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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:ITPR1-ITPR2 (FusionGDB2 ID:HG3708TG3709) |
Fusion Gene Summary for ITPR1-ITPR2 |
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Fusion gene information | Fusion gene name: ITPR1-ITPR2 | Fusion gene ID: hg3708tg3709 | Hgene | Tgene | Gene symbol | ITPR1 | ITPR2 | Gene ID | 3708 | 3709 |
Gene name | inositol 1,4,5-trisphosphate receptor type 1 | inositol 1,4,5-trisphosphate receptor type 2 | |
Synonyms | ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 | ANHD|CFAP48|INSP3R2|IP3R2 | |
Cytomap | ('ITPR1')('ITPR2') 3p26.1 | 12p11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | 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 | inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | . | Q14571 | |
Ensembl transtripts involved in fusion gene | ENST00000463980, ENST00000302640, ENST00000354582, ENST00000357086, ENST00000423119, ENST00000443694, ENST00000456211, ENST00000544951, | ||
Fusion gene scores | * DoF score | 14 X 15 X 8=1680 | 27 X 21 X 12=6804 |
# samples | 16 | 27 | |
** MAII score | log2(16/1680*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/6804*10)=-4.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ITPR1 [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ITPR1(4878619)-ITPR2(26492416), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ITPR1-ITPR2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ITPR1-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ITPR1-ITPR2 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ITPR1 | GO:0001666 | response to hypoxia | 19120137 |
Hgene | ITPR1 | GO:0050849 | negative regulation of calcium-mediated signaling | 16793548 |
Tgene | ITPR2 | GO:0001666 | response to hypoxia | 19120137 |
![]() * 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 | Non-Cancer | 43N | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
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Fusion Gene ORF analysis for ITPR1-ITPR2 |
![]() * 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 |
3UTR-3CDS | ENST00000463980 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
3UTR-intron | ENST00000463980 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
3UTR-intron | ENST00000463980 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000302640 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000302640 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000354582 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000354582 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000357086 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000357086 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000423119 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000423119 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000443694 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000443694 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000456211 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000456211 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000544951 | ENST00000242737 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
5CDS-intron | ENST00000544951 | ENST00000545902 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000302640 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000354582 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000357086 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000423119 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000443694 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000456211 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
Frame-shift | ENST00000544951 | ENST00000381340 | ITPR1 | chr3 | 4878619 | + | ITPR2 | chr12 | 26492416 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ITPR1-ITPR2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ITPR1-ITPR2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:4878619/:26492416) - 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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Hgene | Tgene |
. | ITPR2 |
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: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}. |
![]() * 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 ITPR1-ITPR2 |
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Fusion Gene PPI Analysis for ITPR1-ITPR2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ITPR1-ITPR2 |
![]() (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 ITPR1-ITPR2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ITPR1 | C1847725 | SPINOCEREBELLAR ATAXIA 15 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ITPR1 | C0431401 | Gillespie syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ITPR1 | C1861732 | SPINOCEREBELLAR ATAXIA 29 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ITPR1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
Hgene | ITPR1 | C0003132 | Anoxic Encephalopathy | 1 | CTD_human |
Hgene | ITPR1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | ITPR1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | ITPR1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | ITPR1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | ITPR1 | C0995195 | Anoxia of brain | 1 | CTD_human |
Hgene | ITPR1 | C1140716 | Hypoxic Brain Damage | 1 | CTD_human |
Hgene | ITPR1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | ITPR1 | C1527348 | Brain Hypoxia | 1 | CTD_human |
Hgene | ITPR1 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Hgene | ITPR1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | ITPR1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | ITPR1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | C0003132 | Anoxic Encephalopathy | 1 | CTD_human | |
Tgene | C0018800 | Cardiomegaly | 1 | CTD_human | |
Tgene | C0995195 | Anoxia of brain | 1 | CTD_human | |
Tgene | C1140716 | Hypoxic Brain Damage | 1 | CTD_human | |
Tgene | C1383860 | Cardiac Hypertrophy | 1 | CTD_human | |
Tgene | C1527348 | Brain Hypoxia | 1 | CTD_human | |
Tgene | C1862871 | ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS | 1 | CTD_human;ORPHANET;UNIPROT |