|
||||||
|
 | 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:AZIN1-ITPR1 (FusionGDB2 ID:8599) |
Fusion Gene Summary for AZIN1-ITPR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AZIN1-ITPR1 | Fusion gene ID: 8599 | Hgene | Tgene | Gene symbol | AZIN1 | ITPR1 | Gene ID | 51582 | 3708 |
| Gene name | antizyme inhibitor 1 | inositol 1,4,5-trisphosphate receptor type 1 | |
| Synonyms | AZI|AZI1|AZIA1|OAZI|OAZIN|ODC1L | ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 | |
| Cytomap | 8q22.3 | 3p26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | antizyme inhibitor 1ornithine decarboxylase antizyme inhibitor | inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | O14977 | Q14643 | |
| Ensembl transtripts involved in fusion gene | ENST00000337198, ENST00000347770, ENST00000522311, | ENST00000302640, ENST00000354582, ENST00000357086, ENST00000423119, ENST00000443694, ENST00000456211, ENST00000544951, ENST00000463980, | |
| Fusion gene scores | * DoF score | 18 X 12 X 9=1944 | 9 X 13 X 8=936 |
| # samples | 19 | 16 | |
| ** MAII score | log2(19/1944*10)=-3.35495689527483 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/936*10)=-2.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AZIN1 [Title/Abstract] AND ITPR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AZIN1(103870241)-ITPR1(4669447), # samples:3 | ||
| 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 | AZIN1 | GO:0042177 | negative regulation of protein catabolic process | 17900240 |
| Hgene | AZIN1 | GO:1902269 | positive regulation of polyamine transmembrane transport | 18508777 |
| Tgene | ITPR1 | GO:0001666 | response to hypoxia | 19120137 |
| Tgene | ITPR1 | GO:0050849 | negative regulation of calcium-mediated signaling | 16793548 |
| Fusion gene breakpoints across AZIN1 (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 ITPR1 (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 |
| ChimerDB4 | LGG | TCGA-DU-A7TA-01A | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| ChimerDB4 | LGG | TCGA-DU-A7TA | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
Top |
Fusion Gene ORF analysis for AZIN1-ITPR1 |
| 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 |
| 5UTR-3CDS | ENST00000337198 | ENST00000302640 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000354582 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000357086 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000423119 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000443694 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000456211 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000337198 | ENST00000544951 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000302640 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000354582 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000357086 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000423119 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000443694 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000456211 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000347770 | ENST00000544951 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000302640 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000354582 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000357086 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000423119 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000443694 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000456211 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-3CDS | ENST00000522311 | ENST00000544951 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-intron | ENST00000337198 | ENST00000463980 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-intron | ENST00000347770 | ENST00000463980 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 5UTR-intron | ENST00000522311 | ENST00000463980 | AZIN1 | chr8 | 103870241 | - | ITPR1 | chr3 | 4669447 | + |
| 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 |
Top |
Fusion Genomic Features for AZIN1-ITPR1 |
| 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) |
| AZIN1 | chr8 | 103870240 | - | ITPR1 | chr3 | 4669446 | + | 3.05E-10 | 1 |
| AZIN1 | chr8 | 103870240 | - | ITPR1 | chr3 | 4669446 | + | 3.05E-10 | 1 |
| AZIN1 | chr8 | 103870240 | - | ITPR1 | chr3 | 4669446 | + | 3.05E-10 | 1 |
| AZIN1 | chr8 | 103870240 | - | ITPR1 | chr3 | 4669446 | + | 3.05E-10 | 1 |
| 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. |
 |
Top |
Fusion Protein Features for AZIN1-ITPR1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:103870241/:4669447) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AZIN1 | ITPR1 |
| FUNCTION: Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding (PubMed:17900240, PubMed:26305948). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). {ECO:0000269|PubMed:17900240, ECO:0000269|PubMed:26305948}. | FUNCTION: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250|UniProtKB:P11881, ECO:0000269|PubMed:27108797}. |
| 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 |
Top |
Fusion Gene Sequence for AZIN1-ITPR1 |
| 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. |
Top |
Fusion Gene PPI Analysis for AZIN1-ITPR1 |
| 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 |
Top |
Related Drugs for AZIN1-ITPR1 |
| 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 |
Top |
Related Diseases for AZIN1-ITPR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies