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Fusion Protein:AHRR-AVIL |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: AHRR-AVIL | FusionPDB ID: 3138 | FusionGDB2.0 ID: 3138 | Hgene | Tgene | Gene symbol | AHRR | AVIL | Gene ID | 57491 | 10677 |
| Gene name | aryl-hydrocarbon receptor repressor | advillin | |
| Synonyms | AHH|AHHR|bHLHe77 | ADVIL|DOC6|NPHS21|p92 | |
| Cytomap | 5p15.33 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aryl hydrocarbon receptor repressorahR repressoraryl hydrocarbon hydroxylase regulatorclass E basic helix-loop-helix protein 77dioxin receptor repressor | advillin | |
| Modification date | 20200322 | 20200313 | |
| UniProtAcc | A9YTQ3 | O75366 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000316418, ENST00000505113, ENST00000506456, ENST00000512529, ENST00000515206, | ENST00000550083, ENST00000257861, ENST00000537081, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 6 X 4=144 | 20 X 12 X 9=2160 |
| # samples | 7 | 20 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/2160*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: AHRR [Title/Abstract] AND AVIL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | AHRR(376831)-AVIL(58193703), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | AHRR-AVIL 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. AHRR-AVIL 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. AHRR-AVIL 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. AHRR-AVIL 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 |
| Fusion gene breakpoints across AHRR (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 AVIL (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 | SARC | TCGA-DX-A2IZ-01A | AHRR | chr5 | 376831 | - | AVIL | chr12 | 58193703 | - |
| ChimerDB4 | SARC | TCGA-DX-A2IZ-01A | AHRR | chr5 | 376831 | + | AVIL | chr12 | 58193703 | - |
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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) |
| ENST00000505113 | AHRR | chr5 | 376831 | + | ENST00000537081 | AVIL | chr12 | 58193703 | - | 1147 | 407 | 44 | 646 | 200 |
| ENST00000505113 | AHRR | chr5 | 376831 | + | ENST00000257861 | AVIL | chr12 | 58193703 | - | 647 | 407 | 44 | 646 | 201 |
| ENST00000316418 | AHRR | chr5 | 376831 | + | ENST00000537081 | AVIL | chr12 | 58193703 | - | 1147 | 407 | 44 | 646 | 200 |
| ENST00000316418 | AHRR | chr5 | 376831 | + | ENST00000257861 | AVIL | chr12 | 58193703 | - | 647 | 407 | 44 | 646 | 201 |
| 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 |
| ENST00000505113 | ENST00000537081 | AHRR | chr5 | 376831 | + | AVIL | chr12 | 58193703 | - | 0.007197671 | 0.9928023 |
| ENST00000505113 | ENST00000257861 | AHRR | chr5 | 376831 | + | AVIL | chr12 | 58193703 | - | 0.011639789 | 0.98836017 |
| ENST00000316418 | ENST00000537081 | AHRR | chr5 | 376831 | + | AVIL | chr12 | 58193703 | - | 0.007197671 | 0.9928023 |
| ENST00000316418 | ENST00000257861 | AHRR | chr5 | 376831 | + | AVIL | chr12 | 58193703 | - | 0.011639789 | 0.98836017 |
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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 >3138_3138_1_AHRR-AVIL_AHRR_chr5_376831_ENST00000316418_AVIL_chr12_58193703_ENST00000257861_length(amino acids)=201AA_BP=121 MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG -------------------------------------------------------------- >3138_3138_2_AHRR-AVIL_AHRR_chr5_376831_ENST00000316418_AVIL_chr12_58193703_ENST00000537081_length(amino acids)=200AA_BP=121 MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG -------------------------------------------------------------- >3138_3138_3_AHRR-AVIL_AHRR_chr5_376831_ENST00000505113_AVIL_chr12_58193703_ENST00000257861_length(amino acids)=201AA_BP=121 MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG -------------------------------------------------------------- >3138_3138_4_AHRR-AVIL_AHRR_chr5_376831_ENST00000505113_AVIL_chr12_58193703_ENST00000537081_length(amino acids)=200AA_BP=121 MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG -------------------------------------------------------------- |
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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/chr5:376831/chr12:58193703) - 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 |
| AHRR | AVIL |
| FUNCTION: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site. {ECO:0000269|PubMed:17890447, ECO:0000269|PubMed:18172554}. | FUNCTION: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690). {ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29058690}. |
| 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 |
| Hgene | AHRR | chr5:376831 | chr12:58193703 | ENST00000316418 | + | 4 | 12 | 28_81 | 121.0 | 720.0 | Domain | bHLH |
| Hgene | AHRR | chr5:376831 | chr12:58193703 | ENST00000505113 | + | 4 | 11 | 28_81 | 121.0 | 702.0 | Domain | bHLH |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 753_819 | 740.0 | 820.0 | Domain | HP | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 753_819 | 733.0 | 813.0 | Domain | HP | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 731_819 | 733.0 | 813.0 | Region | Headpiece |
| - 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 | AHRR | chr5:376831 | chr12:58193703 | ENST00000316418 | + | 4 | 12 | 112_182 | 121.0 | 720.0 | Domain | PAS |
| Hgene | AHRR | chr5:376831 | chr12:58193703 | ENST00000505113 | + | 4 | 11 | 112_182 | 121.0 | 702.0 | Domain | PAS |
| Hgene | AHRR | chr5:376831 | chr12:58193703 | ENST00000316418 | + | 4 | 12 | 551_701 | 121.0 | 720.0 | Region | Needed for transcriptional repression |
| Hgene | AHRR | chr5:376831 | chr12:58193703 | ENST00000505113 | + | 4 | 11 | 551_701 | 121.0 | 702.0 | Region | Needed for transcriptional repression |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 109_116 | 740.0 | 820.0 | Region | Polyphosphoinositide binding | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 135_143 | 740.0 | 820.0 | Region | Polyphosphoinositide binding | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 1_731 | 740.0 | 820.0 | Region | Core | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 731_819 | 740.0 | 820.0 | Region | Headpiece | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 109_116 | 733.0 | 813.0 | Region | Polyphosphoinositide binding | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 135_143 | 733.0 | 813.0 | Region | Polyphosphoinositide binding | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 1_731 | 733.0 | 813.0 | Region | Core | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 145_185 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 2 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 24_73 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 1 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 262_306 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 3 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 403_454 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 4 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 525_565 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 5 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000257861 | 16 | 19 | 628_669 | 740.0 | 820.0 | Repeat | Note=Gelsolin-like 6 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 145_185 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 2 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 24_73 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 1 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 262_306 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 3 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 403_454 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 4 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 525_565 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 5 | |
| Tgene | AVIL | chr5:376831 | chr12:58193703 | ENST00000537081 | 16 | 19 | 628_669 | 733.0 | 813.0 | Repeat | Note=Gelsolin-like 6 |
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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 |
| AHRR | |
| AVIL |
| - 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 AHRR-AVIL |
| 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 AHRR-AVIL |
| 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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