![]() |
||||||
|
![]() | 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:APOA2-ITPR2 (FusionGDB2 ID:HG336TG3709) |
Fusion Gene Summary for APOA2-ITPR2 |
![]() |
Fusion gene information | Fusion gene name: APOA2-ITPR2 | Fusion gene ID: hg336tg3709 | Hgene | Tgene | Gene symbol | APOA2 | ITPR2 | Gene ID | 336 | 3709 |
Gene name | apolipoprotein A2 | inositol 1,4,5-trisphosphate receptor type 2 | |
Synonyms | Apo-AII|ApoA-II|apoAII | ANHD|CFAP48|INSP3R2|IP3R2 | |
Cytomap | ('APOA2')('ITPR2') 1q23.3 | 12p11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | apolipoprotein A-II | inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | P02652 | Q14571 | |
Ensembl transtripts involved in fusion gene | ENST00000367990, ENST00000463812, ENST00000468465, ENST00000470459, ENST00000464492, ENST00000491350, | ||
Fusion gene scores | * DoF score | 28 X 4 X 2=224 | 27 X 21 X 12=6804 |
# samples | 29 | 27 | |
** MAII score | log2(29/224*10)=0.37255416795733 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: APOA2 [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | APOA2(161192082)-ITPR2(26775338), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | APOA2-ITPR2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. APOA2-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. APOA2-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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | APOA2 | GO:0002740 | negative regulation of cytokine secretion involved in immune response | 12458630 |
Hgene | APOA2 | GO:0006656 | phosphatidylcholine biosynthetic process | 14967812 |
Hgene | APOA2 | GO:0009395 | phospholipid catabolic process | 14967812 |
Hgene | APOA2 | GO:0009749 | response to glucose | 14988251 |
Hgene | APOA2 | GO:0010873 | positive regulation of cholesterol esterification | 14967812 |
Hgene | APOA2 | GO:0010903 | negative regulation of very-low-density lipoprotein particle remodeling | 14967812 |
Hgene | APOA2 | GO:0018158 | protein oxidation | 12576517 |
Hgene | APOA2 | GO:0018206 | peptidyl-methionine modification | 12576517 |
Hgene | APOA2 | GO:0031647 | regulation of protein stability | 14967812 |
Hgene | APOA2 | GO:0033344 | cholesterol efflux | 11162594 |
Hgene | APOA2 | GO:0033700 | phospholipid efflux | 11162594 |
Hgene | APOA2 | GO:0034370 | triglyceride-rich lipoprotein particle remodeling | 14967812 |
Hgene | APOA2 | GO:0034374 | low-density lipoprotein particle remodeling | 8106353 |
Hgene | APOA2 | GO:0034375 | high-density lipoprotein particle remodeling | 8106353|14967812 |
Hgene | APOA2 | GO:0034380 | high-density lipoprotein particle assembly | 218942 |
Hgene | APOA2 | GO:0034384 | high-density lipoprotein particle clearance | 10764676 |
Hgene | APOA2 | GO:0042632 | cholesterol homeostasis | 14967812 |
Hgene | APOA2 | GO:0043691 | reverse cholesterol transport | 14967812 |
Hgene | APOA2 | GO:0045416 | positive regulation of interleukin-8 biosynthetic process | 11591715 |
Hgene | APOA2 | GO:0046340 | diacylglycerol catabolic process | 14967812 |
Hgene | APOA2 | GO:0050766 | positive regulation of phagocytosis | 20495215 |
Hgene | APOA2 | GO:0050821 | protein stabilization | 20495215 |
Hgene | APOA2 | GO:0050995 | negative regulation of lipid catabolic process | 14967812 |
Hgene | APOA2 | GO:0050996 | positive regulation of lipid catabolic process | 8640403 |
Hgene | APOA2 | GO:0060192 | negative regulation of lipase activity | 14967812 |
Hgene | APOA2 | GO:0060621 | negative regulation of cholesterol import | 10764676 |
Hgene | APOA2 | GO:0060695 | negative regulation of cholesterol transporter activity | 8106353 |
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 | LIHC | TCGA-2Y-A9HA-01A | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
ChimerDB4 | LIHC | TCGA-BC-A69I-01A | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
Top |
Fusion Gene ORF analysis for APOA2-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 |
5CDS-5UTR | ENST00000367990 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-5UTR | ENST00000463812 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-5UTR | ENST00000468465 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-5UTR | ENST00000470459 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-intron | ENST00000367990 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-intron | ENST00000463812 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-intron | ENST00000468465 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
5CDS-intron | ENST00000470459 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
Frame-shift | ENST00000367990 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
Frame-shift | ENST00000463812 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
Frame-shift | ENST00000468465 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
Frame-shift | ENST00000470459 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-3CDS | ENST00000464492 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-3CDS | ENST00000491350 | ENST00000381340 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-5UTR | ENST00000464492 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-5UTR | ENST00000491350 | ENST00000545902 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-intron | ENST00000464492 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
intron-intron | ENST00000491350 | ENST00000242737 | APOA2 | chr1 | 161192082 | - | ITPR2 | chr12 | 26775338 | - |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for APOA2-ITPR2 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for APOA2-ITPR2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:161192082/:26775338) - 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. |
![]() |
![]() |
Hgene | Tgene |
APOA2 | ITPR2 |
FUNCTION: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism. | 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 |
Top |
Fusion Gene Sequence for APOA2-ITPR2 |
![]() |
Top |
Fusion Gene PPI Analysis for APOA2-ITPR2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for APOA2-ITPR2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | APOA2 | P02652 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
Hgene | APOA2 | P02652 | DB09130 | Copper | Small molecule | Approved|Investigational | |
Hgene | APOA2 | P02652 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
Top |
Related Diseases for APOA2-ITPR2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | APOA2 | C0020445 | Hypercholesterolemia, Familial | 1 | CTD_human |
Hgene | APOA2 | C0745103 | Hyperlipoproteinemia Type IIa | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | APOA2 | C1704417 | Hyperlipoproteinemia Type IIb | 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 |