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Fusion Protein:AGAP1-IFIH1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: AGAP1-IFIH1 | FusionPDB ID: 2772 | FusionGDB2.0 ID: 2772 | Hgene | Tgene | Gene symbol | AGAP1 | IFIH1 | Gene ID | 116987 | 64135 |
| Gene name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | interferon induced with helicase C domain 1 | |
| Synonyms | AGAP-1|CENTG2|GGAP1|cnt-g2 | AGS7|Hlcd|IDDM19|MDA-5|MDA5|RLR-2|SGMRT1 | |
| Cytomap | 2q37.2 | 2q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2 | interferon-induced helicase C domain-containing protein 1CADM-140 autoantigenDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptideRIG-I-like receptor 2RNA helicase-DEAD box protein 116clinically amyopathic dermatomyositis autoantigen 140 kDahelicardhelicase | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q9UPQ3 | Q9BYX4 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000304032, ENST00000336665, ENST00000409457, ENST00000409538, ENST00000428334, | ENST00000263642, ENST00000421365, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 49 X 18 X 17=14994 | 7 X 7 X 4=196 |
| # samples | 48 | 7 | |
| ** MAII score | log2(48/14994*10)=-4.96520709119934 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: AGAP1 [Title/Abstract] AND IFIH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | AGAP1(236403493)-IFIH1(163167443), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | AGAP1-IFIH1 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. AGAP1-IFIH1 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. AGAP1-IFIH1 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. AGAP1-IFIH1 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. AGAP1-IFIH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AGAP1-IFIH1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 |
| Tgene | IFIH1 | GO:0016925 | protein sumoylation | 21156324 |
| Tgene | IFIH1 | GO:0032728 | positive regulation of interferon-beta production | 17600090 |
| Tgene | IFIH1 | GO:0039530 | MDA-5 signaling pathway | 17600090 |
| Tgene | IFIH1 | GO:0051607 | defense response to virus | 21478870 |
| Fusion gene breakpoints across AGAP1 (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 IFIH1 (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 | OV | TCGA-24-2298-01A | AGAP1 | chr2 | 236403493 | + | IFIH1 | chr2 | 163167443 | - |
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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) |
| ENST00000336665 | AGAP1 | chr2 | 236403493 | + | ENST00000421365 | IFIH1 | chr2 | 163167443 | - | 1530 | 743 | 762 | 202 | 186 |
| ENST00000304032 | AGAP1 | chr2 | 236403493 | + | ENST00000421365 | IFIH1 | chr2 | 163167443 | - | 1530 | 743 | 762 | 202 | 186 |
| ENST00000409457 | AGAP1 | chr2 | 236403493 | + | ENST00000421365 | IFIH1 | chr2 | 163167443 | - | 1548 | 761 | 780 | 220 | 186 |
| 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 |
| ENST00000336665 | ENST00000421365 | AGAP1 | chr2 | 236403493 | + | IFIH1 | chr2 | 163167443 | - | 0.0977256 | 0.90227437 |
| ENST00000304032 | ENST00000421365 | AGAP1 | chr2 | 236403493 | + | IFIH1 | chr2 | 163167443 | - | 0.0977256 | 0.90227437 |
| ENST00000409457 | ENST00000421365 | AGAP1 | chr2 | 236403493 | + | IFIH1 | chr2 | 163167443 | - | 0.15704599 | 0.84295404 |
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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 >2772_2772_1_AGAP1-IFIH1_AGAP1_chr2_236403493_ENST00000304032_IFIH1_chr2_163167443_ENST00000421365_length(amino acids)=186AA_BP= MFSAAAIFDGDDVLPDLVLQHRLLHALQQLVDGVDVGVDRLEALDLGPDGSRVGQLLLVVHGAGAAPGAARPPPPPPRAPGPAGRRARGA AAPGEPGPPAAGGGGARRKARAEQARGWPAGSVHGRDARPASERAPASRVSGPPGGSAPPWSAPRRVRPAPKEACSGDFLSRSRLPALGA -------------------------------------------------------------- >2772_2772_2_AGAP1-IFIH1_AGAP1_chr2_236403493_ENST00000336665_IFIH1_chr2_163167443_ENST00000421365_length(amino acids)=186AA_BP= MFSAAAIFDGDDVLPDLVLQHRLLHALQQLVDGVDVGVDRLEALDLGPDGSRVGQLLLVVHGAGAAPGAARPPPPPPRAPGPAGRRARGA AAPGEPGPPAAGGGGARRKARAEQARGWPAGSVHGRDARPASERAPASRVSGPPGGSAPPWSAPRRVRPAPKEACSGDFLSRSRLPALGA -------------------------------------------------------------- >2772_2772_3_AGAP1-IFIH1_AGAP1_chr2_236403493_ENST00000409457_IFIH1_chr2_163167443_ENST00000421365_length(amino acids)=186AA_BP= MFSAAAIFDGDDVLPDLVLQHRLLHALQQLVDGVDVGVDRLEALDLGPDGSRVGQLLLVVHGAGAAPGAARPPPPPPRAPGPAGRRARGA AAPGEPGPPAAGGGGARRKARAEQARGWPAGSVHGRDARPASERAPASRVSGPPGGSAPPWSAPRRVRPAPKEACSGDFLSRSRLPALGA -------------------------------------------------------------- |
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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/chr2:236403493/chr2:163167443) - 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 |
| AGAP1 | IFIH1 |
| FUNCTION: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. {ECO:0000269|PubMed:12640130}. | FUNCTION: Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Detects coronavirus SARS-CoV-2 (PubMed:24686847). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines. {ECO:0000269|PubMed:14645903, ECO:0000269|PubMed:19211564, ECO:0000269|PubMed:19656871, ECO:0000269|PubMed:21217758, ECO:0000269|PubMed:21742966, ECO:0000269|PubMed:24686847, ECO:0000269|PubMed:29117565}. |
| 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 | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000263642 | 0 | 16 | 316_509 | 151.0 | 1026.0 | Domain | Helicase ATP-binding | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000263642 | 0 | 16 | 700_882 | 151.0 | 1026.0 | Domain | Helicase C-terminal | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000263642 | 0 | 16 | 893_1020 | 151.0 | 1026.0 | Domain | RLR CTR | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000421365 | 0 | 2 | 316_509 | 151.0 | 222.0 | Domain | Helicase ATP-binding | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000421365 | 0 | 2 | 700_882 | 151.0 | 222.0 | Domain | Helicase C-terminal | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000421365 | 0 | 2 | 893_1020 | 151.0 | 222.0 | Domain | RLR CTR |
| - 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 | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 346_588 | 54.333333333333336 | 858.0 | Domain | PH |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 609_729 | 54.333333333333336 | 858.0 | Domain | Arf-GAP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 346_588 | 54.333333333333336 | 805.0 | Domain | PH |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 609_729 | 54.333333333333336 | 805.0 | Domain | Arf-GAP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 346_588 | 54.333333333333336 | 406.0 | Domain | PH |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 609_729 | 54.333333333333336 | 406.0 | Domain | Arf-GAP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 122_126 | 54.333333333333336 | 858.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 178_181 | 54.333333333333336 | 858.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 78_85 | 54.333333333333336 | 858.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 122_126 | 54.333333333333336 | 805.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 178_181 | 54.333333333333336 | 805.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 78_85 | 54.333333333333336 | 805.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 122_126 | 54.333333333333336 | 406.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 178_181 | 54.333333333333336 | 406.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 78_85 | 54.333333333333336 | 406.0 | Nucleotide binding | GTP |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 66_276 | 54.333333333333336 | 858.0 | Region | Note=Small GTPase-like |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 66_276 | 54.333333333333336 | 805.0 | Region | Note=Small GTPase-like |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 66_276 | 54.333333333333336 | 406.0 | Region | Note=Small GTPase-like |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 768_797 | 54.333333333333336 | 858.0 | Repeat | Note=ANK 1 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 801_830 | 54.333333333333336 | 858.0 | Repeat | Note=ANK 2 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 768_797 | 54.333333333333336 | 805.0 | Repeat | Note=ANK 1 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 801_830 | 54.333333333333336 | 805.0 | Repeat | Note=ANK 2 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 768_797 | 54.333333333333336 | 406.0 | Repeat | Note=ANK 1 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 801_830 | 54.333333333333336 | 406.0 | Repeat | Note=ANK 2 |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000304032 | + | 1 | 18 | 624_647 | 54.333333333333336 | 858.0 | Zinc finger | C4-type |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000336665 | + | 1 | 17 | 624_647 | 54.333333333333336 | 805.0 | Zinc finger | C4-type |
| Hgene | AGAP1 | chr2:236403493 | chr2:163167443 | ENST00000409457 | + | 1 | 10 | 624_647 | 54.333333333333336 | 406.0 | Zinc finger | C4-type |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000263642 | 0 | 16 | 110_190 | 151.0 | 1026.0 | Domain | Note=CARD 2 | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000263642 | 0 | 16 | 7_97 | 151.0 | 1026.0 | Domain | Note=CARD 1 | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000421365 | 0 | 2 | 110_190 | 151.0 | 222.0 | Domain | Note=CARD 2 | |
| Tgene | IFIH1 | chr2:236403493 | chr2:163167443 | ENST00000421365 | 0 | 2 | 7_97 | 151.0 | 222.0 | Domain | Note=CARD 1 |
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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 |
| AGAP1 | |
| IFIH1 |
| - 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 |
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Related Drugs to AGAP1-IFIH1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to AGAP1-IFIH1 |
| 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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