgene | ANXA1 | GO:0071385 | cellular response to glucocorticoid stimulus | 2936963 |
| Hgene | ANXA1 | GO:0071621 | granulocyte chemotaxis | 15187149 |
| Hgene | ANXA1 | GO:0090050 | positive regulation of cell migration involved in sprouting angiogenesis | 22773844 |
| Hgene | ANXA1 | GO:0090303 | positive regulation of wound healing | 25664854 |
| Tgene | ARPC3 | GO:0034314 | Arp2/3 complex-mediated actin nucleation | 11741539 |
| Fusion gene breakpoints across ANXA1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ARPC3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 |
| ChiTaRS5.0 | N/A | CF126160 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
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Fusion Gene ORF analysis for ANXA1-ARPC3 |
| 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-intron | ENST00000257497 | ENST00000471641 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| 5CDS-intron | ENST00000376911 | ENST00000471641 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| Frame-shift | ENST00000257497 | ENST00000228825 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| Frame-shift | ENST00000376911 | ENST00000228825 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| intron-3CDS | ENST00000491192 | ENST00000228825 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| intron-intron | ENST00000491192 | ENST00000471641 | ANXA1 | chr9 | 75775232 | + | ARPC3 | chr12 | 110878152 | - |
| 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 ANXA1-ARPC3 |
| 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. |
| 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 ANXA1-ARPC3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:75775232/:110878152) - 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 |
| ANXA1 | ARPC3 |
| FUNCTION: Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity (PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing (PubMed:25664854). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades (PubMed:15187149, PubMed:25664854). Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (PubMed:15187149). Contributes to the adaptive immune response by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation of activated T-cells (PubMed:17008549). Promotes the differentiation of T-cells into Th1 cells and negatively regulates differentiation into Th2 cells (PubMed:17008549). Has no effect on unstimulated T cells (PubMed:17008549). Promotes rearrangement of the actin cytoskeleton, cell polarization and cell migration (PubMed:15187149). Negatively regulates hormone exocytosis via activation of the formyl peptide receptors and reorganization of the actin cytoskeleton (PubMed:19625660). Has high affinity for Ca(2+) and can bind up to eight Ca(2+) ions (By similarity). Displays Ca(2+)-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). Plays a role in the formation of phagocytic cups and phagosomes. Plays a role in phagocytosis by mediating the Ca(2+)-dependent interaction between phagosomes and the actin cytoskeleton (By similarity). {ECO:0000250|UniProtKB:P10107, ECO:0000250|UniProtKB:P19619, ECO:0000269|PubMed:15187149, ECO:0000269|PubMed:17008549, ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:2532504, ECO:0000269|PubMed:25664854, ECO:0000269|PubMed:2936963, ECO:0000269|PubMed:8425544, ECO:0000269|PubMed:8557678}. | FUNCTION: Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). {ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:9230079}. |
| 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 ANXA1-ARPC3 |
| 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 ANXA1-ARPC3 |
| 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 ANXA1-ARPC3 |
| 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 ANXA1-ARPC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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